LOCUS       NM_001110013            5990 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus transmembrane and tetratricopeptide repeat containing
            3 (Tmtc3), transcript variant 1, mRNA.
ACCESSION   NM_001110013
VERSION     NM_001110013.1
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 5990)
  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 5990)
  AUTHORS   Jerber,J., Zaki,M.S., Al-Aama,J.Y., Rosti,R.O., Ben-Omran,T.,
            Dikoglu,E., Silhavy,J.L., Caglar,C., Musaev,D., Albrecht,B.,
            Campbell,K.P., Willer,T., Almuriekhi,M., Caglayan,A.O., Vajsar,J.,
            Bilguvar,K., Ogur,G., Abou Jamra,R., Gunel,M. and Gleeson,J.G.
  TITLE     Biallelic Mutations in TMTC3, Encoding a Transmembrane and
            TPR-Containing Protein, Lead to Cobblestone Lissencephaly
  JOURNAL   Am J Hum Genet 99 (5), 1181-1189 (2016)
   PUBMED   27773428
  REMARK    GeneRIF: Our data suggest that loss of TMTC3 causes cobblestone
            lissencephaly with minimal eye or muscle involvement.
REFERENCE   3  (bases 1 to 5990)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   4  (bases 1 to 5990)
  AUTHORS   Yun,E.J. and Vu,T.H.
  TITLE     mSmile is necessary for bronchial smooth muscle and alveolar
            myofibroblast development
  JOURNAL   Anat Rec (Hoboken) 295 (1), 167-176 (2012)
   PUBMED   21956870
REFERENCE   5  (bases 1 to 5990)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK165838.1, AK149759.1 and AC153501.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript from the same
            strain was available for the full length of the gene. The extent of
            this transcript is supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR10223971.10546.1,
                                           SRR9219381.175038.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2082              AK165838.1         2-2083
            2083-2758           AK149759.1         2043-2718
            2759-5990           AC153501.2         43903-47134         c
FEATURES             Location/Qualifiers
     source          1..5990
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 51.47 cM"
     gene            1..5990
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /note="transmembrane and tetratricopeptide repeat
                     containing 3"
                     /db_xref="GeneID:237500"
                     /db_xref="MGI:MGI:3036255"
     exon            1..186
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            187..404
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     CDS             201..2963
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /EC_number="2.4.1.109"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane and TPR repeat-containing protein 3; protein
                     O-mannosyl-transferase TMTC3; transmembrane
                     O-mannosyltransferase targeting cadherins 3"
                     /codon_start=1
                     /product="protein O-mannosyl-transferase TMTC3 isoform 1"
                     /protein_id="NP_001103483.1"
                     /db_xref="CCDS:CCDS48684.1"
                     /db_xref="GeneID:237500"
                     /db_xref="MGI:MGI:3036255"
                     /translation="MLEGKMADINFKEVTLIVSVVAACYWNSLFCGFVFDDVSAILDN
