LOCUS       NM_027914               2753 bp    mRNA    linear   ROD 20-OCT-2024
DEFINITION  Mus musculus Bardet-Biedl syndrome 10 (Bbs10), mRNA.
ACCESSION   NM_027914 XM_125817 XM_917804
VERSION     NM_027914.1
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 2753)
  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 2753)
  AUTHORS   Hassan,S., Hsu,Y., Mayer,S.K., Thomas,J., Kothapalli,A., Helms,M.,
            Baker,S.A., Laird,J.G., Bhattarai,S. and Drack,A.V.
  TITLE     A visually guided swim assay for mouse models of human retinal
            disease recapitulates the multi-luminance mobility test in humans
  JOURNAL   Saudi J Ophthalmol 37 (4), 313-320 (2023)
   PUBMED   38155679
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2753)
  AUTHORS   Hsu,Y., Bhattarai,S., Thompson,J.M., Mahoney,A., Thomas,J.,
            Mayer,S.K., Datta,P., Garrison,J., Searby,C.C., Vandenberghe,L.H.,
            Seo,S., Sheffield,V.C. and Drack,A.V.
  TITLE     Subretinal gene therapy delays vision loss in a Bardet-Biedl
            Syndrome type 10 mouse model
  JOURNAL   Mol Ther Nucleic Acids 31, 164-181 (2022)
   PUBMED   36700052
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2753)
  AUTHORS   Mayer,S.K., Thomas,J., Helms,M., Kothapalli,A., Cherascu,I.,
            Salesevic,A., Stalter,E., Wang,K., Datta,P., Searby,C., Seo,S.,
            Hsu,Y., Bhattarai,S., Sheffield,V.C. and Drack,A.V.
  TITLE     Progressive retinal degeneration of rods and cones in a
            Bardet-Biedl syndrome type 10 mouse model
  JOURNAL   Dis Model Mech 15 (9) (2022)
   PUBMED   36125046
  REMARK    GeneRIF: Progressive retinal degeneration of rods and cones in a
            Bardet-Biedl syndrome type 10 mouse model.
REFERENCE   5  (bases 1 to 2753)
  AUTHORS   Wang,L., Liu,Y., Stratigopoulos,G., Panigrahi,S., Sui,L., Zhang,Y.,
            Leduc,C.A., Glover,H.J., De Rosa,M.C., Burnett,L.C., Williams,D.J.,
            Shang,L., Goland,R., Tsang,S.H., Wardlaw,S., Egli,D., Zheng,D.,
            Doege,C.A. and Leibel,R.L.
  TITLE     Bardet-Biedl syndrome proteins regulate intracellular signaling and
            neuronal function in patient-specific iPSC-derived neurons
  JOURNAL   J Clin Invest 131 (8) (2021)
   PUBMED   33630762
  REMARK    GeneRIF: Bardet-Biedl syndrome proteins regulate intracellular
            signaling and neuronal function in patient-specific iPSC-derived
            neurons.
REFERENCE   6  (bases 1 to 2753)
  AUTHORS   Cognard,N., Scerbo,M.J., Obringer,C., Yu,X., Costa,F., Haser,E.,
            Le,D., Stoetzel,C., Roux,M.J., Moulin,B., Dollfus,H. and Marion,V.
  TITLE     Comparing the Bbs10 complete knockout phenotype with a specific
            renal epithelial knockout one highlights the link between renal
            defects and systemic inactivation in mice
  JOURNAL   Cilia 4, 10 (2015)
   PUBMED   26273430
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2753)
  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   8  (bases 1 to 2753)
  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
REFERENCE   9  (bases 1 to 2753)
  AUTHORS   White,D.R., Ganesh,A., Nishimura,D., Rattenberry,E., Ahmed,S.,
            Smith,U.M., Pasha,S., Raeburn,S., Trembath,R.C., Rajab,A.,
            Macdonald,F., Banin,E., Stone,E.M., Johnson,C.A., Sheffield,V.C.
            and Maher,E.R.
  TITLE     Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and
            confirmation of FLJ23560 as BBS10
  JOURNAL   Eur J Hum Genet 15 (2), 173-178 (2007)
   PUBMED   17106446
  REMARK    GeneRIF: These findings confirm that FLJ23560 (BBS10) mutations are
            a significant cause of BBS.
