LOCUS       NM_001411974            3862 bp    mRNA    linear   ROD 12-MAY-2024
DEFINITION  Mus musculus RecQ protein-like 4 (Recql4), transcript variant 2,
            mRNA.
ACCESSION   NM_001411974 XM_006521548
VERSION     NM_001411974.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3862)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 3862)
  AUTHORS   Kohzaki,M., Ootsuyama,A., Umata,T. and Okazaki,R.
  TITLE     Comparison of the fertility of tumor suppressor gene-deficient
            C57BL/6 mouse strains reveals stable reproductive aging and novel
            pleiotropic gene
  JOURNAL   Sci Rep 11 (1), 12357 (2021)
   PUBMED   34117297
  REMARK    GeneRIF: Comparison of the fertility of tumor suppressor
            gene-deficient C57BL/6 mouse strains reveals stable reproductive
            aging and novel pleiotropic gene.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3862)
  AUTHORS   Castillo-Tandazo,W., Frazier,A.E., Sims,N.A., Smeets,M.F. and
            Walkley,C.R.
  TITLE     Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a
            Haploinsufficient Low-Bone-Mass Phenotype in Mice
  JOURNAL   Mol Cell Biol 41 (3), e0059020 (2021)
   PUBMED   33361189
REFERENCE   4  (bases 1 to 3862)
  AUTHORS   Kafer,G.R. and Cesare,A.J.
  TITLE     A Survey of Essential Genome Stability Genes Reveals That
            Replication Stress Mitigation Is Critical for Peri-Implantation
            Embryogenesis
  JOURNAL   Front Cell Dev Biol 8, 416 (2020)
   PUBMED   32548123
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3862)
  AUTHORS   Castillo-Tandazo,W., Smeets,M.F., Murphy,V., Liu,R., Hodson,C.,
            Heierhorst,J., Deans,A.J. and Walkley,C.R.
  TITLE     ATP-dependent helicase activity is dispensable for the
            physiological functions of Recql4
  JOURNAL   PLoS Genet 15 (7), e1008266 (2019)
   PUBMED   31276497
  REMARK    GeneRIF: Study has demonstrated the ATP-dependent helicase activity
            of Recql4 is not physiologically essential for murine embryonic
            development or adult homeostasis, cellular replication and
            physiological DNA damage repair. However, mutations that create
            truncating proteins are not tolerated.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3862)
  AUTHORS   Yang,J., Murthy,S., Winata,T., Werner,S., Abe,M., Prahalad,A.K. and
            Hock,J.M.
  TITLE     Recql4 haploinsufficiency in mice leads to defects in osteoblast
            progenitors: Implications for low bone mass phenotype
  JOURNAL   Biochem Biophys Res Commun 344 (1), 346-352 (2006)
   PUBMED   16600186
  REMARK    GeneRIF: Recql4 functions as a regulatory protein during
            osteoprogenitor proliferation, a critical cellular event during
            skeleton development.
REFERENCE   7  (bases 1 to 3862)
  AUTHORS   Mann,M.B., Hodges,C.A., Barnes,E., Vogel,H., Hassold,T.J. and
            Luo,G.
  TITLE     Defective sister-chromatid cohesion, aneuploidy and cancer
            predisposition in a mouse model of type II Rothmund-Thomson
            syndrome
  JOURNAL   Hum Mol Genet 14 (6), 813-825 (2005)
   PUBMED   15703196
REFERENCE   8  (bases 1 to 3862)
  AUTHORS   Siitonen,H.A., Kopra,O., Kaariainen,H., Haravuori,H., Winter,R.M.,
            Saamanen,A.M., Peltonen,L. and Kestila,M.
  TITLE     Molecular defect of RAPADILINO syndrome expands the phenotype
            spectrum of RECQL diseases
  JOURNAL   Hum Mol Genet 12 (21), 2837-2844 (2003)
   PUBMED   12952869
REFERENCE   9  (bases 1 to 3862)
  AUTHORS   Hoki,Y., Araki,R., Fujimori,A., Ohhata,T., Koseki,H., Fukumura,R.,
            Nakamura,M., Takahashi,H., Noda,Y., Kito,S. and Abe,M.
  TITLE     Growth retardation and skin abnormalities of the Recql4-deficient
            mouse
  JOURNAL   Hum Mol Genet 12 (18), 2293-2299 (2003)
   PUBMED   12915449
  REMARK    GeneRIF: Recql4-deficient mice show growth retardation and skin
            abnormalities.
