Incidental Mutation 'IGL02231:Me1'
ID 285675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Me1
Ensembl Gene ENSMUSG00000032418
Gene Name malic enzyme 1, NADP(+)-dependent, cytosolic
Synonyms Mdh-1, Mod-1, D9Ertd267e, Mod1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02231
Quality Score
Chromosome 9
Chromosomal Location 86463416-86577967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86493908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 322 (K322E)
Ref Sequence ENSEMBL: ENSMUSP00000140887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034989] [ENSMUST00000185374]
AlphaFold P06801
Predicted Effect possibly damaging
Transcript: ENSMUST00000034989
AA Change: K342E

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418
AA Change: K342E

malic 79 260 7.34e-106 SMART
Malic_M 270 522 1.09e-111 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000185374
AA Change: K322E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418
AA Change: K322E

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alcam T A 16: 52,094,413 (GRCm39) probably benign Het
Alox15 A C 11: 70,240,382 (GRCm39) D266E probably benign Het
Atcay A T 10: 81,046,382 (GRCm39) V314E probably damaging Het
Atp8b1 C T 18: 64,683,455 (GRCm39) G758R possibly damaging Het
Bltp2 G A 11: 78,170,722 (GRCm39) G1647D probably benign Het
Cacna2d4 T A 6: 119,254,869 (GRCm39) probably benign Het
Celsr3 T C 9: 108,719,709 (GRCm39) V2429A probably damaging Het
Clspn T G 4: 126,453,021 (GRCm39) D11E probably damaging Het
Cnot3 A G 7: 3,661,209 (GRCm39) T573A probably benign Het
Cyp2d34 A T 15: 82,502,807 (GRCm39) S140T probably benign Het
Edem1 A G 6: 108,805,849 (GRCm39) D50G probably benign Het
Emilin3 G A 2: 160,750,435 (GRCm39) T438I probably damaging Het
Etfdh C T 3: 79,525,700 (GRCm39) V173I probably damaging Het
Fat2 T C 11: 55,171,918 (GRCm39) T2932A probably damaging Het
Fcrl1 G A 3: 87,292,469 (GRCm39) E154K possibly damaging Het
Fcrl1 A T 3: 87,292,470 (GRCm39) E154V probably damaging Het
G3bp1 T A 11: 55,386,273 (GRCm39) L244* probably null Het
Itgae A T 11: 72,981,448 (GRCm39) K2M possibly damaging Het
Kcnq2 T C 2: 180,723,508 (GRCm39) I654V probably benign Het
Ksr2 C T 5: 117,638,841 (GRCm39) R82C probably damaging Het
Lrig3 A T 10: 125,833,041 (GRCm39) D305V probably damaging Het
Med12l T A 3: 59,153,303 (GRCm39) D1109E probably damaging Het
Mest A G 6: 30,740,772 (GRCm39) K73E possibly damaging Het
Nup155 T G 15: 8,173,548 (GRCm39) L881R probably damaging Het
Ocln A T 13: 100,677,622 (GRCm39) S2T probably damaging Het
Oosp3 T C 19: 11,676,803 (GRCm39) L54S probably damaging Het
Pkp3 G A 7: 140,664,151 (GRCm39) E443K probably damaging Het
Plk2 T A 13: 110,536,603 (GRCm39) C632S probably benign Het
Ptk6 C T 2: 180,838,794 (GRCm39) V320I probably damaging Het
Ptprt A T 2: 162,079,980 (GRCm39) I273N probably damaging Het
Ptprt A G 2: 162,119,966 (GRCm39) probably null Het
Rab3gap2 T C 1: 184,999,095 (GRCm39) probably benign Het
Rabgef1 G A 5: 130,240,816 (GRCm39) A312T probably damaging Het
Rabl6 T A 2: 25,488,196 (GRCm39) K109N probably benign Het
Rbp7 C T 4: 149,539,334 (GRCm39) probably null Het
Reg3a C T 6: 78,359,224 (GRCm39) H75Y possibly damaging Het
Rnf123 G T 9: 107,943,598 (GRCm39) P546T probably benign Het
Rnmt C A 18: 68,447,152 (GRCm39) C345* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slc14a2 C T 18: 78,252,236 (GRCm39) S25N possibly damaging Het
Spata16 G T 3: 26,967,413 (GRCm39) G388W probably damaging Het
Speg C T 1: 75,400,031 (GRCm39) R2493W probably damaging Het
Thada T A 17: 84,736,125 (GRCm39) D970V probably damaging Het
Tmem184c A G 8: 78,331,441 (GRCm39) Y103H probably damaging Het
Ttn A T 2: 76,628,440 (GRCm39) D12827E probably damaging Het
Utp20 A G 10: 88,627,030 (GRCm39) L976S probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp936 T A 7: 42,836,909 (GRCm39) 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
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
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
Posted On 2015-04-16