REFERENCE   10 (bases 1 to 2753)
  AUTHORS   Stoetzel,C., Laurier,V., Davis,E.E., Muller,J., Rix,S.,
            Badano,J.L., Leitch,C.C., Salem,N., Chouery,E., Corbani,S.,
            Jalk,N., Vicaire,S., Sarda,P., Hamel,C., Lacombe,D., Holder,M.,
            Odent,S., Holder,S., Brooks,A.S., Elcioglu,N.H., Silva,E.D.,
            Rossillion,B., Sigaudy,S., de Ravel,T.J., Lewis,R.A., Leheup,B.,
            Verloes,A., Amati-Bonneau,P., Megarbane,A., Poch,O., Bonneau,D.,
            Beales,P.L., Mandel,J.L., Katsanis,N. and Dollfus,H.
  TITLE     BBS10 encodes a vertebrate-specific chaperonin-like protein and is
            a major BBS locus
  JOURNAL   Nat Genet 38 (5), 521-524 (2006)
   PUBMED   16582908
  REMARK    GeneRIF: report a major new BBS locus, BBS10, that encodes a
            previously unknown, rapidly evolving vertebrate-specific
            chaperonin-like protein
            Erratum:[Nat Genet. 2006 Jun;38(6):727. Da Silva, Eduardo
            [corrected to Silva, Eduardo D]]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BB855633.1, BY152247.1, BY122358.1, AK004937.1 and BE686432.1.
            
            On or before Jul 23, 2009 this sequence version replaced
            XM_917804.2, XM_125817.6.
            
            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 :: BB855633.1, BY152247.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                BB855633.1         2-18
            18-30               BY152247.1         5-17
            31-381              BY122358.1         1-351
            382-2487            AK004937.1         688-2793
            2488-2753           BE686432.1         1-266               c
FEATURES             Location/Qualifiers
     source          1..2753
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 58.46 cM"
     gene            1..2753
                     /gene="Bbs10"
                     /gene_synonym="1300007O09Rik"
                     /note="Bardet-Biedl syndrome 10"
                     /db_xref="GeneID:71769"
                     /db_xref="MGI:MGI:1919019"
     exon            1..229
                     /gene="Bbs10"
                     /gene_synonym="1300007O09Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             45..2186
                     /gene="Bbs10"
                     /gene_synonym="1300007O09Rik"
                     /note="bardet-Biedl syndrome 10 protein homolog"
                     /codon_start=1
                     /product="BBSome complex assembly protein BBS10"
                     /protein_id="NP_082190.1"
                     /db_xref="CCDS:CCDS48689.1"
                     /db_xref="GeneID:71769"
                     /db_xref="MGI:MGI:1919019"
                     /translation="MASQGSVTAALRVAEVLESIANRCVGPEGGQVLCTKPTGEVLLS
                     RDGGCLLEALHLEHPLARMIVACVSSHLKKTGDGAKTFIIFLCHLLRGLHAIGEKGKD
                     SFTSENIQSHERHWKNCCQWKSISQALQTFQTQTLGCIVDRSLSRHYLSVFSSSTEGR
                     KLCRHSLELLLEAYFCGRVGRNNHRFISQLMCDYVFKCMACESGVEVFELLDHCFAEL
                     NVGVTGLPVSDSRIIDGLVLPRDFSMYCPADGDIRMVIVTEILQPQFSSAGSEFVLNS
                     ETQFQASQCWITDRTKTVMNHLRGQNVKLLLTSVKQPDLVIYCARLNSISVVECLSAE
                     EVSLVQRITGLSPCVLPEVASQCEISDSTLVKFCKPLILRSKRYVHLGLISTCAFIPH
                     SMVLCGPVLGLVEQHERAFHGAFKMLRQLFTDLDLNYIIQTKQQCNPSPLAYDNSRER
                     NHSPETDKYQDIVAKSKNKLETQTHLEVYSGLGASDTELRAGKPWSAHKKTPIAPSQT
                     DEMLKCLPPERSGIIDNCDLSIENHSTGNPTAEDTGTEISFEHLQVSDNAGKGYTLPV
                     MRKSLDTCTCQGYCSSTVPAGCVLPVGGSFEILMSYYLLSYAKQCRQSDETVISMLIA
                     DALLGIPKILYKPKKGKDSFPHIYMRSLHALQASQPMVSGQSGFESVAGKYQLLTSVL