REFERENCE   10 (bases 1 to 3862)
  AUTHORS   Ohhata,T., Araki,R., Fukumura,R., Kuroiwa,A., Matsuda,Y.,
            Tatsumi,K. and Abe,M.
  TITLE     Cloning, genomic structure and chromosomal localization of the gene
            encoding mouse DNA helicase RecQ helicase protein-like 4
  JOURNAL   Gene 261 (2), 251-258 (2000)
   PUBMED   11167012
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC156550.5.
            
            On Sep 13, 2022 this sequence version replaced XM_006521548.5.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR13422600.644380.1,
                                           SRR17253012.1155123.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-104               AC156550.5         87493-87596         c
            105-138             AC156550.5         87378-87411         c
            139-236             AC156550.5         87201-87298         c
            237-377             AC156550.5         86868-87008         c
            378-1127            AC156550.5         85902-86651         c
            1128-1254           AC156550.5         85635-85761         c
            1255-1362           AC156550.5         85427-85534         c
            1363-1464           AC156550.5         85225-85326         c
            1465-1557           AC156550.5         84352-84444         c
            1558-1694           AC156550.5         84137-84273         c
            1695-1778           AC156550.5         83783-83866         c
            1779-1967           AC156550.5         83517-83705         c
            1968-2147           AC156550.5         83259-83438         c
            2148-2289           AC156550.5         83046-83187         c
            2290-2552           AC156550.5         82694-82956         c
            2553-2805           AC156550.5         82291-82543         c
            2806-2935           AC156550.5         82087-82216         c
            2936-3105           AC156550.5         81834-82003         c
            3106-3286           AC156550.5         81576-81756         c
            3287-3440           AC156550.5         81343-81496         c
            3441-3549           AC156550.5         81054-81162         c
            3550-3862           AC156550.5         80653-80965         c
FEATURES             Location/Qualifiers
     source          1..3862
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="15"
                     /map="15 36.28 cM"
     gene            1..3862
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /note="RecQ protein-like 4"
                     /db_xref="GeneID:79456"
                     /db_xref="MGI:MGI:1931028"
     exon            1..104
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..3674
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /EC_number="5.6.2.4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ATP-dependent DNA helicase Q4; RecQ helicase protein-like
                     4; DNA helicase, RecQ-like type 4; DNA 3'-5' helicase
                     RecQ4"
                     /codon_start=1
                     /product="ATP-dependent DNA helicase Q4 isoform 2"
                     /protein_id="NP_001398903.1"
                     /db_xref="GeneID:79456"
                     /db_xref="MGI:MGI:1931028"
                     /translation="MERLATVRARLQEWERAFARLHGRRPAKGDVEAAPEETRALYRE
                     YRNLKQAVRQADDRHRVLEQSLAEAAEEAQEPSCWGPHLSRAATQNTQSMPKQSLLSS
                     VQDYGKRLKANLKNTTQTGPTQSRKLQLQKRSLSTVPAPRPPGSKTESPCPDEADDAL
                     PRVPEPRPRLGQLQQLRSSLSRRLTSLDPGWLERCHNRVSDLLEVPGACGLDLSAEES
                     QPQMSGKVNIADPDIQSEVSVQSPEAIAQQPAQVLSQSPKSINSKGRKRKWNEKGEDF
                     AQDQPSSGAGPLSEGARATVHGQDPPGEPTQVNVPQPCNSSNQARTEKAKGTTHLHAS
                     PRPASLDRGNYIRLNMKNKRFVRVGANRGRLLRKQVWKQKWKKKQAAFGGSGPRATDK
