Incidental Mutation 'IGL01534:Idh3a'
ID 89910
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: 0.968) question?
Stock # IGL01534
Quality Score
Status
Chromosome 9
Chromosomal Location 54493795-54511946 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 54508506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034822] [ENSMUST00000167866] [ENSMUST00000215273] [ENSMUST00000217484]
AlphaFold Q9D6R2
Predicted Effect probably benign
Transcript: ENSMUST00000034822
SMART Domains Protein: ENSMUSP00000034822
Gene: ENSMUSG00000032281

DomainStartEndE-ValueType
Pfam:AMP-binding 106 570 7.9e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167866
SMART Domains Protein: ENSMUSP00000127526
Gene: ENSMUSG00000032279

DomainStartEndE-ValueType
Iso_dh 33 358 1.37e-169 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214136
Predicted Effect probably benign
Transcript: ENSMUST00000215273
Predicted Effect probably benign
Transcript: ENSMUST00000217484
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,197,146 (GRCm39) L111P possibly damaging Het
Adck5 C A 15: 76,478,926 (GRCm39) H383Q probably damaging Het
Arb2a T A 13: 78,147,830 (GRCm39) probably benign Het
Asns T A 6: 7,675,397 (GRCm39) H535L probably benign Het
Atf5 A G 7: 44,462,462 (GRCm39) S221P probably damaging Het
Atr T C 9: 95,747,599 (GRCm39) Y294H probably damaging Het
B230307C23Rik A G 16: 97,809,961 (GRCm39) probably benign Het
C1qtnf6 C T 15: 78,409,416 (GRCm39) E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 (GRCm39) probably benign Het
Cd48 C A 1: 171,523,307 (GRCm39) P50Q possibly damaging Het
Cnnm4 T C 1: 36,538,596 (GRCm39) Y593H probably benign Het
Col27a1 G A 4: 63,144,019 (GRCm39) R569Q probably benign Het
Cubn A T 2: 13,470,744 (GRCm39) C549* probably null Het
Dsg1a T A 18: 20,474,053 (GRCm39) M1042K probably benign Het
Dzip1 T A 14: 119,114,651 (GRCm39) T835S probably damaging Het
Eif3c T C 7: 126,156,867 (GRCm39) T389A probably benign Het
Erlin2 G T 8: 27,521,985 (GRCm39) E177* probably null Het
Gabrb1 T A 5: 72,026,772 (GRCm39) S91T possibly damaging Het
Grik3 T C 4: 125,579,983 (GRCm39) V576A probably damaging Het
Gtpbp2 T A 17: 46,474,430 (GRCm39) Y70N probably damaging Het
Ift74 G A 4: 94,568,181 (GRCm39) R406H probably benign Het
Kcna7 C A 7: 45,055,935 (GRCm39) N50K probably damaging Het
Kcnd2 T C 6: 21,726,144 (GRCm39) S546P probably benign Het
Lrp4 G A 2: 91,303,986 (GRCm39) D134N probably damaging Het
Mcm2 A G 6: 88,864,700 (GRCm39) probably null Het
Nlrp12 T C 7: 3,288,463 (GRCm39) Y683C probably benign Het
Or14j3 A T 17: 37,900,963 (GRCm39) Y94N possibly damaging Het
Or2d4 T A 7: 106,543,546 (GRCm39) I221F probably damaging Het
Or8i2 A G 2: 86,852,228 (GRCm39) I220T probably damaging Het
Or9i1 A T 19: 13,839,283 (GRCm39) N42I probably damaging Het
Or9i14 T A 19: 13,792,666 (GRCm39) H96L probably benign Het
P2rx7 A C 5: 122,814,761 (GRCm39) I409L probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Rabggtb A G 3: 153,615,896 (GRCm39) probably null Het
Rgs4 A T 1: 169,572,085 (GRCm39) C71* probably null Het
Rnase10 T C 14: 51,245,436 (GRCm39) F5L probably benign Het
Scn11a T A 9: 119,609,888 (GRCm39) T987S probably benign Het
Shox2 A C 3: 66,885,696 (GRCm39) D126E probably benign Het
Slc12a1 A G 2: 125,059,830 (GRCm39) D910G probably damaging Het
Slc15a1 C T 14: 121,702,364 (GRCm39) C594Y possibly damaging Het
Spock2 C T 10: 59,962,883 (GRCm39) probably benign Het
Togaram1 G T 12: 65,013,321 (GRCm39) D191Y probably damaging Het
Triml2 T C 8: 43,640,660 (GRCm39) V172A probably benign Het
Tubb3 C T 8: 124,147,705 (GRCm39) R213C probably benign Het
Vmn2r4 A T 3: 64,313,844 (GRCm39) V379E probably damaging Het
Zfp446 C T 7: 12,713,493 (GRCm39) P153L probably damaging Het
Zfp608 A T 18: 55,032,004 (GRCm39) N645K probably damaging Het
Other mutations in Idh3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02547:Idh3a APN 9 54,499,679 (GRCm39) missense probably benign 0.00
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 2013-12-03