                     QCLMKILTIDLIINIKRQPQKTADQESEDEF"
     exon            230..2753
                     /gene="Bbs10"
                     /gene_synonym="1300007O09Rik"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 tgcgggcctg acctaacgga agcgttaccc gtggttcctt acccatggcg tcccaggggt
       61 cggtgacggc ggctttgcgg gtggccgagg tgctggagag catcgcgaac cgctgcgtgg
      121 ggcccgaggg cggccaagtg ttgtgtacga agcccaccgg cgaggtgctg cttagcaggg
      181 atggaggctg cctcctggag gcgctgcact tagagcatcc cttagccagg atgatagtgg
      241 cgtgtgtttc cagtcacctt aaaaagacag gagatggtgc taagacattt attatttttc
      301 tttgccattt actcagagga cttcatgcaa tcggagaaaa aggaaaagat tcattcactt
      361 ctgaaaatat tcagagccat gaaaggcatt ggaaaaactg ttgtcagtgg aaatctattt
      421 cccaggctct gcaaacgttt cagacacaaa ccctaggttg tattgtagac cggagtttaa
      481 gcaggcacta cctgtctgtc ttttcttcat ccactgaagg aagaaaactg tgcaggcact
      541 cgctagagtt gctcctggaa gcatactttt gtggaagagt gggaagaaac aatcacagat
      601 tcatttcaca gttgatgtgt gactacgttt tcaagtgtat ggcttgtgaa agtggggttg
      661 aagtatttga gttgttggat cactgttttg cagagttgaa tgttggcgtg acaggccttc
      721 ctgtttcaga ttctagaatc atagatggcc ttgtgcttcc cagggacttt tctatgtact
      781 gcccagcaga tggtgacatt aggatggtga tagtaacaga aatcctccag cctcagtttt
      841 catcggctgg ctcggagttt gttctcaatt cagaaacaca gtttcaggca tctcagtgct
      901 ggatcacgga caggacaaaa acagtaatga accacttgcg tggtcagaat gtaaaactgc
      961 tcctgaccag tgtgaagcaa ccagacctgg ttatttactg tgcaagactt aatagcatat
     1021 cagtggtgga gtgtttatca gccgaagaag tttcccttgt ccagaggatc actggtcttt
     1081 ctccttgtgt cctaccagag gttgcttcac agtgtgaaat ttctgatagt actttggtga
     1141 agttttgcaa gcccctcatc cttagatcca agaggtatgt tcatctcggc ttgattagca
     1201 catgtgcatt tatacctcac tctatggtcc tctgtggacc ggttctgggt cttgttgaac
     1261 agcatgagag agcttttcac ggagcattta agatgcttcg gcagctattt actgaccttg
     1321 atctaaatta catcatacaa accaaacagc aatgtaaccc aagtcctctt gcttatgaca
     1381 atagcagaga gcgtaatcac tcaccagaaa ctgataagta tcaggacata gtagcaaaga
     1441 gcaaaaataa attggaaact caaacacatt tagaagtata ttcaggtttg ggggcttcag
     1501 atacagaatt gagagcaggt aagccgtggt cagcacacaa gaagacacca atagctccat
     1561 cccaaacaga tgaaatgctg aagtgcttgc ctccagaaag aagcgggata attgataact
     1621 gtgacctgtc aattgagaat cattccactg gaaatcctac agcagaagac actggaacag
     1681 aaatttcttt cgaacactta caggtctcag ataatgccgg aaagggttac acgctgccag
     1741 tgatgcgcaa gtcactagat acctgtactt gtcagggtta ttgttcatcc actgtgccag
     1801 caggctgtgt gctgccagtg ggtggaagtt ttgagatttt gatgagttac taccttctca
     1861 gctatgccaa acaatgccga caatcagatg aaactgtcat cagtatgtta atagctgatg
     1921 ctcttctagg catccctaaa atcctttata agcctaagaa gggaaaggac agtttcccac
     1981 acatatacat gcggtctctc catgcactgc aagccagtca acccatggta agtggtcaat
     2041 cagggttcga gtcagtagct ggtaagtacc aattactaac ttcagttctt cagtgtttga
     2101 tgaaaatatt aaccattgat ttaataatca acatcaagag gcaacctcag aaaactgctg
     2161 accaagaatc agaagacgaa ttttaacact cagttttctg ttgctcgaac tttcagtctg
     2221 gggccagaga aatggctcag tgggcaaagg catttaatgg caaacctgac tgactgcctg
     2281 cggtcatcac ccagggtgga aggagagggt gaagtcctga gacatgtcct ttgttgtaca
     2341 cacatgttcg cagacaaaca ctaaacgtta ggaaaaaaat gtattcagct caagctaaat
     2401 attaaaacag gcttctggct gactgaagtc aacccagtcc ttaagtccat tgagtccacc
     2461 agaccattca gacaacaggt atcagctcta tggaacaaaa actggctaaa tctgtctcct
     2521 tgtctctggt ctgcgctagt ctgtctaagg gagcttgcct ctatagctcc ctcttctgta
     2581 ccttttccca ctttgtttcc ttgaactttc tgtatgtcat agagtcgtgt aacctcccca
     2641 cttgaacgag gtcttcacat gccatcttac attgtttgtg aacatgagta taaaatgtta
     2701 tctcttatgt aaagcagtaa ataaaagtca atttttcttt gtaagaagca tgt
//
