Incidental Mutation 'R1601:Me1'
ID 176158
Institutional Source Beutler Lab
Gene Symbol Me1
Ensembl Gene ENSMUSG00000032418
Gene Name malic enzyme 1, NADP(+)-dependent, cytosolic
Synonyms Mdh-1, Mod-1, D9Ertd267e, Mod1
MMRRC Submission 039638-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1601 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 86463416-86577967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 86560065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 52 (Y52D)
Ref Sequence ENSEMBL: ENSMUSP00000140887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034989] [ENSMUST00000185374]
AlphaFold P06801
Predicted Effect probably damaging
Transcript: ENSMUST00000034989
AA Change: Y72D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418
AA Change: Y72D

DomainStartEndE-ValueType
malic 79 260 7.34e-106 SMART
Malic_M 270 522 1.09e-111 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000185374
AA Change: Y52D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418
AA Change: Y52D

DomainStartEndE-ValueType
malic 59 240 7.34e-106 SMART
Malic_M 250 502 1.09e-111 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit decreased body weight on a medium fat diet, altered cytoplasmic malic enzyme activity, and a male-specific reduction in food intake on a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik G A 3: 68,777,546 (GRCm39) S169N probably benign Het
Adgra2 T C 8: 27,600,046 (GRCm39) probably null Het
Adgrb2 T C 4: 129,886,630 (GRCm39) S257P probably benign Het
Adgre1 A G 17: 57,748,353 (GRCm39) K518E probably benign Het
Anxa7 A T 14: 20,514,683 (GRCm39) Y64* probably null Het
Arhgef7 A G 8: 11,832,638 (GRCm39) probably null Het
Cdc42bpa T A 1: 179,892,566 (GRCm39) Y243* probably null Het
Cdk14 C T 5: 5,185,378 (GRCm39) V176M probably damaging Het
Cnbd2 A G 2: 156,175,551 (GRCm39) E54G probably damaging Het
Crx T C 7: 15,601,736 (GRCm39) probably null Het
Cyp24a1 A G 2: 170,327,611 (GRCm39) F511L possibly damaging Het
Ddx11 A G 17: 66,457,380 (GRCm39) M810V probably damaging Het
Dock10 T C 1: 80,527,519 (GRCm39) T1077A probably benign Het
Dop1a G A 9: 86,418,303 (GRCm39) D2011N probably damaging Het
Ehhadh T A 16: 21,585,158 (GRCm39) H241L probably benign Het
Elp1 T A 4: 56,774,756 (GRCm39) K740* probably null Het
Enah A T 1: 181,747,185 (GRCm39) L523* probably null Het
Fabp3 T C 4: 130,202,641 (GRCm39) L24P probably benign Het
Fat2 A G 11: 55,172,836 (GRCm39) S2626P probably benign Het
Fbxo4 A G 15: 3,998,447 (GRCm39) M337T possibly damaging Het
Gas6 G T 8: 13,515,786 (GRCm39) T662N probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Hrh4 G A 18: 13,148,955 (GRCm39) V106I possibly damaging Het
Ido2 G T 8: 25,066,205 (GRCm39) H20Q possibly damaging Het
Itga10 G T 3: 96,560,974 (GRCm39) R613L possibly damaging Het
Itsn2 T C 12: 4,708,452 (GRCm39) S836P probably benign Het
Kcng3 A T 17: 83,895,768 (GRCm39) C233S probably damaging Het
Kdm3b A G 18: 34,941,784 (GRCm39) Q625R probably damaging Het
Kidins220 A G 12: 25,055,087 (GRCm39) S553G probably benign Het
Krt82 A T 15: 101,453,588 (GRCm39) I266N probably damaging Het
Lama5 A T 2: 179,839,538 (GRCm39) L736Q probably damaging Het
Lnx2 A G 5: 146,970,329 (GRCm39) C138R probably damaging Het
Mcm5 T C 8: 75,845,982 (GRCm39) C397R possibly damaging Het
Muc4 C A 16: 32,575,875 (GRCm39) probably benign Het
Myo18b G T 5: 113,019,364 (GRCm39) Q638K possibly damaging Het
Ncapd2 A G 6: 125,162,735 (GRCm39) L170P probably damaging Het
