Incidental Mutation 'R2085:Me1'
ID 230267
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 040090-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2085 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 86463416-86577967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86495607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 280 (Q280R)
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: Q300R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418
AA Change: Q300R

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: Q280R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418
AA Change: Q280R

DomainStartEndE-ValueType
malic 59 240 7.34e-106 SMART
Malic_M 250 502 1.09e-111 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189968
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik G T 11: 69,791,198 (GRCm39) T127K possibly damaging Het
A2m T G 6: 121,653,918 (GRCm39) I1417S probably damaging Het
Acad10 A G 5: 121,787,523 (GRCm39) I142T possibly damaging Het
Adprm T A 11: 66,932,678 (GRCm39) D77V probably damaging Het
Apob C T 12: 8,062,240 (GRCm39) T3574I probably damaging Het
Bahcc1 A G 11: 120,178,908 (GRCm39) K2489R probably damaging Het
Bub1b A G 2: 118,452,676 (GRCm39) E443G possibly damaging Het
Cd9 A T 6: 125,440,734 (GRCm39) probably null Het
Cgnl1 G A 9: 71,538,160 (GRCm39) T1194M probably damaging Het
Clec9a T C 6: 129,387,274 (GRCm39) V43A probably benign Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Dpep3 A G 8: 106,701,346 (GRCm39) V401A probably damaging Het
Duox2 G T 2: 122,111,448 (GRCm39) H1417N probably damaging Het
Efhb C T 17: 53,733,937 (GRCm39) probably null Het
F2r T C 13: 95,741,418 (GRCm39) N39S probably benign Het
Fcamr T C 1: 130,739,335 (GRCm39) F212L probably damaging Het
Galt G A 4: 41,758,162 (GRCm39) R309Q probably damaging Het
Gas2l2 C A 11: 83,318,209 (GRCm39) A167S probably benign Het
Hecw1 A T 13: 14,438,672 (GRCm39) F904I possibly damaging Het
Herc2 C A 7: 55,862,713 (GRCm39) H4127Q possibly damaging Het
Hipk1 T C 3: 103,657,670 (GRCm39) T805A probably benign Het
Hivep1 A G 13: 42,337,226 (GRCm39) E2435G probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep2 C A 10: 14,015,273 (GRCm39) C1813* probably null Het
Hyal4 C T 6: 24,755,749 (GRCm39) probably benign Het
Inpp4b A G 8: 82,678,903 (GRCm39) Y311C probably damaging Het
Itih4 A G 14: 30,614,280 (GRCm39) Y410C possibly damaging Het
Lama2 A T 10: 27,080,837 (GRCm39) C995* probably null Het
Lingo4 C A 3: 94,309,552 (GRCm39) D163E probably damaging Het
Malt1 A G 18: 65,606,218 (GRCm39) D642G probably damaging Het
Mbd4 T A 6: 115,825,918 (GRCm39) M358L probably benign Het
Mbd5 T A 2: 49,169,323 (GRCm39) F1498Y possibly damaging Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or13p10 T C 4: 118,523,301 (GRCm39) S196P probably damaging Het
Or1e1 T C 11: 73,245,247 (GRCm39) S223P possibly damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5h18 C T 16: 58,848,232 (GRCm39) V13I probably benign Het
Or8b1c A G 9: 38,384,223 (GRCm39) Y60C probably damaging Het
Polr2j T C 5: 136,145,625 (GRCm39) F7L probably damaging Het
Ppp1r16a T A 15: 76,577,796 (GRCm39) D303E probably damaging Het
Prickle2 T C 6: 92,353,345 (GRCm39) E763G probably damaging Het
Rdh11 T C 12: 79,229,556 (GRCm39) Y239C possibly damaging Het
Sdhaf3 A G 6: 6,956,048 (GRCm39) R8G probably benign Het
Sgk2 T C 2: 162,854,890 (GRCm39) S305P probably damaging Het
Sptbn2 A G 19: 4,788,587 (GRCm39) S1189G probably benign Het
Stab2 A G 10: 86,790,023 (GRCm39) L581P probably damaging Het
Tifab T C 13: 56,324,110 (GRCm39) Q111R probably damaging Het
Ubr3 C T 2: 69,784,108 (GRCm39) R775C probably damaging Het
Usp17lb T A 7: 104,489,622 (GRCm39) Q434L possibly damaging Het
Wdr46 G T 17: 34,160,425 (GRCm39) E135* probably null Het
Zfp318 T A 17: 46,720,590 (GRCm39) probably null Het
Zfp874a T A 13: 67,590,967 (GRCm39) H239L probably damaging Het
Zscan29 A T 2: 121,000,427 (GRCm39) L60* probably null 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
R1601:Me1 UTSW 9 86,560,065 (GRCm39) missense probably damaging 1.00
R1807:Me1 UTSW 9 86,532,932 (GRCm39) missense probably damaging 0.98
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'- CATTTCCAGAGTCTCCTACAATGAC -3'
(R):5'- ACTGATGTTTCTTGCCGTATGCTAG -3'

Sequencing Primer
(F):5'- GAGTCTCCTACAATGACATAAGATGC -3'
(R):5'- TAGGGACAGTTAAACACAGGTTCTC -3'
Posted On 2014-09-18