LOCUS       NM_010840               6008 bp    mRNA    linear   ROD 07-AUG-2024
DEFINITION  Mus musculus methylenetetrahydrofolate reductase (Mthfr),
            transcript variant 2, mRNA.
ACCESSION   NM_010840
VERSION     NM_010840.3
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 6008)
  AUTHORS   Sasner,M., Preuss,C., Pandey,R.S., Uyar,A., Garceau,D.,
            Kotredes,K.P., Williams,H., Oblak,A.L., Lin,P.B., Perkins,B.,
            Soni,D., Ingraham,C., Lee-Gosselin,A., Lamb,B.T., Howell,G.R. and
            Carter,G.W.
  TITLE     In vivo validation of late-onset Alzheimer's disease genetic risk
            factors
  JOURNAL   Alzheimers Dement 20 (7), 4970-4984 (2024)
   PUBMED   38687251
REFERENCE   2  (bases 1 to 6008)
  AUTHORS   Leclerc,D., Christensen,K.E., Reagan,A.M., Keser,V., Luan,Y.,
            Malysheva,O.V., Wasek,B., Bottiglieri,T., Caudill,M.A., Howell,G.R.
            and Rozen,R.
  TITLE     Folate Deficiency and/or the Genetic Variant Mthfr677C >T Can Drive
            Hepatic Fibrosis or Steatosis in Mice, in a Sex-Specific Manner
  JOURNAL   Mol Nutr Food Res 68 (5), e2300355 (2024)
   PUBMED   38327171
  REMARK    GeneRIF: Folate Deficiency and/or the Genetic Variant Mthfr[677C
            >T] Can Drive Hepatic Fibrosis or Steatosis in Mice, in a
            Sex-Specific Manner.
REFERENCE   3  (bases 1 to 6008)
  AUTHORS   Gal,A., Raykin,E., Giladi,S., Lederman,D., Kofman,O. and Golan,H.M.
  TITLE     Temporal dynamics of isolation calls emitted by pups in
            environmental and genetic mouse models of autism spectrum disorder
  JOURNAL   Front Neurosci 17, 1274039 (2023)
   PUBMED   37942134
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6008)
  AUTHORS   Sadigurschi,N., Scrift,G., Hirrlinger,J. and Golan,H.M.
  TITLE     Genetic impairment of folate metabolism regulates cortical
            interneurons and social behavior
  JOURNAL   Front Neurosci 17, 1203262 (2023)
   PUBMED   37449270
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6008)
  AUTHORS   Sun,D., Zhang,X., Tang,C., Zhao,Q., Qin,Y. and Zhang,J.
  TITLE     Mild methylenetetrahydrofolate reductase deficiency accelerates
            liver triacylglycerol and uric acid accumulation in fructose-fed
            mice
  JOURNAL   Nutr Res 108, 33-42 (2022)
   PUBMED   36399975
  REMARK    GeneRIF: Mild methylenetetrahydrofolate reductase deficiency
            accelerates liver triacylglycerol and uric acid accumulation in
            fructose-fed mice.
REFERENCE   6  (bases 1 to 6008)
  AUTHORS   de Lecea,L., Ruiz-Lozano,P., Danielson,P.E., Peelle-Kirley,J.,
            Foye,P.E., Frankel,W.N. and Sutcliffe,J.G.
  TITLE     Cloning, mRNA expression, and chromosomal mapping of mouse and
            human preprocortistatin
  JOURNAL   Genomics 42 (3), 499-506 (1997)
   PUBMED   9205124
REFERENCE   7  (bases 1 to 6008)
  AUTHORS   Finnell,R.H., Wlodarczyk,B.C., Craig,J.C., Piedrahita,J.A. and
            Bennett,G.D.
  TITLE     Strain-dependent alterations in the expression of folate pathway
            genes following teratogenic exposure to valproic acid in a mouse
            model
  JOURNAL   Am J Med Genet 70 (3), 303-311 (1997)
   PUBMED   9188671
REFERENCE   8  (bases 1 to 6008)
  AUTHORS   Yehiely,F., Bamborough,P., Da Costa,M., Perry,B.J., Thinakaran,G.,
            Cohen,F.E., Carlson,G.A. and Prusiner,S.B.
