LOCUS       NM_001039684            2516 bp    mRNA    linear   ROD 01-AUG-2024
DEFINITION  Mus musculus MKS transition zone complex subunit 1 (Mks1), mRNA.
ACCESSION   NM_001039684 XM_354636 XM_902977 XM_902978 XM_910751 XM_921733
            XM_921744
VERSION     NM_001039684.3
KEYWORDS    RefSeq; RefSeq Select.
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 2516)
  AUTHORS   Martinez-Mayer,J., Brinkmeier,M.L., O'Connell,S.P., Ukagwu,A.,
            Marti,M.A., Miras,M., Forclaz,M.V., Benzrihen,M.G., Cheung,L.Y.M.,
            Camper,S.A., Ellsworth,B.S., Raetzman,L.T., Perez-Millan,M.I. and
            Davis,S.W.
  TITLE     Knockout mice with pituitary malformations help identify human
            cases of hypopituitarism
  JOURNAL   Genome Med 16 (1), 75 (2024)
   PUBMED   38822427
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2516)
  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   3  (bases 1 to 2516)
  AUTHORS   Szymanska,K., Boldt,K., Logan,C.V., Adams,M., Robinson,P.A.,
            Ueffing,M., Zeqiraj,E., Wheway,G. and Johnson,C.A.
  TITLE     Regulation of canonical Wnt signalling by the ciliopathy protein
            MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1
  JOURNAL   Elife 11, e57593 (2022)
   PUBMED   35170427
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2516)
  AUTHORS   Ingham,N.J., Pearson,S.A., Vancollie,V.E., Rook,V., Lewis,M.A.,
            Chen,J., Buniello,A., Martelletti,E., Preite,L., Lam,C.C.,
            Weiss,F.D., Powis,Z., Suwannarat,P., Lelliott,C.J., Dawson,S.J.,
            White,J.K. and Steel,K.P.
  TITLE     Mouse screen reveals multiple new genes underlying mouse and human
            hearing loss
  JOURNAL   PLoS Biol 17 (4), e3000194 (2019)
   PUBMED   30973865
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2516)
  AUTHORS   Ding,W., Wu,Q., Sun,L., Pan,N.C. and Wang,X.
  TITLE     Cenpj Regulates Cilia Disassembly and Neurogenesis in the
            Developing Mouse Cortex
  JOURNAL   J Neurosci 39 (11), 1994-2010 (2019)
   PUBMED   30626697
REFERENCE   6  (bases 1 to 2516)
  AUTHORS   Yates,L.L., Papakrivopoulou,J., Long,D.A., Goggolidou,P.,
            Connolly,J.O., Woolf,A.S. and Dean,C.H.
  TITLE     The planar cell polarity gene Vangl2 is required for mammalian
            kidney-branching morphogenesis and glomerular maturation
  JOURNAL   Hum Mol Genet 19 (23), 4663-4676 (2010)
   PUBMED   20843830
REFERENCE   7  (bases 1 to 2516)
  AUTHORS   Kamp,A., Peterson,M.A., Svenson,K.L., Bjork,B.C., Hentges,K.E.,
            Rajapaksha,T.W., Moran,J., Justice,M.J., Seidman,J.G.,
            Seidman,C.E., Moskowitz,I.P. and Beier,D.R.
  TITLE     Genome-wide identification of mouse congenital heart disease loci
  JOURNAL   Hum Mol Genet 19 (16), 3105-3113 (2010)
   PUBMED   20511334
REFERENCE   8  (bases 1 to 2516)
  AUTHORS   Weatherbee,S.D., Niswander,L.A. and Anderson,K.V.
  TITLE     A mouse model for Meckel syndrome reveals Mks1 is required for
            ciliogenesis and Hedgehog signaling
  JOURNAL   Hum Mol Genet 18 (23), 4565-4575 (2009)
   PUBMED   19776033
  REMARK    GeneRIF: Mks1 is required for ciliogenesis and shh signaling in
            mouse model of human meckel syndrome.
REFERENCE   9  (bases 1 to 2516)
  AUTHORS   Dawe,H.R., Smith,U.M., Cullinane,A.R., Gerrelli,D., Cox,P.,
            Badano,J.L., Blair-Reid,S., Sriram,N., Katsanis,N.,
            Attie-Bitach,T., Afford,S.C., Copp,A.J., Kelly,D.A., Gull,K. and
            Johnson,C.A.
