Incidental Mutation 'IGL02547:Idh3a'
ID 297877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Idh3a
Ensembl Gene ENSMUSG00000032279
Gene Name isocitrate dehydrogenase 3 (NAD+) alpha
Synonyms 1500012E04Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # IGL02547
Quality Score
Status
Chromosome 9
Chromosomal Location 54493795-54511946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54499679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 31 (V31D)
Ref Sequence ENSEMBL: ENSMUSP00000127526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167866] [ENSMUST00000215273] [ENSMUST00000217484]
AlphaFold Q9D6R2
Predicted Effect probably benign
Transcript: ENSMUST00000167866
AA Change: V31D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000127526
Gene: ENSMUSG00000032279
AA Change: V31D

DomainStartEndE-ValueType
Iso_dh 33 358 1.37e-169 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214136
Predicted Effect probably benign
Transcript: ENSMUST00000215273
Predicted Effect probably benign
Transcript: ENSMUST00000217484
AA Change: V49D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive retinal degeneration and decreased visual acuity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,479 (GRCm39) L1631H probably damaging Het
Atf7ip T A 6: 136,580,274 (GRCm39) probably benign Het
Atp5po A T 16: 91,725,849 (GRCm39) Y48N probably damaging Het
Birc6 T G 17: 74,886,640 (GRCm39) M656R probably benign Het
Camkk1 A G 11: 72,929,259 (GRCm39) R455G probably benign Het
Casr A T 16: 36,336,036 (GRCm39) M91K probably benign Het
Ccdc28a A T 10: 18,089,894 (GRCm39) V124D possibly damaging Het
Ccnh T C 13: 85,350,623 (GRCm39) probably benign Het
Cdc37 G T 9: 21,051,262 (GRCm39) probably benign Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cstdc3 A T 16: 36,132,888 (GRCm39) probably benign Het
Cyp4f15 A G 17: 32,919,229 (GRCm39) R351G probably benign Het
Dclk3 T C 9: 111,298,091 (GRCm39) I545T probably damaging Het
Dock4 A G 12: 40,787,478 (GRCm39) M798V probably benign Het
Gas7 A T 11: 67,556,261 (GRCm39) Q200L probably damaging Het
Ica1 T C 6: 8,670,691 (GRCm39) probably null Het
Il3ra A T 14: 14,351,970 (GRCm38) T247S probably benign Het
Itgb7 A G 15: 102,126,945 (GRCm39) C497R probably damaging Het
Itm2c T C 1: 85,834,182 (GRCm39) Y166H probably damaging Het
Mphosph8 A G 14: 56,909,941 (GRCm39) D98G probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Muc15 A G 2: 110,561,650 (GRCm39) R29G probably damaging Het
Neb T A 2: 52,078,742 (GRCm39) T142S probably damaging Het
Nipbl G A 15: 8,381,082 (GRCm39) T570I probably benign Het
Nr5a2 T A 1: 136,868,665 (GRCm39) M196L probably benign Het
Nrp1 C A 8: 129,219,512 (GRCm39) F643L probably benign Het
Or52ad1 A G 7: 102,995,451 (GRCm39) F228S probably damaging Het
Or52z15 T C 7: 103,331,973 (GRCm39) I16T probably benign Het
Or5a3 A T 19: 12,399,675 (GRCm39) M1L probably benign Het
Or8h8 A G 2: 86,753,372 (GRCm39) F168S probably damaging Het
Osbpl9 C T 4: 108,925,680 (GRCm39) W446* probably null Het
Pced1a T C 2: 130,261,627 (GRCm39) D342G possibly damaging Het
Pira13 T C 7: 3,824,660 (GRCm39) D573G probably damaging Het
Prkcd C A 14: 30,321,426 (GRCm39) W555L probably damaging Het
Prpf31 T C 7: 3,633,898 (GRCm39) S78P probably benign Het
Psg27 T C 7: 18,294,553 (GRCm39) T285A probably benign Het
Retreg3 A T 11: 100,997,204 (GRCm39) L92* probably null Het
Rmdn1 A G 4: 19,605,501 (GRCm39) K282E possibly damaging Het
Septin8 G T 11: 53,428,092 (GRCm39) R302L probably damaging Het
Serpina3a A G 12: 104,082,802 (GRCm39) I192V probably damaging Het
Sgce T C 6: 4,711,301 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,936,116 (GRCm39) L323Q probably damaging Het
Spats1 A T 17: 45,785,743 (GRCm39) probably benign Het
Tcerg1l C T 7: 137,850,100 (GRCm39) probably null Het
Ttn A G 2: 76,559,730 (GRCm39) V21230A probably damaging Het
Ubxn11 A C 4: 133,836,895 (GRCm39) D41A possibly damaging Het
Vps13c T G 9: 67,815,301 (GRCm39) I979S possibly damaging Het
Zc3h6 T A 2: 128,857,531 (GRCm39) H683Q probably benign Het
Zfp1007 C T 5: 109,826,628 (GRCm39) probably null Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp629 T C 7: 127,210,846 (GRCm39) probably null Het
Other mutations in Idh3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Idh3a APN 9 54,508,506 (GRCm39) splice site probably benign
IGL02593:Idh3a APN 9 54,503,477 (GRCm39) splice site probably benign
IGL03408:Idh3a APN 9 54,504,206 (GRCm39) missense probably benign 0.00
ANU23:Idh3a UTSW 9 54,493,829 (GRCm39) critical splice donor site probably null
R2496:Idh3a UTSW 9 54,510,633 (GRCm39) missense probably benign 0.20
R3709:Idh3a UTSW 9 54,493,810 (GRCm39) missense possibly damaging 0.83
R3877:Idh3a UTSW 9 54,499,679 (GRCm39) missense probably benign 0.00
R4962:Idh3a UTSW 9 54,503,325 (GRCm39) missense possibly damaging 0.86
R6054:Idh3a UTSW 9 54,493,829 (GRCm39) critical splice donor site probably null
R7246:Idh3a UTSW 9 54,499,756 (GRCm39) missense probably damaging 1.00
R7426:Idh3a UTSW 9 54,508,492 (GRCm39) missense probably benign
R7450:Idh3a UTSW 9 54,503,367 (GRCm39) missense probably damaging 1.00
R7678:Idh3a UTSW 9 54,502,453 (GRCm39) missense probably damaging 1.00
R8491:Idh3a UTSW 9 54,506,963 (GRCm39) critical splice donor site probably null
R9121:Idh3a UTSW 9 54,493,829 (GRCm39) critical splice donor site probably null
R9654:Idh3a UTSW 9 54,497,182 (GRCm39) missense probably benign
Z1177:Idh3a UTSW 9 54,503,433 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16