  TITLE     Identification of candidate proteins binding to prion protein
  JOURNAL   Neurobiol Dis 3 (4), 339-355 (1997)
   PUBMED   9173930
  REMARK    Erratum:[Neurobiol Dis 2002 Jun;10(1):67-8]
REFERENCE   9  (bases 1 to 6008)
  AUTHORS   Marks,P.W. and Kwiatkowski,D.J.
  TITLE     Genomic organization and chromosomal location of murine Cdc42
  JOURNAL   Genomics 38 (1), 13-18 (1996)
   PUBMED   8954774
REFERENCE   10 (bases 1 to 6008)
  AUTHORS   Frosst,P., Zhang,Z., Pai,A. and Rozen,R.
  TITLE     The methylenetetrahydrofolate reductase (Mthfr) gene maps to distal
            mouse chromosome 4
  JOURNAL   Mamm Genome 7 (11), 864-865 (1996)
   PUBMED   8875901
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL606929.13, AK030192.1, BC100550.1 and BB726553.1.
            
            On Jun 17, 2009 this sequence version replaced NM_010840.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream
            translational start codon, compared to variant 1. The encoded
            isoform (b) is shorter at the N-terminus, compared to isoform a.
            
            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 :: AK030192.1, SRR10223969.5109.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AL606929.13        38998-39003
            7-2652              AK030192.1         2-2647
            2653-5995           BC100550.1         1121-4463
            5996-6008           BB726553.1         407-419
FEATURES             Location/Qualifiers
     source          1..6008
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 78.67 cM"
     gene            1..6008
                     /gene="Mthfr"
                     /note="methylenetetrahydrofolate reductase"
                     /db_xref="GeneID:17769"
                     /db_xref="MGI:MGI:106639"
     exon            1..56
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     exon            57..302
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..2034
                     /gene="Mthfr"
                     /EC_number="1.5.1.53"
                     /note="isoform b is encoded by transcript variant 2;
                     5,10-methylenetetrahydrofolate reductase;
                     methylenetetrahydrofolate reductase (NADPH)"
                     /codon_start=1
                     /product="methylenetetrahydrofolate reductase (NADPH)
                     isoform b"
                     /protein_id="NP_034970.2"
                     /db_xref="CCDS:CCDS18929.1"
                     /db_xref="GeneID:17769"
                     /db_xref="MGI:MGI:106639"
                     /translation="MVNEARGSGSPNPRSEGSSSGSESSKDSSRCSTPSLDPERHERL
                     REKMRRRMDSGDKWFSLEFFPPRTAEGAVNLISRFDRMAAGGPLFVDVTWHPAGDPGS
                     DKETSSMMIASTAVNYCGLETILHMTCCQQRPEEITGHLHRAKQLGLKNIMALRGDPV
                     GDHWEAEEGGFSYATDLVKHIRTEFADYFDICVAGYPRGHPDAESFEDDLKHLKEKVS
                     AGADFIITQLFFEASTFFSFVKACTEIGISCPILPGIFPIQGYTSLRQLVKLSKLEVP
                     QKIKDVIEPIKDNDAAIRNYGIELAVSLCRELLDSGLVPGLHFYTLNREVATMEVLKQ