                     KDLHPSTPLKTLFQNDFWGTPMSEERSHKSYRPLTVLTFRLNYLLSELKPMSYHLLNT
                     VFHAVVSVIFLKVCRLFLDKRSSMIAALLFAVHPIHTEAVTGVVGRAELLSSVFFLAA
                     FLSYTKSKGPDNSIVWTPIVLTVFLVAVATLCKEQGITVVGICCVYEVFVAQGYTLPM
                     LCTVAGQFLRGKGSIPLSMLQTLVKLIVLMLSTLLLVVVRVQVIQSQLPVFTRFDNPA
                     AVSPTPTRQLTFNYLLPVNAWLLLNPSELCCDWTMGTIPLIESFLDVRNLATFAFFCF
                     LGALGIFSLRYPGDSSKTVLMALCLMALPFIPASNLFFPVGFVVAERVLYVPSMGFCI
                     LVAHGWQKISNKSVLKKLSWVCLSMVILTHALKTLHRNWDWESEYTLFMSALKVNKNN
                     AKLWNNVGHALENEKNFEKALKYFLQATHVQPDDIGAHMNVGRTYKNLNRTREAEASY
                     MLAKSLMPQIIPGKKYAARIAPNHLNVYINLANLIRANESRLEEADQLYRQAISMRPD
                     FKQAYISRGELLLKMNKPLKAKEAYLKALELDRNNADLWYNLAIVYIELKEPNEALKN
                     FNRALELNPKHKLALFNSAILMQESGEVKLRPEARKRLLNYVNEEPQDANGYFNLGML
                     AMDDKKDSEAESWMKKAIKLQPDFRSALFNLALLYSQTAKELKALPILEELLKYYPDH
                     TKGLILKGDILMNQKKDIPGAKKCFEKILEMDPSNVQGKHNLCVVYFEEKELLKAERC
                     LVETLALAPHEEYIQRHLSIVRDRISSSGIVEQPLAPADKTPGTEEREEIPSEDVKEI
                     SSESRPPQILKTNNNRNSKSNKQSTENADQDAPHKTTKDIKEIEKKRVAALKRLEEIE
                     RILNGE"
     exon            405..623
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            624..723
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            724..839
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            840..1012
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1265
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1414
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1535
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..1647
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            1648..1751
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            1752..1921
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            1922..2148
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     exon            2149..5990
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5963..5968
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /note="hexamer: ATTAAA"
     polyA_site      5984
                     /gene="Tmtc3"
                     /gene_synonym="9130014E20Rik; B130008E12Rik; mSmile"
                     /note="major polyA site"
ORIGIN      
        1 gcgggagtct gcggccgccc tggaagagct gggggaaggc tcgggaggcg ggaggagcgg
       61 ctgctaaggt gcggccgccc cggagtccga gcgtggcagg ctatgactgt gttttctgcg
      121 gagtccttct ccggtccacc atcccagaag ctttcctgaa ccgtctcctg gcggagccgc
      181 cctcagtttg agggtgatcg atgcttgaag ggaagatggc tgatattaac ttcaaagaag
      241 tgactttaat agtcagcgtg gttgccgcct gctactggaa cagcctgttc tgtgggtttg
      301 tttttgatga tgtttcagca atattggata ataaagacct gcatccatct acacctttaa
      361 aaactttatt tcagaatgac ttctggggaa ctcctatgtc tgaggagaga agccacaagt
      421 catacaggcc cttaacggtg ttgacatttc gcttaaatta tctcctcagt gagctgaaac
      481 ccatgtctta ccacctcctg aacacagtgt tccacgctgt cgtcagcgtg atcttcctta
      541 aggtctgcag actctttctg gataagagga gcagcatgat tgcggctctg ctcttcgcag
      601 tgcacccaat ccataccgag gcagtcacag gtgttgtagg aagagcggaa ctcttatcat
      661 ctgtcttttt cctagctgcc tttctctcgt atactaagtc aaaaggacca gataattcca
      721 tagtgtggac cccgattgta ttaaccgtgt ttttagtggc tgttgcaaca ttgtgtaagg