Neb A T 2: 52,177,264 (GRCm39) L1359* probably null Het
Nomo1 C A 7: 45,696,379 (GRCm39) S299Y probably damaging Het
Onecut1 A T 9: 74,769,973 (GRCm39) H132L probably benign Het
Or2b2 C A 13: 21,887,396 (GRCm39) T75K probably damaging Het
Or2w3 A T 11: 58,556,903 (GRCm39) R173W probably damaging Het
Or4e2 A C 14: 52,687,899 (GRCm39) T10P probably benign Het
Or7a41 A T 10: 78,871,338 (GRCm39) Y236F possibly damaging Het
Paqr3 A G 5: 97,259,248 (GRCm39) Y19H probably benign Het
Prdx5 T C 19: 6,884,926 (GRCm39) H140R possibly damaging Het
Prox1 T C 1: 189,893,203 (GRCm39) D414G probably damaging Het
Ptprh T G 7: 4,555,637 (GRCm39) E774A probably damaging Het
Rnpepl1 A T 1: 92,844,944 (GRCm39) D412V possibly damaging Het
Sars2 C T 7: 28,448,396 (GRCm39) T259M probably benign Het
Sbf2 T C 7: 109,939,283 (GRCm39) probably null Het
Sbno2 C T 10: 79,896,326 (GRCm39) R898H probably damaging Het
Smox C A 2: 131,362,094 (GRCm39) T172N probably damaging Het
Taf7l2 T C 10: 115,949,521 (GRCm39) S2G probably damaging Het
Tdrd9 C T 12: 111,989,687 (GRCm39) R341* probably null Het
Thrap3 C G 4: 126,073,894 (GRCm39) G284A probably damaging Het
Tmtc4 A G 14: 123,182,238 (GRCm39) V271A probably benign Het
Trank1 A G 9: 111,202,545 (GRCm39) T1637A probably damaging Het
Tspan5 T A 3: 138,602,596 (GRCm39) I166N probably damaging Het
Vps13b T C 15: 35,642,582 (GRCm39) V1398A probably benign Het
Xbp1 C T 11: 5,471,975 (GRCm39) R34W probably damaging Het
Other mutations in Me1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Me1 APN 9 86,480,801 (GRCm39) missense probably damaging 1.00
IGL01326:Me1 APN 9 86,480,771 (GRCm39) critical splice donor site probably null
IGL02231:Me1 APN 9 86,493,908 (GRCm39) missense possibly damaging 0.92
IGL02343:Me1 APN 9 86,536,694 (GRCm39) critical splice donor site probably null
IGL02444:Me1 APN 9 86,464,967 (GRCm39) splice site probably benign
IGL02655:Me1 APN 9 86,536,780 (GRCm39) splice site probably benign
IGL03282:Me1 APN 9 86,495,649 (GRCm39) missense probably damaging 0.99
R0116:Me1 UTSW 9 86,536,720 (GRCm39) missense probably benign 0.01
R0270:Me1 UTSW 9 86,478,257 (GRCm39) splice site probably benign
R0361:Me1 UTSW 9 86,533,055 (GRCm39) missense probably damaging 1.00
R1535:Me1 UTSW 9 86,469,096 (GRCm39) missense probably damaging 0.96
R1807:Me1 UTSW 9 86,532,932 (GRCm39) missense probably damaging 0.98
R2085:Me1 UTSW 9 86,495,607 (GRCm39) missense probably damaging 1.00
R2571:Me1 UTSW 9 86,536,751 (GRCm39) missense probably damaging 1.00
R3012:Me1 UTSW 9 86,493,965 (GRCm39) missense probably benign 0.00
R4649:Me1 UTSW 9 86,561,905 (GRCm39) missense probably benign 0.00
R5540:Me1 UTSW 9 86,561,926 (GRCm39) missense possibly damaging 0.60
R6129:Me1 UTSW 9 86,533,009 (GRCm39) missense probably damaging 1.00
R6727:Me1 UTSW 9 86,464,851 (GRCm39) missense possibly damaging 0.92
R7718:Me1 UTSW 9 86,561,953 (GRCm39) missense probably damaging 1.00
R8329:Me1 UTSW 9 86,501,790 (GRCm39) missense probably damaging 1.00
R8963:Me1 UTSW 9 86,480,844 (GRCm39) missense probably damaging 1.00
R9205:Me1 UTSW 9 86,480,847 (GRCm39) missense probably benign 0.00
R9460:Me1 UTSW 9 86,495,685 (GRCm39) missense probably damaging 1.00
R9696:Me1 UTSW 9 86,469,047 (GRCm39) missense probably damaging 1.00
RF001:Me1 UTSW 9 86,464,876 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAGTGCCATACCTTGGCTTCC -3'
(R):5'- CGTAAGTTAGTGGTTAAACTCTCCCGTG -3'

Sequencing Primer
(F):5'- CGGAATGCCAAACTGTACTG -3'
(R):5'- gacaggctctctcactgaac -3'
Posted On 2014-04-24