LOCUS       NM_001008502            2463 bp    mRNA    linear   ROD 20-OCT-2024
DEFINITION  Mus musculus Bardet-Biedl syndrome 12 (Bbs12), transcript variant
            1, mRNA.
ACCESSION   NM_001008502 XM_143181 XM_359381
VERSION     NM_001008502.2
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 2463)
  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 2463)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2463)
  AUTHORS   Mockel,A., Obringer,C., Hakvoort,T.B., Seeliger,M., Lamers,W.H.,
            Stoetzel,C., Dollfus,H. and Marion,V.
  TITLE     Pharmacological modulation of the retinal unfolded protein response
            in Bardet-Biedl syndrome reduces apoptosis and preserves light
            detection ability
  JOURNAL   J Biol Chem 287 (44), 37483-37494 (2012)
   PUBMED   22869374
REFERENCE   4  (bases 1 to 2463)
  AUTHORS   Marion,V., Mockel,A., De Melo,C., Obringer,C., Claussmann,A.,
            Simon,A., Messaddeq,N., Durand,M., Dupuis,L., Loeffler,J.P.,
            King,P., Mutter-Schmidt,C., Petrovsky,N., Stoetzel,C. and
            Dollfus,H.
  TITLE     BBS-induced ciliary defect enhances adipogenesis, causing
            paradoxical higher-insulin sensitivity, glucose usage, and
            decreased inflammatory response
  JOURNAL   Cell Metab 16 (3), 363-377 (2012)
   PUBMED   22958920
  REMARK    GeneRIF: Despite increased obesity, glucose tolerance was increased
            with specific enhanced insulin sensitivity in the adipocytes of
            Bbs12 knockout mice.
REFERENCE   5  (bases 1 to 2463)
  AUTHORS   Seo,S., Baye,L.M., Schulz,N.P., Beck,J.S., Zhang,Q., Slusarski,D.C.
            and Sheffield,V.C.
  TITLE     BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family
            chaperonins and mediate BBSome assembly
  JOURNAL   Proc Natl Acad Sci U S A 107 (4), 1488-1493 (2010)
   PUBMED   20080638
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL691478.5 and BC085509.1.
            
            On Apr 11, 2007 this sequence version replaced NM_001008502.1.
            
            Transcript Variant: This variant (1) 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 and
            orthologous data.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660815.275214.1, BQ127345.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849379, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                AL691478.5         70680-70711
            33-1053             AL691478.5         77176-78196
            1054-2463           BC085509.1         263-1672
FEATURES             Location/Qualifiers
     source          1..2463
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 18.41 cM"
     gene            1..2463
                     /gene="Bbs12"
                     /gene_synonym="Gm1805; Gm407; Gm721"
                     /note="Bardet-Biedl syndrome 12"
                     /db_xref="GeneID:241950"
                     /db_xref="MGI:MGI:2686651"
     exon            1..32
                     /gene="Bbs12"
                     /gene_synonym="Gm1805; Gm407; Gm721"
                     /inference="alignment:Splign:2.1.0"
     exon            33..2433
                     /gene="Bbs12"
                     /gene_synonym="Gm1805; Gm407; Gm721"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..2169
                     /gene="Bbs12"
                     /gene_synonym="Gm1805; Gm407; Gm721"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Bardet-Biedl syndrome 12 protein homolog;
                     chaperonin-containing T-complex member BBS12"
                     /codon_start=1
                     /product="chaperonin-containing T-complex member BBS12
                     isoform 1"
                     /protein_id="NP_001008502.2"
                     /db_xref="CCDS:CCDS38417.1"
                     /db_xref="GeneID:241950"
                     /db_xref="MGI:MGI:2686651"
                     /translation="MEMACRVINRRRHVGLQQLLSFAQTGRSFLGPVKATKFITDAEC
                     HESVLISSTVRLLEGLDLTCAVGHLLNEAVQAQNNTYKIGTSTLLFLVGAWSRAVEDC
                     LHLGIPTTVIVSVMSEGLNSCIEAVVSLQVPIHNVFDHMDNTSTVYKLETVNATLCPF
                     LQDPSGSGLLQEKRDFKDATSPLLSTYSLSGRHAESPKFFKPQNNLETEKNTLQVLKN
