LOCUS       NM_139063               1757 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus biogenesis of lysosomal organelles complex-1, subunit
            5, muted (Bloc1s5), mRNA.
ACCESSION   NM_139063
VERSION     NM_139063.3
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 1757)
  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 1757)
  AUTHORS   Larimore,J., Zlatic,S.A., Arnold,M., Singleton,K.S., Cross,R.,
            Rudolph,H., Bruegge,M.V., Sweetman,A., Garza,C., Whisnant,E. and
            Faundez,V.
  TITLE     Dysbindin Deficiency Modifies the Expression of GABA Neuron and Ion
            Permeation Transcripts in the Developing Hippocampus
  JOURNAL   Front Genet 8, 28 (2017)
   PUBMED   28344592
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1757)
  AUTHORS   Gokhale,A., Hartwig,C., Freeman,A.H., Das,R., Zlatic,S.A.,
            Vistein,R., Burch,A., Carrot,G., Lewis,A.F., Nelms,S.,
            Dickman,D.K., Puthenveedu,M.A., Cox,D.N. and Faundez,V.
  TITLE     The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin
            Polymerization Complex to Function Downstream of the Schizophrenia
            Susceptibility Factor Dysbindin at the Synapse
  JOURNAL   J Neurosci 36 (49), 12393-12411 (2016)
   PUBMED   27927957
REFERENCE   4  (bases 1 to 1757)
  AUTHORS   Gokhale,A., Vrailas-Mortimer,A., Larimore,J., Comstra,H.S.,
            Zlatic,S.A., Werner,E., Manvich,D.F., Iuvone,P.M., Weinshenker,D.
            and Faundez,V.
  TITLE     Neuronal copper homeostasis susceptibility by genetic defects in
            dysbindin, a schizophrenia susceptibility factor
  JOURNAL   Hum Mol Genet 24 (19), 5512-5523 (2015)
   PUBMED   26199316
REFERENCE   5  (bases 1 to 1757)
  AUTHORS   Hao,Z., Wei,L., Feng,Y., Chen,X., Du,W., Ma,J., Zhou,Z., Chen,L.
            and Li,W.
  TITLE     Impaired maturation of large dense-core vesicles in muted-deficient
            adrenal chromaffin cells
  JOURNAL   J Cell Sci 128 (7), 1365-1374 (2015)
   PUBMED   25673877
  REMARK    GeneRIF: The muted protein is involved in the selective export of
            CgA during the biogenesis of large dense-core vesicle.
REFERENCE   6  (bases 1 to 1757)
  AUTHORS   Sweet,H.O., Bronson,R.T., Donahue,L.R. and Davisson,M.T.
  TITLE     Mesenchymal dysplasia: a recessive mutation on chromosome 13 of the
            mouse
  JOURNAL   J Hered 87 (2), 87-95 (1996)
   PUBMED   8830098
REFERENCE   7  (bases 1 to 1757)
  AUTHORS   O'Brien,E.P., Novak,E.K., Zhen,L., Manly,K.F., Stephenson,D. and
            Swank,R.T.
  TITLE     Molecular markers near two mouse chromosome 13 genes, muted and
            pearl, which cause platelet storage pool deficiency (SPD)
  JOURNAL   Mamm Genome 6 (1), 19-24 (1995)
   PUBMED   7719021
REFERENCE   8  (bases 1 to 1757)
  AUTHORS   Swank,R.T., Reddington,M., Howlett,O. and Novak,E.K.
  TITLE     Platelet storage pool deficiency associated with inherited
            abnormalities of the inner ear in the mouse pigment mutants muted
            and mocha
  JOURNAL   Blood 78 (8), 2036-2044 (1991)
   PUBMED   1912584
REFERENCE   9  (bases 1 to 1757)
  AUTHORS   Novak,E.K., Hui,S.W. and Swank,R.T.
  TITLE     Platelet storage pool deficiency in mouse pigment mutations
            associated with seven distinct genetic loci
  JOURNAL   Blood 63 (3), 536-544 (1984)
   PUBMED   6696991
REFERENCE   10 (bases 1 to 1757)
  AUTHORS   Lyon,M.F. and Meredith,R.
  TITLE     Muted, a new mutant affecting coat colour and otoliths of the
            mouse, and its position in linkage group XIV
  JOURNAL   Genet Res 14 (2), 163-166 (1969)
   PUBMED   5367369
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF426433.1 and BC024720.1.
            
            On Feb 5, 2019 this sequence version replaced NM_139063.2.
