Incidental Mutation 'IGL00786:Idh1'
ID13546
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Idh1
Ensembl Gene ENSMUSG00000025950
Gene Nameisocitrate dehydrogenase 1 (NADP+), soluble
SynonymsId-1, Idh-1, IDPc, E030024J03Rik
Accession Numbers

Genbank: NM_001111320, NM_010497 

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00786
Quality Score
Status
Chromosome1
Chromosomal Location65158616-65186500 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65166243 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 188 (S188P)
Ref Sequence ENSEMBL: ENSMUSP00000127307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097709] [ENSMUST00000149310] [ENSMUST00000169032] [ENSMUST00000186222] [ENSMUST00000188109] [ENSMUST00000188876]
Predicted Effect probably damaging
Transcript: ENSMUST00000097709
AA Change: S188P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095316
Gene: ENSMUSG00000025950
AA Change: S188P

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 probably damaging
Transcript: ENSMUST00000169032
AA Change: S188P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127307
Gene: ENSMUSG00000025950
AA Change: S188P

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 damaging
Transcript: ENSMUST00000188109
AA Change: S188P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140757
Gene: ENSMUSG00000025950
AA Change: S188P

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
4930402F06Rik T C 2: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in Idh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Idh1 APN 1 65166122 missense possibly damaging 0.94
IGL00979:Idh1 APN 1 65171149 missense probably damaging 1.00
IGL01397:Idh1 APN 1 65168595 missense possibly damaging 0.62
IGL02226:Idh1 APN 1 65161922 missense probably damaging 1.00
IGL02933:Idh1 APN 1 65161913 missense probably damaging 1.00
B5639:Idh1 UTSW 1 65165098 critical splice donor site probably null
R0310:Idh1 UTSW 1 65161920 missense probably damaging 1.00
R0865:Idh1 UTSW 1 65161156 missense probably benign
R1172:Idh1 UTSW 1 65161160 missense probably benign 0.00
R1173:Idh1 UTSW 1 65161160 missense probably benign 0.00
R1174:Idh1 UTSW 1 65161160 missense probably benign 0.00
R1535:Idh1 UTSW 1 65168538 missense probably damaging 1.00
R1833:Idh1 UTSW 1 65161114 missense probably benign
R2135:Idh1 UTSW 1 65161919 missense probably damaging 1.00
R5434:Idh1 UTSW 1 65175336 missense probably benign 0.00
R5478:Idh1 UTSW 1 65161838 missense probably benign 0.04
R5633:Idh1 UTSW 1 65165136 missense probably damaging 1.00
R6152:Idh1 UTSW 1 65159530 missense probably damaging 1.00
R6249:Idh1 UTSW 1 65166219 missense probably damaging 1.00
R6252:Idh1 UTSW 1 65168531 missense probably benign
R7238:Idh1 UTSW 1 65166125 missense probably damaging 1.00
R7754:Idh1 UTSW 1 65159490 missense probably benign 0.00
R7819:Idh1 UTSW 1 65165118 missense probably damaging 1.00
R8064:Idh1 UTSW 1 65166179 missense probably damaging 1.00
R8078:Idh1 UTSW 1 65161066 missense probably damaging 0.97
R8187:Idh1 UTSW 1 65159541 missense probably damaging 0.98
Posted On2012-12-06