  TITLE     The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and
            are required for primary cilium formation
  JOURNAL   Hum Mol Genet 16 (2), 173-186 (2007)
   PUBMED   17185389
REFERENCE   10 (bases 1 to 2516)
  AUTHORS   Kyttala,M., Tallila,J., Salonen,R., Kopra,O., Kohlschmidt,N.,
            Paavola-Sakki,P., Peltonen,L. and Kestila,M.
  TITLE     MKS1, encoding a component of the flagellar apparatus basal body
            proteome, is mutated in Meckel syndrome
  JOURNAL   Nat Genet 38 (2), 155-157 (2006)
   PUBMED   16415886
  REMARK    GeneRIF: Mks1 expression in mouse embryos, as determined by in situ
            hybridization, agrees well with the tissue phenotype of MKS.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK044912.1, DQ177342.1 and AA290154.1.
            
            On Jul 6, 2018 this sequence version replaced NM_001039684.2.
            
            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 :: SRR1660815.175829.1, AK030982.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AK044912.1         2-11
            11-2375             DQ177342.1         1-2365
            2376-2516           AA290154.1         40-180
FEATURES             Location/Qualifiers
     source          1..2516
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 52.24 cM"
     gene            1..2516
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /note="MKS transition zone complex subunit 1"
                     /db_xref="GeneID:380718"
                     /db_xref="MGI:MGI:3584243"
     exon            1..115
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..1721
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /note="meckel syndrome type 1 protein homolog; Meckel
                     syndrome, type 1"
                     /codon_start=1
                     /product="tectonic-like complex member MKS1"
                     /protein_id="NP_001034773.2"
                     /db_xref="CCDS:CCDS36271.1"
                     /db_xref="GeneID:380718"
                     /db_xref="MGI:MGI:3584243"
                     /translation="MAEAVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPA
                     AQMGKDLIDLATFRPPQAASGHRPDEEEEEEVVIGWQEKLFSQFEVDLYQNESACQSP
                     LDHQYRQEILKLENSGGRKNRRIFTYTDSDRYTDLEEYCQKITTSASEVPSFLAERMA
                     NVRRRRQDRRGVEGSKLKSRIVTWEPSEDFIKNNHAINTPLQTMYIMADLGPYGKLGY
                     KVHEHVLCILKVDSNGVITVKPDFTGIKGPYRIETEGEKQEHTSAWKYTIDNVSSLAQ
                     PEEEEREQRVFKDLYGRHKEYLSSLVGTDFEMIAPGALRLFVNGEVVSAQGYEYDNLY
                     VHFFVELPAANWSSPPFQQLSGVTQACATKSLGMDKVAYFSFPFTFEAFFLHEDESAE
                     SLPEWPVLYCKVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPMELGLVAELRR
                     FFIGGSLELEDPSYVRIPGTFKGERLSRFGFRTETTGTVTFRLHCLQQSRAFMESNSL
                     QKQMRSVLDRLEGFSQQSSTHNVLEAFRRARRRMQEARESLPQDLVSPTGTLT"
     exon            116..225
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            226..296
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            297..452
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            453..550
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            551..679
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            680..784
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            785..902
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            903..959
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            960..1002
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1068
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1139
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1209
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1317