            
            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 :: BC024720.1, AK147762.1 [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
            1-1752              AF426433.1         18-1769
            1753-1757           BC024720.1         1727-1731
FEATURES             Location/Qualifiers
     source          1..1757
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="13"
                     /map="13 18.35 cM"
     gene            1..1757
                     /gene="Bloc1s5"
                     /gene_synonym="1810074A19Rik; mu; Muted"
                     /note="biogenesis of lysosomal organelles complex-1,
                     subunit 5, muted"
                     /db_xref="GeneID:17828"
                     /db_xref="MGI:MGI:2178598"
     exon            1..157
                     /gene="Bloc1s5"
                     /gene_synonym="1810074A19Rik; mu; Muted"
                     /inference="alignment:Splign:2.1.0"
     exon            158..240
                     /gene="Bloc1s5"
                     /gene_synonym="1810074A19Rik; mu; Muted"
                     /inference="alignment:Splign:2.1.0"
     exon            241..370
                     /gene="Bloc1s5"
                     /gene_synonym="1810074A19Rik; mu; Muted"
                     /inference="alignment:Splign:2.1.0"
     exon            371..429
                     /gene="Bloc1s5"
                     /gene_synonym="1810074A19Rik; mu; Muted"
                     /inference="alignment:Splign:2.1.0"
     exon            430..1757
                     /gene="Bloc1s5"
                     /gene_synonym="1810074A19Rik; mu; Muted"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1733..1738
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bloc1s5"
                     /gene_synonym="1810074A19Rik; mu; Muted"
                     /note="hexamer: ATTAAA"
     polyA_site      1757
                     /gene="Bloc1s5"
                     /gene_synonym="1810074A19Rik; mu; Muted"
                     /note="major polyA site"
ORIGIN      
        1 aaaggtccgt gcctgcgccg tggacgccgc gggtgggcgg aactggtcgg gatgagtggc
       61 ggaggcaccg agacccctgt agcgtgcgac gccgcccagg gcggcaagaa gcgggactca
      121 ctggggactc cgggtgcggc gcacctcatt atcaaggatc ttggagagat tcattccagg
      181 ctgctggatc acagaccagt tacccaaggt gaaatccgtt actttgtaaa agaatttgaa
      241 gaaaaacgtg gccttcgaga attgcgcgtt cttaagaact tggagaatac gatccaggaa
      301 acaaatgagt gcctgcttcc caaatgcaga gagaccatgg agtgcggcct gggggagacc
      361 ctgcagagat tgcaagcagc taacgactcc atctgcagac tccagcagag agaacaggaa
      421 cggaaaaagg tgattaatga ctacttgaca gctagtgaga agcgtcgtct ggtccagtgg
      481 gaggagttcg tgagcggaca gccgcagcgc agagctgagg tggacgagga gcacagaaga
      541 gccgtggaga ggctccgaga gcagtatgca gcaatggaga aggacctggc caagttttcc
      601 accttttaag actttgatct aaaagagaca gatgaatgag gaagtgcttt ctcattcccc
      661 caatcctccc accaaccatg tagtctctcc ttcaagctta gcagtacact caggggcact
      721 cttaggtctg aagagagaca ctgccggagc cagatacatg tccagtggaa gaagcgtgct
      781 tctgcaccta actgtggtca tctgaaggag aggagggcgg tggggcacat ttgctgctgg
      841 acagatttga tcttttcatt gattagctta gagggctgtg agtgtagatt tcttcattca
      901 ttccaccaag ggcaaatgtt tgaccttgtg gattaaatgg caggtatgac aacttcccat
      961 cacagcatcc tgtgacagag ataccacagt gggctttgaa cgcttgcttg gagacaccag
     1021 gttttgcagt gcaacacagt gccatgtctt tcactttgtg acaagacatt acatgactgg
     1081 tagccttgta gcacttaata ttttcatttt ctaagctatg cttaggagaa aaaccaaaat
     1141 gtattttgac tttttcctct ccaaggacca tcatctcgcc catagagctc accttgctct
     1201 ccgctccatt tcgctctggg ccagcgctcc acggaacagt gtctgtgcat gactcagctg
     1261 cgcagtgagt cggcagcaga gtctgccaag tccttcccag gccgtgtaag acgggctctg
     1321 ggtgggcaga aagtgctcgc ccacactgat gatgatgtat cagaggtaaa ccctctttgt
     1381 cttagcatcc tttctccagc aggcttgtcc ggatggaaca ccgctgtcta ccaccactgt
     1441 agtatttctg tgcctgcact tagtctaagg aaggaccaca tcaaacgtca tttgctgtaa
     1501 actaaacaag gtcacgcact catttgagat gcatagcctg tgcatttgag gtgtgggtgg
     1561 gtctttctag tatttccttc tcctcagtaa agaagggtaa ggcagagaac ccctaactgt
     1621 cgtgttatct cagaattctc aatgcagaca attgacaatg cgtgcctgtg taaatgtacg
     1681 taaatgtacg gctgactgtg agagcttcgt tcttggctca tgctgaagtg ggattaaagc
     1741 taatagaaga gatgaaa
//