                     DTCFRCGQFGHWASQCSQPGPTLTVQEEGDRDDKQPISTLEEVAQRTGTASCHHSAGE
                     ETQPAAPELQVPHCPTPMSPLYPPGPLGQVAETPAEVFQALERLGYRAFRPGQERAIM
                     RILSGISTLLVLPTGAGKSLCYQLPALLYAQRSPCLTLVVSPLLSLMDDQVSDLPSCL
                     KAACLHSGMTKKQRESVLKKVRAAQVHVLIVSPEALVGCGARGPGSLPQAAQLPPIAF
                     ACIDEVHCLSQWSHNFRPCYLRVCKVLREHMGVRCFLGLTATATRSTARDVAQHLGIA
                     GEFELSGSANIPANLHLSVSMDRDSDQALVTLLQGDRFRTLDSVIIYCTRRKDTERVA
                     ALLRTCLSMVGDSRPRGCGPEAIAEAYHAGMSSQERRRVQQAFMRGHLRMVVATVAFG
                     MGLDRPDVRAVLHLGLPPSFESYVQAIGRAGRDGKPAHCHLFMHPQGEDLWELRRHAH
                     ADSTDFLAVKRLVQRVFPPCTCSQRPVSKSSPEEVKEHSGQQTYPVLGQACLGHERAL
                     PVQSTVQALDMTEEAIETLLCYLELHPRHWLELLPWTYAQCHLHCLGGSAQLQALAHR
                     CPPLAACQAKWPPKDTSQGRSSLEFGVVELADSMGWKLASVRQALHQLKWDPEPKKGA
                     AQGTGVLVKFSELAFHLHSRGDLTDEEKDQICDFLYNRVQAREHKALAHLHQMSKAFR
                     SVAFPSCGPCLEQSNEEHSNQVKTLVSYYFEEEEEEEETMTDTQGPKPGQTQLQDWED
                     QIRRDVRQLLSLRPEERFSGRAVARIFHGIASPCYPAQVYGLDRRFWRKYLHLDFHAL
                     MHLATEELLLRGR"
     exon            105..138
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            139..236
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            237..377
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            378..1127
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1254
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1362
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1464
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..1557
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1558..1694
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1695..1778
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1779..1967
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..2147
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2148..2289
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2290..2552
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2553..2805
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2806..2935
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2936..3105
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3106..3286
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3287..3440
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3441..3549
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3550..3862
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3839..3844
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /note="hexamer: AATAAA"
     polyA_site      3862
                     /gene="Recql4"
                     /gene_synonym="RecQ4"
                     /note="major polyA site"
ORIGIN      
        1 aaactcacgt tcgggctgcc atggagcggc tcgcgaccgt tcgcgcgcgg ctacaggagt
       61 gggaacgcgc ttttgcacgg ctgcacgggc gacggccagc gaagggggat gtggaggcgg
      121 cacctgaaga gacccgcgcg ctctaccgtg agtaccgtaa cctaaagcag gcggtgcgtc
      181 aggctgacga cagacatcgt gtcctagagc aatcacttgc cgaggcagct gaggaggcac
      241 aggagccaag ctgctggggt ccccacctga gtcgagctgc aacgcagaat acgcagtcta
      301 tgccaaaaca gagcctactg agttctgtac aagactatgg gaagaggctc aaagccaatc
      361 tgaaaaacac aacacagact ggaccaaccc agagcagaaa actccagctt cagaagagat
      421 ccttgtccac agttcctgcc ccaaggccac caggctcaaa gactgaatcc ccctgtccag
      481 acgaagctga cgatgcactt cctcgggttc ctgagccccg gccgaggctg ggccagctcc
      541 agcagctccg atcatccctc agccggaggt tgacttccct agaccctggt tggttagaga
      601 ggtgtcacaa cagagtttca gatcttctag aggttccggg tgcttgtggg cttgacctga
      661 gtgcagagga gtcacagcct cagatgtcag gcaaggtgaa catcgctgat cctgacatcc
      721 agtcagaagt atctgtacag agcccagagg ccatagccca acagccagcc caggttttgt
      781 cacagagccc caaatccatc aacagtaaag gcaggaagcg gaagtggaat gagaaggggg