      781 aacaaggaat aacggttgtc ggaatttgtt gtgtatatga agtatttgtg gcccaagggt
      841 acaccttgcc gatgttatgc accgttgccg ggcagtttct gcgcgggaag ggcagcattc
      901 cgttatctat gctgcagaca ctggtgaagc tcattgtcct gatgctcagt accttgctac
      961 tcgttgtggt cagagtccaa gttattcagt cacaacttcc agtgtttacc aggtttgata
     1021 atccagctgc tgtaagccca accccgacac gacagctgac ttttaactat ctccttcctg
     1081 tgaatgcctg gcttctgctg aatccttcgg agctctgctg tgattggacc atggggacaa
     1141 taccactgat agaatcattt ctagatgttc gaaatctcgc cacttttgct ttcttttgct
     1201 ttctgggggc tttgggaata ttcagtctca gataccctgg tgactcctca aagactgtcc
     1261 taatggcgct ttgtttaatg gcgttaccat ttattcccgc atcaaacctg ttctttcctg
     1321 ttggatttgt ggttgctgag cgagtactat atgttcctag catggggttc tgtattttag
     1381 tagcccatgg atggcaaaaa atttcaaaca aaagtgtgct gaaaaagctc tcgtgggttt
     1441 gtctgtccat ggtgatacta acccatgcct tgaaaacact tcatagaaat tgggactggg
     1501 agtcagaata tacattgttt atgtcagccc taaaggtgaa taaaaacaat gccaaattat
     1561 ggaataatgt gggtcatgct ctggagaatg agaagaactt tgagaaagct ttgaaatact
     1621 tcttgcaggc tacccatgtt cagccagatg acatcggtgc ccacatgaat gtaggaagaa
     1681 cttataaaaa cttaaacaga actagagaag ctgaagcgtc ttacatgctg gctaaatcac
     1741 tgatgcctca gattatccct ggtaaaaaat atgcagccag aattgcccct aatcacctaa
     1801 acgtttatat caatctggcc aaccttattc gagcaaatga gtcccgcctg gaggaagcgg
     1861 accagctgta ccgacaggcc atcagcatga ggccagactt caaacaggct tacattagca
     1921 ggggagagtt gcttttaaaa atgaataagc ctctcaaagc aaaggaagca tatcttaaag
     1981 cactagagct ggacagaaat aatgcagatc tctggtacaa cttggcaatt gtttatattg
     2041 aacttaaaga accaaatgaa gctctgaaga actttaatcg agctttggaa ctgaacccta
     2101 aacataagct agcactgttc aattctgcta ttttaatgca ggaatcaggt gaagttaaac
     2161 tcagacctga agctagaaaa cggcttctaa attatgtaaa tgaagagcca caggatgcta
     2221 atggctattt caatttgggg atgctcgcca tggatgacaa aaaggattca gaagctgagt
     2281 cttggatgaa gaaagctatc aaattacaac ctgacttcag aagcgctttg tttaacctgg
     2341 cactcctgta ttcgcagact gctaaggagt taaaggcatt gccaatttta gaagagctgc
     2401 ttaaatacta tcctgaccat accaagggtc tcattttaaa aggagacatt ctgatgaacc
     2461 aaaagaagga tatacctgga gctaaaaagt gttttgaaaa gatcctggaa atggatccaa
     2521 gcaatgtgca ggggaagcac aacctgtgtg ttgtgtactt tgaagagaag gagttactaa
     2581 aagctgagag gtgtcttgtg gaaacattgg cattagcacc tcatgaggag tatattcaac
     2641 gccatttgag tatagtcagg gatagaatct cctcttctgg tattgtggag cagccactgg
     2701 ccccagctga taagactcca ggtacagagg agagagagga aatcccttct gaggatgtaa
     2761 aagaaatcag cagtgaatcc agaccaccac aaatcttaaa aacaaacaat aacagaaact
     2821 ctaaatccaa caagcaatca acagaaaatg cagaccaaga tgccccccat aaaacaacaa
     2881 aagacatcaa agaaattgag aagaaaagag ttgctgcttt gaaaaggcta gaagagattg
     2941 aacgtatttt aaatggagaa taatgctaat tctgcatcat gtaacaatgt ttgcaagacc
     3001 ttcagtctat atcatgcgtt tgcttgttct ggagaccgaa aaatgtcaag aatatatact
     3061 ggtttttcag aaactgtgta aggtcctctc tataggatca aaatgagagt ttcattgaag
     3121 acctacctgt cccaggatat atattttata agctagggca caaattttaa tttgggtgac
     3181 tcaaagagaa atcacaaatt tcaggtcaca atttgaaact tttattacag aaagaaaaag
     3241 gtgtgtgttt aatatacaaa gaaaagggtg gggagtactg gtaaatcttt ctactaatct
     3301 gattgaaaaa tacggggtgt caaagatgaa cccttggaga taagtccgaa ttgtactggg