                     LGMWTEDPRRPLPWALSAHPKRREEDVRPIFWASRPKSYIYRTQDWDEFPNGRWGNSS
                     SPAFGELKDYYLFYLKSKSPREELLKMWGEELTSEESVFEVFEHYLSGEPNRHGYRVT
                     CLPWNDEPLAAETSLMKEELLRVNRLGILTINSQPNINAKPSSDPVVGWGPSGGYVFQ
                     KAYLEFFTSRETVEALLQVLKTYELRVNYHIVDVKGENITNAPELQPNAVTWGIFPGR
                     EIIQPTVVDPISFMFWKDEAFALWIEQWGKLYEEESPSRMIIQYIHDNYFLVNLVDNE
                     FPLDSCLWQVVEDTFELLNRHPTERETQAP"
     exon            303..541
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     exon            542..652
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     exon            653..846
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     exon            847..1097
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1232
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1413
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1596
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     exon            1597..1698
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     exon            1699..1818
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     exon            1819..6008
                     /gene="Mthfr"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2616..2621
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mthfr"
                     /note="hexamer: AAGAAA"
     polyA_site      2656
                     /gene="Mthfr"
     regulatory      5972..5977
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mthfr"
                     /note="hexamer: ATTAAA"
     polyA_site      5995
                     /gene="Mthfr"
                     /note="major polyA site"
ORIGIN      
        1 ttcttcgcca gccctaggga ggtggcaccc tcgccgccac cgatctgacg caagagcagg
       61 aatccagcca tggtgaacga ggccagagga agtggcagtc ccaacccgcg atctgagggc
      121 agcagcagtg gcagcgagag ttccaaggac agttcaagat gttccacccc cagcctggac
      181 ccagagcggc acgagagact ccgggagaag atgaggcgca gaatggactc tggtgacaag
      241 tggttctccc tggagttctt cccccctcga actgctgagg gagctgttaa cctcatctcc
      301 aggtttgacc ggatggcagc agggggcccc ctcttcgtag atgttacctg gcacccagct
      361 ggagaccctg gctcagacaa ggagacctcc tccatgatga tcgccagcac agcagtaaac
      421 tactgcggct tggaaaccat cctgcatatg acctgctgcc agcagcgccc ggaggagatc
      481 acaggccatc tgcacagagc caagcagctg ggcctgaaga acataatggc gctgagggga
      541 gaccctgtag gtgaccactg ggaagcagag gaaggaggct tcagctatgc cacagacctg
      601 gtgaagcaca tccggaccga gtttgctgac tattttgaca tctgtgtggc aggttacccc
      661 agaggccacc ccgatgcaga gagcttcgag gatgacctga agcatttgaa ggagaaggta
      721 tctgcaggcg ccgacttcat tatcactcag ctcttctttg aggccagcac cttcttcagc
      781 tttgtgaagg cctgcacaga gataggcatc tcttgcccta tcctgcctgg gatcttccct
      841 attcagggct acacttccct tcggcagctt gtaaaactgt ccaagctgga ggtgccacag
      901 aagatcaagg atgtaattga gcccatcaaa gacaacgatg ctgccatccg caactacggc
      961 attgagctgg ctgtaagcct gtgccgggag ctgctggaca gtggcttggt gccaggcctc
     1021 cacttctata ccctcaaccg cgaggtggcc accatggagg tgctaaagca actgggcatg
     1081 tggaccgagg accccaggcg tcccttgccc tgggctctca gtgcgcatcc caagcgccgg