      841 aggactttgc acaagaccag cccagcagcg gagcaggacc cctgtctgag ggagccaggg
      901 ctacagtaca tgggcaagac cctccaggag aacccacaca agtgaatgtc cctcagccat
      961 gcaattcctc aaaccaggcc aggacagaga aggctaaggg cacaacccac ctccatgcct
     1021 ctcctcgacc agcttcccta gacagaggga actatattcg actcaacatg aaaaacaaac
     1081 gctttgtacg agttggggcc aatcggggca ggcttctccg taagcaggta tggaagcaaa
     1141 agtggaagaa gaaacaagct gcgtttgggg gaagtggacc cagggccaca gacaaggaca
     1201 cttgtttccg gtgtgggcag tttggtcact gggcatccca gtgttcccaa ccaggcccca
     1261 ccctgaccgt ccaagaggaa ggtgacaggg atgacaaaca gcccatttcc accttggaag
     1321 aagtagcaca gaggacaggc actgcttcct gtcaccactc tgcaggtgag gaaacacagc
     1381 ctgctgcgcc agagctacag gtgcctcatt gccccacccc aatgtcaccc ctctacccac
     1441 cgggaccttt gggacaagta gcagaaaccc ctgctgaagt attccaggcc ctagagcggc
     1501 tagggtaccg agccttccgc cctgggcaag agcgtgcaat catgcggatt ctttctggca
     1561 tctctactct gttagtgttg cccacgggtg ctggaaagtc tctgtgctac cagcttcctg
     1621 cactgctcta tgcccagcga agcccctgcc tcacactcgt ggtctcgcct ctcctgtcac
     1681 tcatggatga ccaggtgtcc gatctgcctt catgtctgaa ggcagcctgc ctccactcag
     1741 gaatgaccaa gaaacaacga gagtctgtct tgaagaaggt acgggcagcc caggtgcacg
     1801 tgctgatcgt gtccccagag gccttggtgg ggtgcggggc taggggtccc ggcagcctcc
     1861 cccaggccgc tcagctgcct ccaattgcct tcgcctgcat tgatgaggtc cactgcctct
     1921 ctcagtggtc acataacttc cggccctgct acctacgtgt ttgcaaagtt ctccgggagc
     1981 atatgggggt gcgctgcttc ttgggtctca cagccacagc cacacgaagc actgctcgag
     2041 atgtggctca gcaccttggc atagctggcg agtttgagct cagcgggtca gccaacatcc
     2101 ctgccaatct gcacctctcc gtgtccatgg atagagactc agaccaggct ctggtgacat
     2161 tgctgcaagg ggaccgtttt cgtaccctgg attcagttat catttactgc actcggcgaa
     2221 aggatacaga acgggtggct gcactcctcc gcacctgcct gtccatggtg ggcgactcaa
     2281 ggccaagagg ctgtggcccc gaggctatag ctgaagccta ccatgctggc atgagcagcc
     2341 aggaacggcg acgagtacaa caggccttca tgcggggcca cctgcgcatg gtagtggcca
     2401 cggtagcatt tgggatggga ctggaccgtc cagatgttcg ggctgtgctg cacctgggac
     2461 tgcctccaag cttcgagagc tacgtgcaag ctatcggccg tgcagggcgt gatgggaagc
     2521 ctgcccattg ccacctattc atgcaccccc agggtgaaga cctttgggaa ctgcgcagac
     2581 atgcccacgc tgacagcact gacttcctag ctgtgaagag gctggtgcag cgtgtgttcc
     2641 caccctgcac ctgcagccag agacctgttt ccaagtcctc acctgaggaa gtcaaagagc
     2701 acagtggcca acaaacatac cctgtactgg gccaggcctg cctgggccat gagcgggcac
     2761 tcccagtgca gtctacagta caggctctgg acatgacaga ggaggctatt gagactctgc
     2821 tgtgctattt ggaactacac cctcggcact ggttggagct gctgccctgg acctacgccc
     2881 agtgccatct gcattgcctt ggcggcagtg cccagctgca agctctggcc cacaggtgtc
     2941 cccctttggc tgcatgccag gccaagtggc cacctaaaga cacaagtcag ggcaggagct
     3001 ccttagagtt tggtgtggtg gaactggcag actcgatggg ctggaagttg gcctctgtac
     3061 ggcaggctct ccaccagctg aagtgggacc cagagccaaa gaaaggcgca gcacagggca
     3121 ccggagtgct tgtgaagttc agcgagttgg cctttcacct gcacagtcgc ggggacctga
     3181 cagatgagga aaaggaccag atctgtgact ttctgtacaa ccgtgtgcag gctcgtgaac
     3241 acaaggccct ggcccaccta caccaaatgt ccaaggcctt tcgaagtgtg gcctttccca
     3301 gttgtggacc ctgtttagag cagtctaatg aggagcacag caatcaggtg aagaccctgg
     3361 tcagctacta ctttgaggaa gaggaggagg aggaagaaac tatgacggac actcagggtc
     3421 caaaacctgg gcagactcag cttcaggact gggaggacca aatacgccgg gatgtccgcc
     3481 agctcctgtc cctgaggcca gaagaaaggt tttcaggaag ggctgtggcc cgcatcttcc
     3541 atggcattgc gagtccatgc tacccagccc aggtgtatgg gctggaccgg cgcttctgga
     3601 ggaagtacct acacctggac tttcatgccc tgatgcacct agctacagaa gagctcctgc
     3661 tgagaggccg atgaccacct tacatgggag ggtgccacat gattgaggca tgaggcaagc
     3721 cagactgtgg ccactactcc gagggtgtca ggctcaccaa ggccatgatg tggccatcac
     3781 tgactgtcag gcaaaacctt ctggctgcag gaaggggata agaagatcca aactgcagaa
     3841 taaaaagcat tcagtaattt ta
//
