Incidental Mutation 'IGL00790:Idh1'
ID 11398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Idh1
Ensembl Gene ENSMUSG00000025950
Gene Name isocitrate dehydrogenase 1 (NADP+), soluble
Synonyms IDPc, Idh-1, Id-1, E030024J03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00790
Quality Score
Status
Chromosome 1
Chromosomal Location 65197775-65225638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 65205281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 228 (Q228P)
Ref Sequence ENSEMBL: ENSMUSP00000127307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097709] [ENSMUST00000149310] [ENSMUST00000169032] [ENSMUST00000186222] [ENSMUST00000188109] [ENSMUST00000188876]
AlphaFold O88844
Predicted Effect possibly damaging
Transcript: ENSMUST00000097709
AA Change: Q228P

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095316
Gene: ENSMUSG00000025950
AA Change: Q228P

DomainStartEndE-ValueType
Iso_dh 9 401 1.05e-133 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149310
SMART Domains Protein: ENSMUSP00000117853
Gene: ENSMUSG00000025950

DomainStartEndE-ValueType
Iso_dh 9 143 1.74e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169032
AA Change: Q228P

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127307
Gene: ENSMUSG00000025950
AA Change: Q228P

DomainStartEndE-ValueType
Iso_dh 9 401 1.05e-133 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186222
SMART Domains Protein: ENSMUSP00000140694
Gene: ENSMUSG00000025950

DomainStartEndE-ValueType
Pfam:Iso_dh 9 84 3.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188109
SMART Domains Protein: ENSMUSP00000140757
Gene: ENSMUSG00000025950

DomainStartEndE-ValueType
Iso_dh 9 202 1.1e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188876
SMART Domains Protein: ENSMUSP00000139906
Gene: ENSMUSG00000025950

DomainStartEndE-ValueType
Iso_dh 9 187 2.2e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Electrophoretic variation has been shown in tissues of liver, kidney, spleen and muscle. Strains C57BL/6, C3H/He carry the a allele; DBA/2 carries the b allele; M.m. castaneus and M.m. molossinus carry the c allele; the d allele is found at low frequencyin M. m. molossinus in Japan. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Targeted, other(3) Gene trapped(11)

