LOCUS       NM_008650               3675 bp    mRNA    linear   ROD 26-JUN-2024
DEFINITION  Mus musculus methylmalonyl-Coenzyme A mutase (Mmut), mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_008650
VERSION     NM_008650.3
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 3675)
  AUTHORS   Zhang,D., Deng,W., Jiang,T., Zhao,Y., Bai,D., Tian,Y., Kong,S.,
            Zhang,L., Wang,H., Gao,S. and Lu,Z.
  TITLE     Maternal Ezh1/2 deficiency impairs the function of mitochondria in
            mouse oocytes and early embryos
  JOURNAL   J Cell Physiol 239 (6), e31244 (2024)
   PUBMED   38529784
REFERENCE   2  (bases 1 to 3675)
  AUTHORS   Forny,P., Bonilla,X., Lamparter,D., Shao,W., Plessl,T., Frei,C.,
            Bingisser,A., Goetze,S., van Drogen,A., Harshman,K.,
            Pedrioli,P.G.A., Howald,C., Poms,M., Traversi,F., Burer,C.,
            Cherkaoui,S., Morscher,R.J., Simmons,L., Forny,M., Xenarios,I.,
            Aebersold,R., Zamboni,N., Ratsch,G., Dermitzakis,E.T.,
            Wollscheid,B., Baumgartner,M.R. and Froese,D.S.
  TITLE     Integrated multi-omics reveals anaplerotic rewiring in
            methylmalonyl-CoA mutase deficiency
  JOURNAL   Nat Metab 5 (1), 80-95 (2023)
   PUBMED   36717752
  REMARK    GeneRIF: Integrated multi-omics reveals anaplerotic rewiring in
            methylmalonyl-CoA mutase deficiency.
REFERENCE   3  (bases 1 to 3675)
  AUTHORS   Venturoni,L.E., Chandler,R.J., Liao,J., Hoffmann,V., Ramesh,N.,
            Gordo,S., Chau,N. and Venditti,C.P.
  TITLE     Growth advantage of corrected hepatocytes in a juvenile model of
            methylmalonic acidemia following liver directed adeno-associated
            viral mediated nuclease-free genome editing
  JOURNAL   Mol Genet Metab 137 (1-2), 1-8 (2022)
   PUBMED   35868241
REFERENCE   4  (bases 1 to 3675)
  AUTHORS   Head,P.E., Myung,S., Chen,Y., Schneller,J.L., Wang,C., Duncan,N.,
            Hoffman,P., Chang,D., Gebremariam,A., Gucek,M., Manoli,I. and
            Venditti,C.P.
  TITLE     Aberrant methylmalonylation underlies methylmalonic acidemia and is
            attenuated by an engineered sirtuin
  JOURNAL   Sci Transl Med 14 (646), eabn4772 (2022)
   PUBMED   35613279
REFERENCE   5  (bases 1 to 3675)
  AUTHORS   Schneller,J.L., Lee,C.M., Venturoni,L.E., Chandler,R.J., Li,A.,
            Myung,S., Cradick,T.J., Hurley,A.E., Lagor,W.R., Bao,G. and
            Venditti,C.P.
  TITLE     In vivo genome editing at the albumin locus to treat methylmalonic
            acidemia
  JOURNAL   Mol Ther Methods Clin Dev 23, 619-632 (2021)
   PUBMED   34901307
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3675)
  AUTHORS   Calvo,S.E., Pagliarini,D.J. and Mootha,V.K.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of an upstream ORF in this gene, and
            shows that it functions to reduce protein levels by ~61%.
REFERENCE   7  (bases 1 to 3675)
  AUTHORS   Amadou,C., Ribouchon,M.T., Mattei,M.G., Jenkins,N.A., Gilbert,D.J.,
            Copeland,N.G., Avoustin,P. and Pontarotti,P.
  TITLE     Localization of new genes and markers to the distal part of the
            human major histocompatibility complex (MHC) region and comparison
            with the mouse: new insights into the evolution of mammalian
            genomes
  JOURNAL   Genomics 26 (1), 9-20 (1995)
   PUBMED   7782091
REFERENCE   8  (bases 1 to 3675)
  AUTHORS   Wilkemeyer,M.F., Crane,A.M. and Ledley,F.D.
  TITLE     Primary structure and activity of mouse methylmalonyl-CoA mutase
  JOURNAL   Biochem J 271 (2), 449-455 (1990)
   PUBMED   1978672
REFERENCE   9  (bases 1 to 3675)
  AUTHORS   Sertic,J., Vincek,V., Ledley,F.D., Figueroa,F. and Klein,J.