     1141 gaggaagatg tccgtcccat cttctgggcc tccagaccaa agagctacat ctaccgcaca
     1201 caggactggg atgagtttcc taacggccgc tggggtaatt cttcctcacc agcctttggg
     1261 gagctgaaag actactacct cttctacctg aaaagcaagt cccccaggga ggagctgctg
     1321 aagatgtggg gcgaggagct caccagcgaa gagagtgtct ttgaagtctt tgaacactac
     1381 ctctctggag agccgaatcg ccatggctac agagtaacct gcctgccctg gaacgatgaa
     1441 cccctggcag cggaaaccag cctgatgaag gaagagctgc tccgcgtgaa caggctgggc
     1501 atcctcacca tcaactctca gcccaacatc aacgcaaaac catcctcaga ccctgttgtg
     1561 ggctggggcc ccagtggggg ttatgtcttc cagaaggcct acctcgaatt cttcacctcc
     1621 cgtgaaactg tggaggcgct tctgcaggtg ctgaagacat acgagctgcg ggtcaactac
     1681 cacatcgtgg acgtgaaggg agagaacatc actaatgccc ctgagctgca gcccaatgcc
     1741 gtgacgtggg gcatcttccc gggtcgagag atcatccagc ctactgtggt ggaccccatc
     1801 agcttcatgt tctggaagga tgaggccttt gccctgtgga tcgagcagtg gggcaagcta
     1861 tacgaggagg agtcgccatc ccgcatgatc atccaataca tccatgacaa ctatttcctg
     1921 gtcaacctgg tggacaacga gttcccgctg gacagctgcc tgtggcaggt ggtggaggac
     1981 acgtttgagc tgctcaacag gcatcccacg gagagagaga cacaggctcc atgagcctgc
     2041 atctctcaac aggcacacca tggagagaga gacacaggct ctgtgagcct gcatccctca
     2101 acaggcacac cacggagaga gagacacagg ctccgtgagc ctgcatcccg gtatcttcct
     2161 cacctggagc ccctctccct catctctcta cacaggataa tggcagctag actagcagga
     2221 agcgtcccgg ctctggctgg acctaagatg ccccgtcgag gaggctgatg ctctctgctc
     2281 aagcccagag cccgtgttct tgctgtggca agcgcctcca tcctcagggg gaggagacca
     2341 gagattgccc agccactgca ccaaggcagc ctctaggagg tgaactttga cctggggtct
     2401 gtgtgagaca gacagtaggc actgtgaaat actgaaggag gtaggaagag atgtgcaaat
     2461 gagggtacag aaacctcctc cctgctcagc ggactacaca ccaggtcccc aagagaggcc
     2521 tggctggtaa cacaagcctt tcttgccatc ttaggccaaa gagtgcagga gttctgcctc
     2581 tgcagaaggt tggttgtgtc tgttctgtgg ctgggaagaa agtgcccctt cagggttaaa
     2641 agcgttctgt cctcaatgga ggcttgctct tggccttgtt ttctgtcctc ttagcgagat
     2701 ttacctgggc agggcccagc tcttcccgtg gctgtatgaa gcctgctccc ttgcttctga
     2761 gcagactcct gccagctgca ccgtcttctc tgttgggcct agactagggg ctgtccctgg
     2821 cactcctccc cagtcagccc tcaggcctgg ctgcctgggg cagtgactgg caggcacaga
     2881 tgactgctcc cagcctgctg gtcttgtttg agtcagggaa tgggagaaag cggtccgtag
     2941 agcaacttag ggagagcagg gggttcctgc cctcgtctcc caggcctggg tgactgcagt
     3001 ggagagcagc cttggagaga atgagcagaa gcagccagga ggaggaggtc cttttattgt
     3061 cccagagctc caggcgctgg cccctccaac tgtgggcctg ttccctccct cggaaggctg
     3121 ggcttggttc tcttatttct caggaatatt tcatagctgc tgctggcccc tactcacccc
     3181 atgcctgcta cacctgagcc actgtaaact gtttccagga gcacaggctg ctgctagttc
     3241 ttctcatggg ctcttggcta ccaaacgctg gtgccacttt tcaaaggctt ggaggcaggg
     3301 caggaagtac tgcttgtctc aggctccctc cagggtctgt actgggcctg tcagacttga
     3361 cacctaagcc atgttctgtg tgtctcaacc agaggccctt tcctttgccc tggcagccag
     3421 cccaccctgt ctctgcccaa atatctaggc tcagaataga ctggacttgt gacccgggaa
     3481 gctatgcccc gtgacctgca aacaagacat ctgttctgga cgcaggccct gcaaggacca
     3541 gcatggggag ccactgccac aaacagactg gttctctgag tgagtgaaac tgatacttgg