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 A T 17: 66,291,175 (GRCm39) N1419K probably benign Het
Arhgef18 A G 8: 3,479,553 (GRCm39) E79G probably damaging Het
Art4 T A 6: 136,831,493 (GRCm39) Q216L probably damaging Het
Bbs4 T C 9: 59,231,348 (GRCm39) D407G probably benign Het
Cherp A G 8: 73,222,090 (GRCm39) I277T probably damaging Het
Cnot2 A G 10: 116,342,976 (GRCm39) M119T probably benign Het
Disp2 T A 2: 118,616,759 (GRCm39) C73S probably damaging Het
Dock4 T C 12: 40,884,390 (GRCm39) S1686P probably damaging Het
Dsc1 C T 18: 20,227,953 (GRCm39) G468S probably damaging Het
Duox2 T A 2: 122,122,781 (GRCm39) D551V possibly damaging Het
Gmip T A 8: 70,269,661 (GRCm39) Y585* probably null Het
Gnal A G 18: 67,267,360 (GRCm39) probably null Het
Igsf10 A T 3: 59,226,938 (GRCm39) I2245N probably damaging Het
Mrgpra4 A T 7: 47,631,052 (GRCm39) M183K possibly damaging Het
Npr2 T A 4: 43,641,612 (GRCm39) V472D possibly damaging Het
Pcdh7 A T 5: 57,878,806 (GRCm39) N787I probably damaging Het
Phf8-ps A G 17: 33,286,361 (GRCm39) V147A probably damaging Het
Ppp1r10 A T 17: 36,235,751 (GRCm39) N111I probably damaging Het
Ppp3ca A G 3: 136,640,942 (GRCm39) N508D probably benign Het
Rgs17 A G 10: 5,862,624 (GRCm38) Q25P possibly damaging Het
Slco6d1 T A 1: 98,348,925 (GRCm39) probably benign Het
Tab3 T A X: 84,665,210 (GRCm39) N591K probably damaging Het
Tfcp2 T C 15: 100,411,059 (GRCm39) probably benign Het
Them5 A T 3: 94,250,716 (GRCm39) D93V probably damaging Het
Thoc5 T G 11: 4,868,147 (GRCm39) V275G probably damaging Het
Trmt1l T C 1: 151,318,463 (GRCm39) probably null Het
Zdbf2 G T 1: 63,345,673 (GRCm39) V1351F possibly damaging Het
Zfp14 G T 7: 29,738,312 (GRCm39) Y224* probably null Het
Zfp606 T G 7: 12,228,159 (GRCm39) M702R probably damaging Het
Other mutations in Idh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Idh1 APN 1 65,205,402 (GRCm39) missense probably damaging 1.00
IGL00979:Idh1 APN 1 65,210,308 (GRCm39) missense probably damaging 1.00
IGL01397:Idh1 APN 1 65,207,754 (GRCm39) missense possibly damaging 0.62
IGL02226:Idh1 APN 1 65,201,081 (GRCm39) missense probably damaging 1.00
IGL02933:Idh1 APN 1 65,201,072 (GRCm39) missense probably damaging 1.00
B5639:Idh1 UTSW 1 65,204,257 (GRCm39) critical splice donor site probably null
R0310:Idh1 UTSW 1 65,201,079 (GRCm39) missense probably damaging 1.00
R0865:Idh1 UTSW 1 65,200,315 (GRCm39) missense probably benign
R1172:Idh1 UTSW 1 65,200,319 (GRCm39) missense probably benign 0.00
R1173:Idh1 UTSW 1 65,200,319 (GRCm39) missense probably benign 0.00
R1174:Idh1 UTSW 1 65,200,319 (GRCm39) missense probably benign 0.00
R1535:Idh1 UTSW 1 65,207,697 (GRCm39) missense probably damaging 1.00
R1833:Idh1 UTSW 1 65,200,273 (GRCm39) missense probably benign
R2135:Idh1 UTSW 1 65,201,078 (GRCm39) missense probably damaging 1.00
R5434:Idh1 UTSW 1 65,214,495 (GRCm39) missense probably benign 0.00
R5478:Idh1 UTSW 1 65,200,997 (GRCm39) missense probably benign 0.04
R5633:Idh1 UTSW 1 65,204,295 (GRCm39) missense probably damaging 1.00
R6152:Idh1 UTSW 1 65,198,689 (GRCm39) missense probably damaging 1.00
R6249:Idh1 UTSW 1 65,205,378 (GRCm39) missense probably damaging 1.00
R6252:Idh1 UTSW 1 65,207,690 (GRCm39) missense probably benign
R7238:Idh1 UTSW 1 65,205,284 (GRCm39) missense probably damaging 1.00
R7754:Idh1 UTSW 1 65,198,649 (GRCm39) missense probably benign 0.00
R7819:Idh1 UTSW 1 65,204,277 (GRCm39) missense probably damaging 1.00
R8064:Idh1 UTSW 1 65,205,338 (GRCm39) missense probably damaging 1.00
R8078:Idh1 UTSW 1 65,200,225 (GRCm39) missense probably damaging 0.97
R8187:Idh1 UTSW 1 65,198,700 (GRCm39) missense probably damaging 0.98
R8778:Idh1 UTSW 1 65,204,347 (GRCm39) frame shift probably null
R8779:Idh1 UTSW 1 65,204,347 (GRCm39) frame shift probably null
R8791:Idh1 UTSW 1 65,204,347 (GRCm39) frame shift probably null
R8794:Idh1 UTSW 1 65,204,347 (GRCm39) frame shift probably null
R8795:Idh1 UTSW 1 65,204,347 (GRCm39) frame shift probably null
R8799:Idh1 UTSW 1 65,204,347 (GRCm39) frame shift probably null
R8802:Idh1 UTSW 1 65,204,347 (GRCm39) frame shift probably null
R8805:Idh1 UTSW 1 65,204,347 (GRCm39) frame shift probably null
R8935:Idh1 UTSW 1 65,204,378 (GRCm39) missense probably damaging 1.00
R9243:Idh1 UTSW 1 65,207,656 (GRCm39) critical splice donor site probably null
R9326:Idh1 UTSW 1 65,205,416 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06