     3361 ctttgtgaat tcccatttat taactctttt tcatttttct ttacctcttt ggatctagaa
     3421 atggactggt actcatgaaa gacattctct tttcttcagt aattcttctc ataagccaag
     3481 caacattgta ttgcaaatgt atactgtttt ctttctgtgt tctttcattg ggattagaag
     3541 gaatggtagg gaaaaaaaac atgataaagt atatcatgca tcacagagat gacatgttag
     3601 cttaggaatg catttgtcct gcactctaaa ctgtaaagta gggaaagtgt tacacacaca
     3661 cactcctagt ggtgctcact aatactctat tctctttcac actgagagtg ctctgacata
     3721 agctacatta ccatgactac tcatgacact tgctccccaa agggttctgc ttctggcttt
     3781 aagctttaga gtaattagag taatctcctc catcttattc tctctggtct tcagttaaaa
     3841 tcaattttct gtttccaaac taataccttc gccattctta cctacctaag ccactacact
     3901 cagttttgct taactgaagg caacacaatg tgacatttac ttttaaacac tagattcctc
     3961 ttatggtata tattttatta agtatttatt ttaactactg atctttcata aaaattttca
     4021 acgtttagtt taaattgtta gttcccttga gttaactaat ctctaattat atcttagaaa
     4081 ccatacttcc gaaatgtttt ctaagaaact ttttataaat aggtcacaag aaacatgttc
     4141 tgcattaaag acccattcct tttagtttcc cagaggacct gacatagatt tctttctttc
     4201 tttttaaggt aatttaactc tagcactaaa gccagtgggt gttagttctc gacccaggag
     4261 attttggtaa ccatcaaagc agtatcttgt ttcagttttt agagtgtatc tttgtgactt
     4321 cagatatgga gtggagaata cctcatgtac tataacttga agatgaagtt actattctct
     4381 ctgtatatct ctggaaaagt ttttgctgat aatcactaca atgaaaattc taagtggagg
     4441 acagctcagt acataaagtc aaaggaaacc ttttatgata acaaacataa taaaagtttg
     4501 aagactattt tagtaaattt atatagctag tcaagtgatt aagataaata ttaatatcca
     4561 atagttttta tagaaaaaca tcttttatta gcactcataa taatgtctgt cacaaagaaa
     4621 gtactcatac ttgaatttaa tttatttaaa acaaatccat tttgaatagc aattattaat
     4681 tattaccaat caatgatacc caacctcatt tcatactaga atcctgtggg agcttttctg
     4741 aaattgaatc atgcttcagt ctttcccaaa atctctttga gtgattctca tctatagtta
     4801 gagttcaggg ctactgctct aaattagttc agaaaaggtc cttttttttt tctcctgtgt
     4861 taaatttgta aattagtaat gcaacccaat taagttttga tggcttaaat cccactaagg
     4921 aatatattct attgaaaata taaatagtaa attctatcaa acttggttat ggtcaaatta
     4981 atatttaagt ccgtgaaatt ttattgaaac tattcagatg agaagataca ataaatatcg
     5041 ctccaccccc agctgcctca atgctgtcat cttgaagaca tgagaatgta aacattttaa
     5101 gcccagttta ctatcttatg gtttagcact ttggatatct caattttaaa agcacacaca
     5161 cacacacaca cacacacgac atatcacagg attgtgtgca gatataaaag gatatagctt
     5221 aattttcaac attttacaaa tctacttgtc ataagttcta gcaaagcttt gacaatctta
     5281 tgtttctcct tcaccactcg agttcaattc taaattgcta ctataaaaaa ctatagtttc
     5341 cctattaaca tttaaaattg gaagttttct aattcttcta gtgacaagcc ccactcacca
     5401 accctcctct tccaggttag gccttataat gatgctcaaa caggtctgaa ctcaaaggct
     5461 ccagtgatcc tgttgcagtt ccctccctgt gtgcctggga agactggcat gtgcatcctt
     5521 gcccagtccc agtgtgatta tctgacgtca gtgacgttga caataagata actagttata
     5581 tcactttgtt taacgtttcg tttatactct taggtattta gtgtgtgaat tacacaattc
     5641 taataaaaca tcatgccttt ctttacatct cagttttcaa cttcatgtta tagaatgctt
     5701 caaagatgct ttaatgaaaa ttattaagaa tatatagatt tgtatgtcaa tttatacttc
     5761 aaaatccata tatttgtcat atttattttt ttatttgcat ggccaaatga tatttaaaat
     5821 gagccccccc ccccaaatat ctggtaactg ttaaaactct tgtcacttat ccatattaag
     5881 ggttcgttaa aaagtagtta aaattgtatg catttttata ttactatgat ctttgtgtgt
     5941 atcacatttc taaatattca ttattaaatt gttacttttt aaaactttca
//