  TITLE     Mapping of the L-methylmalonyl-CoA mutase gene to mouse chromosome
            17
  JOURNAL   Genomics 6 (3), 560-564 (1990)
   PUBMED   1970332
REFERENCE   10 (bases 1 to 3675)
  AUTHORS   Threadgill,D.W., Wilkmeyer,M., Womack,J.E. and Ledley,F.D.
  TITLE     Localization of the murine methylmalonyl CoA mutase (Mut) locus on
            chromosome 17 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 53 (2-3), 112-114 (1990)
   PUBMED   1973376
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY262299.1, AC121932.2, AC121875.2 and AK012766.1.
            
            On May 5, 2010 this sequence version replaced NM_008650.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK146309.1, BC019175.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            regulatory uORF                    :: PMID: 19372376
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-153               BY262299.1         2-154
            154-514             AC121932.2         15873-16233         c
            515-882             AC121932.2         14453-14820         c
            883-1040            AC121932.2         11862-12019         c
            1041-1212           AC121932.2         9357-9528           c
            1213-1461           AC121932.2         6065-6313           c
            1462-1573           AC121932.2         1469-1580           c
            1574-1689           AC121932.2         441-556             c
            1690-1805           AC121875.2         26287-26402
            1806-1937           AC121875.2         27392-27523
            1938-2085           AC121875.2         29515-29662
            2086-2253           AC121875.2         29887-30054
            2254-2601           AC121875.2         31753-32100
            2602-3675           AK012766.1         313-1386
FEATURES             Location/Qualifiers
     source          1..3675
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="17"
                     /map="17 19.55 cM"
     gene            1..3675
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /note="methylmalonyl-Coenzyme A mutase"
                     /db_xref="GeneID:17850"
                     /db_xref="MGI:MGI:97239"
     exon            1..95
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            96..514
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     regulatory      126..149
                     /regulatory_class="uORF"
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19372376]"
                     /note="this uORF is predicted to encode a 7 aa peptide
                     (PMID:19372376)"
     exon            515..882
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1040
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1212
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1461
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1573
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1689
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1690..1805
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1806..1937
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1938..2085
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            2086..2253
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            2254..3675
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3325..3330
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
                     /note="hexamer: AATAAA"
     polyA_site      3346
                     /gene="Mmut"
                     /gene_synonym="D230010K02Rik; Mcm; Mut"
ORIGIN      
        1 gattggctgc cgagctcctg cggcgagcgg gtgtgacccc ggcgtctggg ttcggttctg
       61 aagtccgggc ttggtccggg tgatccccaa acactgaccg ttctcatttc cttttgggag
      121 tattcatgct tcaccatgtt gagagctaag aatcaacttt ttttgctatc gccccattac
      181 ctgaagcagc taaacattcc atcagcttcc agatggaaac gccttctaca ccagcagcaa
      241 ccccttcacc cagaatgggc tgtactggcc aaaaagcagc tgaaaggcaa aaacccagag
      301 gaccttatat ggcacacccc agaagggatc tctataaagc ccttatattc cagggcagat
      361 actctggact tacccgaaga acttccagga gtgaagccat tcacacgggg accatatcct