     3601 ctgggcttga ggcccctagt caagggctct aatgtccagg ctgtgtgctc tgtaaccaat
     3661 ggccaattca actgaatgag gatagcgcag ggtggtgagc agggacaccc tcccctctcc
     3721 ctggctcagc ctggaggtgg cactggtctt ggagggctgg ctgggtgaac caaggtaaag
     3781 tcacctggaa aaggacccgg ctctcttctc tctggtgtag ctgttgagcc acccggagct
     3841 gaaggacctt tttctgccat gtcctccacg cctgttccag gtgccattgt ctgagctaca
     3901 gagagagttg atagaaaaga tcctctgcca tcctgtcagc cctggccctt ctgctgccac
     3961 cccagggtga aggagatgtg acaaggggcc atcacctaag aaatgttaat aagtgatcac
     4021 acctgagccc atccctaagg ctttgggcat gaggtgcaat tagtagttag tgcctccagc
     4081 tagccaaggg atacatagga tgagtgggga gttgttccca gggcctctgc ttggtacaga
     4141 ggagctgagc ctccctacca gagcccaaga cagctgctcc acccagtgaa catctaccca
     4201 gcgctgccat gcccttgcca ggctccaggc ctgctgggaa acctgactat gccaacacta
     4261 taggtacctg tccctgcagg ccaagaacat ctaacctctt caacagcaaa gaacaagagg
     4321 cccaggctcg gccattctgc cagagttgaa aaatcccttg cctgaaggga ctgaccaccc
     4381 ctcccatgca cagctggtcc acctttgagg agcctggcct tggcccttca gggccctagt
     4441 ctcagagctg cagggctcac ctattcctgt agggggccag tggagggccc gtgcaggcag
     4501 tggcagccag aactcgaggg ctgggcagag gggtctctct gtgacacctg aaaaggagac
     4561 ttgggtcagg agaggatgat gccttgattt aaaagaacag aagccccacc cacctacccc
     4621 tcaagtctcc aggctgtggg ctggcccaag gcgctaatgg gaaaagaagg gaattcttca
     4681 agtagctggg acactcaaga agagatggac aggggcattg tttcaaaggg tgtggcctga
     4741 ggactgagac tcaaagccca ggttgtggtc ctctgtgcct cttccatgtg gccgtgccag
     4801 gctgagcagc acattctcta cagcaggtgg ccagcagctg tgagtctgaa ggaagagcag
     4861 ggggacaagg accaactgca atgggcttga ccctgctgac cacaaggggg tcctgcctgc
     4921 ctcctgccag agcaggctcc cacctgcgtg cataatgggg cgcttcacct gacactcagg
     4981 agtcccaaga cccccagatg aggcaagcca cccgtagtgg cacagctccc tctgaccatc
     5041 ctccccgttg gctgaaaaca tctaagcaga ggctggctca gtactgcggt ggagctcagg
     5101 ccagccctga gattgacatt atgctcctga attaagcttt agatgttgcc gaagccttgc
     5161 ctctcacatg tggcctgact ccaaggtctg ggctcccaac taatgcagca tacacagggg
     5221 attcacagca ccacagaatg gctcgccacc tgcacgtgtt gccaggggaa ggctacctgg
     5281 gcatgcatga acctgtggta aagagcagga ccctgggtac cattctcagt gtctgcgtgt
     5341 ttctagaaac ctcagtttat cagcatatca gccctgcctt cactaacaag aagagaatga
     5401 aagtacatat acttttaaaa ggttctagtg tactggtgaa atttcacgac gctgaggcaa
     5461 gagggcgaga ggctgcctca tgagcttgaa gccacctgga ctgtataagc tgggtctaca
     5521 aagcctgtaa catcaacaag cccaacagca tgaggcccat ggtgtgccag caccctgagc
     5581 ccgtacgagg attctgaaac ccagcaacgc tagtcttgca attctgtttc aaaggcaaag
     5641 ccactttgat gccttatgtt ctttccaaag ttaattctgt tcctctggca tctgagcaag
     5701 agtcttggtg aggccagatt gtctttggga acactgtcta gcctgccagg gacttgggct
     5761 gagtccccta gttacatctg cagacctcta ggcagtgttg tttcttgcac ctggcatttg
     5821 tgattatctc tctcctcctg ataggccttc agcctctcac tgttgtgtca gagctaagaa
     5881 cttctggtct gaaggtgact ttttggtaca gaaaagagaa aaacccaaat ttctacttta
     5941 ttttctaaaa tgagcacatt gcatttttcc aattaaaaaa aaattgctgt ctccatatag
     6001 ctgttttt
//
