Incidental Mutation 'R8799:Idh1'
ID 671416
Institutional Source Beutler Lab
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 # R8799 (G1)
Quality Score 217.468
Status Validated
Chromosome 1
Chromosomal Location 65197775-65225638 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CA to CAA at 65204347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097709] [ENSMUST00000149310] [ENSMUST00000169032] [ENSMUST00000188109] [ENSMUST00000188876]
AlphaFold O88844
PDB Structure CRYSTAL STRUCTURE OF MOUSE CYTOSOLIC ISOCITRATE DEHYDROGENASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MOUSE CYTOSOLIC ISOCITRATE DEHYDROGENASE COMPLEXED WITH CADMIUM AND CITRATE [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000097709
SMART Domains Protein: ENSMUSP00000095316
Gene: ENSMUSG00000025950

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 null
Transcript: ENSMUST00000169032
SMART Domains Protein: ENSMUSP00000127307
Gene: ENSMUSG00000025950

DomainStartEndE-ValueType
Iso_dh 9 401 1.05e-133 SMART
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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T A 11: 83,331,578 (GRCm39) C134S probably damaging Het
Acox3 T G 5: 35,747,052 (GRCm39) F156L probably damaging Het
Adprhl1 T C 8: 13,272,474 (GRCm39) E1428G probably benign Het
Arhgap40 A T 2: 158,354,758 (GRCm39) M15L probably benign Het
Bahcc1 C A 11: 120,177,173 (GRCm39) F2020L probably damaging Het
BC024063 A T 10: 81,945,352 (GRCm39) H324L probably benign Het
Ccdc40 C A 11: 119,155,292 (GRCm39) S1177R probably benign Het
Ccne2 A T 4: 11,201,355 (GRCm39) R294S probably benign Het
Cib1 A C 7: 79,882,291 (GRCm39) S6R probably damaging Het
Csnk2a1 A G 2: 152,099,886 (GRCm39) E114G probably damaging Het
Cxxc1 A G 18: 74,354,128 (GRCm39) probably benign Het
Decr2 A C 17: 26,307,911 (GRCm39) I47M possibly damaging Het
Dmxl2 A G 9: 54,327,027 (GRCm39) probably null Het
Dse G A 10: 34,060,149 (GRCm39) probably benign Het
Eml6 A G 11: 29,708,981 (GRCm39) V1480A probably benign Het
Erap1 A G 13: 74,805,755 (GRCm39) I165M probably benign Het
Fan1 G T 7: 64,016,406 (GRCm39) Q573K probably damaging Het
Fndc3a G A 14: 72,793,955 (GRCm39) T906I probably benign Het
Gm21915 A C 9: 40,582,006 (GRCm39) H33P possibly damaging Het
Lama3 G T 18: 12,624,000 (GRCm39) Q1384H probably damaging Het
Lrrc34 C T 3: 30,678,979 (GRCm39) E373K probably benign Het
Ly75 A G 2: 60,178,785 (GRCm39) F677L probably damaging Het
Megf11 A G 9: 64,588,673 (GRCm39) D493G probably benign Het
Mta3 A T 17: 84,096,369 (GRCm39) I348F possibly damaging Het
Myo1d A T 11: 80,575,205 (GRCm39) F170L probably damaging Het
Nfkbia A G 12: 55,539,083 (GRCm39) probably benign Het
Nfx1 A T 4: 41,023,727 (GRCm39) E1045D probably damaging Het
Npffr2 T G 5: 89,731,177 (GRCm39) V369G probably benign Het
Or14c44 T C 7: 86,061,854 (GRCm39) C95R probably damaging Het
Or4d5 A T 9: 40,011,985 (GRCm39) M267K possibly damaging Het
Or4f59 A T 2: 111,872,528 (GRCm39) I283N probably damaging Het
Or5t18 A T 2: 86,636,575 (GRCm39) M256K probably damaging Het
Or5w13 G T 2: 87,524,057 (GRCm39) H56Q possibly damaging Het
Otoa G A 7: 120,691,894 (GRCm39) E41K possibly damaging Het
Podxl A G 6: 31,501,400 (GRCm39) V385A probably damaging Het
Ppp4r4 C T 12: 103,567,623 (GRCm39) T673M possibly damaging Het
Rbm20 G T 19: 53,821,120 (GRCm39) C525F probably damaging Het
Rnf17 A T 14: 56,737,886 (GRCm39) E1222D probably damaging Het
Ros1 G A 10: 51,922,143 (GRCm39) A2331V probably benign Het
Rrs1 T A 1: 9,615,819 (GRCm39) I24N probably damaging Het
Sec11a A G 7: 80,584,850 (GRCm39) V29A possibly damaging Het
Shisa3 T A 5: 67,768,749 (GRCm39) Y216* probably null Het
Slc22a2 A T 17: 12,831,425 (GRCm39) Y405F probably benign Het
Slc2a12 A T 10: 22,568,105 (GRCm39) M511L possibly damaging Het
Slc38a9 T A 13: 112,840,136 (GRCm39) H338Q probably damaging Het
Slco1c1 T G 6: 141,505,531 (GRCm39) S486A probably benign Het
Slit2 T C 5: 48,461,524 (GRCm39) S1524P possibly damaging Het
Spata31d1c T C 13: 65,184,140 (GRCm39) S561P possibly damaging Het
Stac3 T A 10: 127,340,781 (GRCm39) M182K probably damaging Het
Stt3b T C 9: 115,077,685 (GRCm39) E689G probably damaging Het
Suclg1 A G 6: 73,248,091 (GRCm39) K271E probably benign Het
Tas1r1 A G 4: 152,116,708 (GRCm39) Y309H probably benign Het
Tbc1d5 TGC TGCCGC 17: 51,106,969 (GRCm39) probably benign Het
Tbc1d5 TG TGCGG 17: 51,106,978 (GRCm39) probably benign Het
Tbc1d5 TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 17: 51,106,962 (GRCm39) probably benign Het
Tbc1d5 TGC TGCGGC 17: 51,106,963 (GRCm39) probably benign Het
Tmem101 A G 11: 102,044,336 (GRCm39) F184L probably benign Het
Zfp474 A G 18: 52,772,166 (GRCm39) Q273R probably benign Het
Zfyve28 A G 5: 34,390,670 (GRCm39) L197P probably damaging Het
Other mutations in Idh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Idh1 APN 1 65,205,402 (GRCm39) missense probably damaging 1.00
IGL00790:Idh1 APN 1 65,205,281 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- AGAGCCCTTTGTGGAATATCCTC -3'
(R):5'- GCCACTTTGAGGGTCTAGGATAG -3'

Sequencing Primer
(F):5'- TGTGGAATATCCTCGCTGCCAG -3'
(R):5'- AGGAATCTAAGCATTTGTCTGTCCC -3'
Posted On 2021-04-30