      421 accatgtata cctataggcc ctggaccatc cgtcagtatg caggctttag tactgtggaa
      481 gaaagcaata aattctataa ggacaatatt aaggctggtc agcaggggtt gtctgttgcc
      541 tttgacttgg caacacatcg tggttatgat tcagacaacc ccagagttcg tggagatgtt
      601 ggaatggctg gagttgctat tgacactgta gaagacacca aaatcctatt tgatggcatt
      661 cctttagaaa aaatgtccgt ttccatgact atgaacggag ctgtcatccc agtcctggca
      721 acatttatag taactgggga agagcaaggt gtgccgaagg agaagctcac tggcacaatt
      781 cagaatgaca tcctaaagga gtttatggtc agaaatactt atatttttcc cccagagcca
      841 tcgatgaaaa ttattgctga cattttccaa tacacagcac agcacatgcc aaaatttaat
      901 tccatttcga ttagcgggta ccatatgcag gaagcaggag ctgatgccat tttagaactg
      961 gcctatacca tcgcagatgg gttggagtac tgcagaactg gactccaggc tggactcaca
     1021 attgatgaat ttgcaccaag gttgtctttc ttctggggaa ttggaatgaa cttctacatg
     1081 gaaatagcca agatgcgagc tgggagaaga ctgtgggctc acttaataga aaaaatgttc
     1141 cagcctaaaa actctaaatc tcttcttcta agagcacact gccagacatc ggggtggtca
     1201 cttactgagc aggatcctta caataacatt gtccgcactg caatcgaagc catggcagct
     1261 gtgtttggag gaacccagtc tttgcatacg aactcttttg atgaagcgct gggtttgccc
     1321 actgtgaaaa gtgcccggat tgctcggaac acacagatca tcattcagga agaatctggg
     1381 atccccaaag tggcggatcc ttggggaggg tcgtacatga tggagtcgct cacaaatgac
     1441 gtttatgagg ctgctctgaa gttgatatat gaagttgaag aaatgggtgg aatggccaaa
     1501 gctgtagctg aaggaatccc taaacttcgc attgaagaat gtgctgcccg aagacaagct
     1561 agaatagatt ctggttctga ggtaattgtt ggagtaaata agtatcagtt ggaaaaagaa
     1621 gactctgtgg aggtcctggc cattgacaac acttcagtgc gtaagaagca gattgaaaaa
     1681 ctcaagaaga ttaaatccag cagggatcaa gctttggctg agcagtgtct cagtgcactt
     1741 acccagtgtg ctgccagtgg agatggcaat attctggctc tggcagtgga tgcagctcgt
     1801 gcaagatgta cagttggaga aatcacggat gccttgaaaa aagtatttgg tgagcataaa
     1861 gctaatgatc gtatggtgag tggagcatat cggcaggagt ttggagaaag taaagagatc
     1921 acatctgcca tcaagagagt taataaattc atggaacgtg aaggtcgcag acctcgtctt
     1981 cttgtggcaa aaatgggaca agatggccat gacaggggag ccaaggtcat tgctacagga
     2041 tttgctgatc ttggttttga tgtggacata ggccctcttt ttcagactcc ccgtgaagtg
     2101 gcgcagcaag ctgtggatgc agatgtccat gctgtgggtg tcagcacact tgctgctggt
     2161 cataaaaccc tcgttcctga gcttatcaaa gaactcaccg ccctggggcg gccagatatc
     2221 cttgtcatgt gtgggggcgt gattccacca caggattatg aatttctgta tgaagttggt
     2281 gtttccaacg tctttggtcc tggaacccgg attccaagag ctgctgtcca agtgcttgat
     2341 gatattgaga agtgtttggc agagaagcag cagtctgtgt aacatctgga tctttagtta
     2401 tgactgaagc agcagtctgt gtaacatctg gatctttagt tatgaccgaa gaaggtagtg
     2461 gtaaatccgt ttcgtcaggt aatcccagca gctcttagaa tgcttgcttt ggaaacctca
     2521 cattaaaaga ttctaactat aaatgtgcag tcatgccaat acacatattt aaagaatctg
     2581 agttcaaaaa aaaaaaaaaa acctctgaaa atcatttata ccaaatatgt tttaagtata
     2641 ttattctaga aaattaaaat ggtatactat ttagaaatag cttacaattc ttataaataa
     2701 ttgaactttt gttttgtttt atcctttgac atggggtctt actatgtagc actggttgtc
     2761 ttgcaactaa ctctgtagaa cagtctggcc tcaaactcac agagatccac ctgcctctgc
     2821 cttcctagta cagggattaa aggtatgtgc ctccatgtcc tgcaaattat taaacttaaa
     2881 aattaaataa aattttaaaa tttaaccgat tcttccttca atttagtgtt gatttgtgta
     2941 ctagaaactc aagttcctgt gttaatttaa taaaataatg acatttatct tacaagaaat
     3001 agtggagggt atttatggat ggatcctcag ccagacctac tattgcttca ataaaagtag
     3061 tgtttatcac cccctgtaca atggaatagg ggacatggta gataggcctt ccaggattgt
     3121 gtcagctcct cacatgggaa tgatattgtt aatgtcaggt tcaaaactct ggaaaagatg
     3181 tgtgtgacgc tctcttaaat gaatgttgat ggacagatgc atttgctata atgacagtct
     3241 aaatctatta cataaagtaa atgaattttc agatctagaa acacgctgat ctgtatacac
     3301 tttcttatta atataagtta taaaaataaa aaaatagtct gaagaactct tgtagtgtga
     3361 tgttacttca ctcattgaag gaagagactc actctgtgtt aacctaatgt attcagcgaa
     3421 ggtgaggtga gcaacaagga ttcttttgta actttctaca ttatagatca aataatattg
     3481 gggagggaaa atcatataat gctgtaaaat taataaacta tactatagtt taatttttag
     3541 accatgactc ttaggagggc atcatgatta ttgttttcta ttttaaagat gagcagtttg
     3601 acgtcaagga caacaatata tttattgtgt tatcttatgt actacttata aagaaatata
     3661 tatttgataa atacg
//
