Incidental Mutation 'IGL02655:Me1'
ID302325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Me1
Ensembl Gene ENSMUSG00000032418
Gene Namemalic enzyme 1, NADP(+)-dependent, cytosolic
SynonymsMod-1, Mdh-1, Mod1, D9Ertd267e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02655
Quality Score
Status
Chromosome9
Chromosomal Location86581371-86695953 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 86654727 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034989] [ENSMUST00000185374]
Predicted Effect probably benign
Transcript: ENSMUST00000034989
SMART Domains Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418

DomainStartEndE-ValueType
malic 79 260 7.34e-106 SMART
Malic_M 270 522 1.09e-111 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185374
SMART Domains Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418

DomainStartEndE-ValueType
malic 59 240 7.34e-106 SMART
Malic_M 250 502 1.09e-111 SMART
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik G A 1: 105,678,246 V204M probably damaging Het
4930402F06Rik A T 2: 35,380,486 S68T possibly damaging Het
4930544G11Rik T G 6: 65,953,090 V103G probably damaging Het
Adam7 A T 14: 68,516,611 D346E probably damaging Het
Adamts1 A G 16: 85,802,617 S32P probably benign Het
Adamtsl2 T C 2: 27,082,530 probably benign Het
Adgrb2 C A 4: 129,992,179 Y37* probably null Het
Apba3 A G 10: 81,272,954 R547G probably benign Het
Ccnd2 C T 6: 127,148,770 G101D probably damaging Het
Cpm A G 10: 117,683,281 T365A probably benign Het
Cpt2 A G 4: 107,907,427 V380A probably damaging Het
Dnah7b A T 1: 46,116,301 probably benign Het
Enpp1 A C 10: 24,677,974 D105E probably damaging Het
Ermp1 C A 19: 29,646,210 E127* probably null Het
Evi5 T C 5: 107,813,580 K375R probably benign Het
Gm11564 A T 11: 99,815,156 C149* probably null Het
Golgb1 A T 16: 36,918,080 E2260D probably damaging Het
Gpc2 T C 5: 138,278,925 D80G possibly damaging Het
Hsd11b2 A G 8: 105,522,328 I151V probably benign Het
Knl1 T C 2: 119,070,992 I1058T possibly damaging Het
Krtap4-8 A T 11: 99,780,628 probably benign Het
Mki67 C T 7: 135,714,019 R38H probably damaging Het
Nsmaf A G 4: 6,424,933 F272L possibly damaging Het
Pcyox1 A T 6: 86,389,344 V78E probably damaging Het
Pkp1 G T 1: 135,889,773 T208N probably benign Het
Plagl2 T C 2: 153,232,417 E188G probably damaging Het
Pramef20 A G 4: 144,372,846 F450L probably benign Het
Ric1 T A 19: 29,595,451 S764T probably damaging Het
Sec24a G A 11: 51,734,655 T247M probably benign Het
Slc25a17 C T 15: 81,323,643 R248Q probably benign Het
Stk36 C T 1: 74,634,535 P1068S probably damaging Het
Tcn2 C A 11: 3,926,158 S90I possibly damaging Het
Tfec C T 6: 16,834,309 A200T possibly damaging Het
Vmn2r4 A G 3: 64,398,465 I512T probably damaging Het
Other mutations in Me1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Me1 APN 9 86598748 missense probably damaging 1.00
IGL01326:Me1 APN 9 86598718 critical splice donor site probably null
IGL02231:Me1 APN 9 86611855 missense possibly damaging 0.92
IGL02343:Me1 APN 9 86654641 critical splice donor site probably null
IGL02444:Me1 APN 9 86582914 splice site probably benign
IGL03282:Me1 APN 9 86613596 missense probably damaging 0.99
R0116:Me1 UTSW 9 86654667 missense probably benign 0.01
R0270:Me1 UTSW 9 86596204 splice site probably benign
R0361:Me1 UTSW 9 86651002 missense probably damaging 1.00
R1535:Me1 UTSW 9 86587043 missense probably damaging 0.96
R1601:Me1 UTSW 9 86678012 missense probably damaging 1.00
R1807:Me1 UTSW 9 86650879 missense probably damaging 0.98
R2085:Me1 UTSW 9 86613554 missense probably damaging 1.00
R2571:Me1 UTSW 9 86654698 missense probably damaging 1.00
R3012:Me1 UTSW 9 86611912 missense probably benign 0.00
R4649:Me1 UTSW 9 86679852 missense probably benign 0.00
R5540:Me1 UTSW 9 86679873 missense possibly damaging 0.60
R6129:Me1 UTSW 9 86650956 missense probably damaging 1.00
R6727:Me1 UTSW 9 86582798 missense possibly damaging 0.92
R7718:Me1 UTSW 9 86679900 missense probably damaging 1.00
R8329:Me1 UTSW 9 86619737 missense probably damaging 1.00
RF001:Me1 UTSW 9 86582823 missense probably damaging 1.00
Posted On2015-04-16