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            1318..1451
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1534
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1632
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     exon            1633..2499
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2475..2480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /note="hexamer: TATAAA"
     polyA_site      2499
                     /gene="Mks1"
                     /gene_synonym="avc6; B8d3"
                     /note="major polyA site"
ORIGIN      
        1 gctttccggc gcggtcgcag cgcgaagcag ctgtcatggc ggaagcggtc tggagcactg
       61 acaccggcga ggccgtgtat cgctcccggg accccgtgcg caacctgcgc ctccgagttc
      121 atctgcaaag aatcacatca agcaacttcc ttcattacca gcctgctgcc cagatgggga
      181 aggacctcat agacttggcc acttttaggc ctccgcaagc tgctagtgga caccgccctg
      241 acgaagaaga ggaggaagag gttgtaattg gatggcagga aaagctcttt agccagtttg
      301 aagtcgacct gtaccaaaat gaatccgcgt gccagagccc actggatcat cagtaccgcc
      361 aagagatctt gaaactggag aattctggcg gcaggaaaaa ccggcgaatc ttcacttaca
      421 ctgactcgga tagatacacc gacttggaag agtactgtca gaaaataacc acttcagcca
      481 gcgaggtgcc atcgtttctg gctgagcgga tggcgaacgt caggcggcgg cggcaggaca
      541 ggcgaggggt ggagggcagc aaactcaagt ctcggatcgt cacgtgggaa ccctcggaag
      601 acttcatcaa gaacaaccac gctattaaca ctcctcttca gacaatgtac atcatggcgg
      661 acctgggacc ctatggaaag cttggctata aggtacatga gcacgtgctc tgcatcctga
      721 aggtggacag caatggcgtg atcacagtga agcctgactt caccggcatc aaaggaccct
      781 acagaatcga aactgaggga gagaagcagg aacacacttc tgcttggaaa tacacaattg
      841 acaacgtgtc ctccctcgca cagccagagg aggaagagcg ggagcagcga gtgttcaagg
      901 acctttacgg ccggcacaag gagtacctca gcagcctcgt gggcacagac tttgagatga
      961 ttgccccagg tgccctccgg ctctttgtga acggagaggt ggtttcagcc caaggctatg
     1021 agtatgacaa cctctacgtc cacttctttg tggagctgcc agctgctaac tggtccagcc
     1081 cgccattcca gcagctctcg ggagtaaccc aggcctgtgc caccaaatcc ctgggaatgg
     1141 acaaggtggc ctatttctcc tttccgttca cattcgaagc cttctttctg catgaggacg
     1201 aatcggctga gtccctcccg gagtggcctg tgctctactg taaggtcctc tcactggact
     1261 tctggcagag gtatcgtgtg gaaggctacg gggctgtggt gctgcctgcc actccaggat
     1321 cccacaccct gactgtctcc acatggaggc ccatggagct gggtctcgtg gcagagctaa
     1381 ggaggttctt cattggcggc tctctggagc tggaggaccc atcctatgtg aggataccag
     1441 gaaccttcaa gggggagcgc ctgagccgct ttggattccg cactgagaca acgggtactg
     1501 tcaccttccg attgcactgc ctgcagcagt cccgggcttt catggaatcg aactccctcc
     1561 agaaacagat gcggagtgtg ttggaccgtc tggaagggtt cagccagcag agttccacgc
     1621 acaacgtgct agaagcattc cgtcgagccc ggcgtcggat gcaggaggcc cgagagagcc
     1681 tcccccagga ccttgtgagc cccacgggaa cgttgaccta gttctctgca accctggcct
     1741 gtggagcaag ggaaagatgt ctgcatccag tgctctcact ttgtcttgct tattagagac
     1801 cacattggtc gaccaaactg gatgatctag aaacttccca ccggctcccc tgcctcatct
     1861 tcagcaggac attctttcct ccatgcagaa gtcaagcctg agactctggg gccccacctg
     1921 acaccctgct catgttttgg ctatcaaaca cgggcatcat aacaaggcag gccgtgcagt
     1981 ctgaaactcg tctgggggaa acccagcatt agcctctcct cagtacagtg tcttttctgg
     2041 tttgtcctgg aacctccata gcagagggct ccaaaaggga gtttggcaac caggcgtaat
     2101 ggtgcacaca cctttaatcc cagcactcaa gtggcagagg caggaggata tctatgaatt
     2161 tgaggccagc ctggtctaca tagtgagttc ccagacagcc agagcaacat agtgagaccc
     2221 tgtctcaaag caacaacaaa agcagacagc agcagcatgg agtttggcat cttccgagga
     2281 ggaaggtgca ttccggagct tagactcttg tttcttccaa gaaaaggtga gagtaagggg
     2341 cctcaacttc ctggctaagt ctctgtcccc tgacatttta gggctggctg gctttgggac
     2401 atagcctggg ggagttctca gttctcctgc tggctgggcg gggtctttta ttgtatttgt
     2461 ttgtttgttt ttcatataaa aagtatttat attgactgaa aaaaaaaaaa aaaaaa
//