                     NLYTDSFCKKSALAHSRHFNRTDNSHWISRHDGFLEQLESTPKVLRCNDFGELAVGLS
                     HGDHSSMALAKAAVRLQWQSLCLQQANWMAPFMFDISRLLTCCIPGLPETFSRVGLGY
                     VTFVTMSSITLIKELQDQPFRVILIEGDLTESYRHLGFNKSVNIKTKLDSGELSEDSA
                     EELWTNHVLQVLIQFNVTLILVQGSVSEHLTEKCMHSKRLVIGAVNGSVLQAFAEATR
                     AVPVAYVTQVNEDCVGSGVSVTFWMSPHDINRSNRIAILLTAEGINLITAVLTSPASA
                     QMETKEDRFWSCVYRLYHALKEEKVFLGGGAVEFLCLSHLQILAEQSLNRGNHACLGW
                     LPDSSSWMASSLSVYRPTVLKSLAGGWHEFLSAIMCNTATHPSAVEARTFIQQHVQNA
                     IDSGSPSSYILSEYSKLSSGVFHSGISDNLELVPRVYDTVTPKIEAWRRALDVVLLVL
                     QTDSEIITGLVHTEMNSQELDGVLFL"
     regulatory      2410..2415
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bbs12"
                     /gene_synonym="Gm1805; Gm407; Gm721"
                     /note="hexamer: AATAAA"
     polyA_site      2433
                     /gene="Bbs12"
                     /gene_synonym="Gm1805; Gm407; Gm721"
                     /note="major polyA site"
ORIGIN      
        1 ctgggttccg gcgctgtgca gatccgcgcg tgataattat tcatggagat ggcttgcagg
       61 gtcataaaca gaagaaggca tgtgggactt caacaacttt tgtcatttgc acaaacagga
      121 agaagtttcc taggtccagt aaaagccacc aagtttatta cagatgcaga gtgtcatgaa
      181 agtgtgttga tcagctcaac agtcaggctt ctagaaggat tggatttaac ctgtgcagtg
      241 gggcaccttc tcaacgaagc agttcaagca cagaataaca catacaaaat tggaaccagc
      301 actcttttgt ttcttgtcgg tgcatggagc agggctgttg aagattgtct ccatctgggg
      361 attcccacta cagtaatagt gtcggtaatg tcagaaggct tgaactcttg cattgaagca
      421 gtagtttctc ttcaagtacc catacacaat gtatttgacc acatggacaa cacaagtaca
      481 gtttacaaac ttgaaacagt taatgccact ttgtgtcctt ttctacaaga cccttcaggt
      541 tctgggttgt tacaggaaaa gcgtgatttc aaagatgcta catctccgtt attgtccact
      601 tacagtcttt ctgggagaca tgctgagtca cccaaattct tcaaacctca gaataatctt
      661 gaaacagaaa aaaacacatt gcaagttttg aaaaacaatc tatatacaga ttccttctgc
      721 aaaaagtcag cactagctca cagtaggcat tttaatagga cagataatag ccactggata
      781 agccgacatg atggatttct agaacaactt gaatcaactc cgaaagtact tagatgtaat
      841 gattttgggg agttagcagt tggcttgagc catggagatc acagcagcat ggcattggcc
      901 aaagcagcag tgaggttgca gtggcagagt ctgtgtctgc agcaagccaa ctggatggca
      961 ccctttatgt ttgatatttc aagacttctc acttgctgta ttccaggtct acctgaaact
     1021 ttttcccgtg ttggtctagg atatgtcact tttgttacca tgtctagtat tactcttatc
     1081 aaggaattgc aggatcagcc tttccgagtg attctcattg agggtgacct cacagagagt
     1141 taccgacacc tgggatttaa taagtctgta aatattaaga ctaagttaga tagtggggag
     1201 ctttcagaag atagtgcaga agaactgtgg acaaatcatg tgttacaggt gttaatccag
     1261 ttcaatgtga ccctcatctt ggtacaagga agtgtatcag aacacttgac tgaaaaatgc
     1321 atgcacagta agcggctggt aattggggca gtgaatggca gtgtgttgca ggcatttgca
     1381 gaggccacaa gagcagtgcc agtagcctat gttacacaag tgaatgaaga ctgtgtaggc
     1441 agcggggtct ctgtgacctt ctggatgagt cctcatgata taaacaggag caacagaata
     1501 gcaatcttgt taacagcaga aggaattaat ttgattacag cagtacttac tagtccagca
     1561 agtgctcaga tggaaaccaa ggaagacagg ttctggtctt gtgtgtatcg tttatatcat
     1621 gccctaaaag aagagaaggt cttccttggc ggtggtgctg ttgaattttt atgtcttagc
     1681 catcttcaaa ttcttgctga gcaatcttta aatagaggaa accatgcttg tttaggatgg
     1741 cttcctgatt cttcctcttg gatggcctca tctctgtccg tctacagacc tactgtgctg
     1801 aagtccctgg caggtgggtg gcatgaattc ctgtcagcta tcatgtgtaa cactgccact
     1861 cacccatcag cagtggaagc taggacattc attcaacaac atgtacaaaa tgccattgac
     1921 tctggctccc cttcatctta catcttgagt gaatatagta aactaagtag tggagttttt
     1981 cattcaggta tttcagataa cctggagctg gttccaagag tttatgatac tgttacacca
     2041 aagattgaag catggcgccg agcattggat gtagtgctct tagtgcttca gacagacagt
     2101 gaaataatta ctggacttgt acacacagag atgaattcac aggaattaga tggagtttta
     2161 tttttgtagt atgtgtgcgc acacgtgtgg gtgtgcatgc atgtgtgtgc atgcacatgt
     2221 acgtaggtgc ctgatgaggc cagaagaggg gattggatcc cctggagcta taattatagg
     2281 taagccaccc aacagtgtgt gctggaaacc cagctgtata agaacagcaa gcacttttga
     2341 gtcatttctc cagacttaat aaattttaat agtcatatca taatgtgtaa attaccagct
     2401 attgtcaaga ataaaagagt tgatgtctat caaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     2461 aaa
//
