Incidental Mutation 'R3877:Idh3a'
ID 276910
Institutional Source Beutler Lab
Gene Symbol Idh3a
Ensembl Gene ENSMUSG00000032279
Gene Name isocitrate dehydrogenase 3 (NAD+) alpha
Synonyms 1500012E04Rik
MMRRC Submission 040904-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R3877 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 54493795-54511946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54499679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 31 (V31A)
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: V31A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127526
Gene: ENSMUSG00000032279
AA Change: V31A

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: V49A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0651 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 G A 8: 41,249,671 (GRCm39) V594I possibly damaging Het
Adgb A T 10: 10,318,227 (GRCm39) probably null Het
Adgrb3 A C 1: 25,150,906 (GRCm39) L1109R probably damaging Het
Angptl4 G A 17: 33,996,008 (GRCm39) P323S possibly damaging Het
Arhgap21 A T 2: 20,864,717 (GRCm39) M1197K probably damaging Het
Arhgef40 A G 14: 52,239,742 (GRCm39) T1319A probably damaging Het
C4bp A G 1: 130,575,764 (GRCm39) probably null Het
Cd200r1 T C 16: 44,610,374 (GRCm39) S161P possibly damaging Het
Ckap5 A G 2: 91,445,495 (GRCm39) K1711E possibly damaging Het
Cldn19 T C 4: 119,114,094 (GRCm39) S79P possibly damaging Het
Cplane1 T C 15: 8,251,427 (GRCm39) S1900P probably benign Het
Dnah17 T G 11: 117,915,533 (GRCm39) N4334T probably damaging Het
Dpm2 G A 2: 32,462,412 (GRCm39) probably null Het
Eef1a2 A T 2: 180,794,626 (GRCm39) V191E probably damaging Het
Gmds G A 13: 32,411,248 (GRCm39) T62I probably damaging Het
Hyal5 A T 6: 24,876,630 (GRCm39) I168F probably damaging Het
Inf2 C A 12: 112,577,264 (GRCm39) A1036E unknown Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kidins220 T A 12: 25,051,564 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrp1b A G 2: 41,335,206 (GRCm39) C779R probably damaging Het
Lrp2 A G 2: 69,289,816 (GRCm39) probably null Het
Lrp2 G A 2: 69,379,391 (GRCm39) T107M probably damaging Het
Lrpap1 T C 5: 35,255,547 (GRCm39) E184G probably benign Het
Mapre1 C T 2: 153,588,201 (GRCm39) T8M possibly damaging Het
Mms19 G A 19: 41,954,695 (GRCm39) Q75* probably null Het
Mtcl1 T C 17: 66,649,949 (GRCm39) I1390V probably damaging Het
Muc5b A G 7: 141,411,289 (GRCm39) S1412G unknown Het
Myh4 A T 11: 67,148,009 (GRCm39) Q1686L probably benign Het
Or1e25 A T 11: 73,493,979 (GRCm39) D191V probably damaging Het
Or9s13 A T 1: 92,547,805 (GRCm39) D59V probably damaging Het
Rcvrn A T 11: 67,590,802 (GRCm39) I129F probably damaging Het
Reg3b T A 6: 78,348,216 (GRCm39) M10K possibly damaging Het
Rimbp2 T A 5: 128,850,529 (GRCm39) E918V probably damaging Het
Rpl5 A G 5: 108,051,667 (GRCm39) T154A probably benign Het
Sall4 A C 2: 168,598,162 (GRCm39) L195R probably damaging Het
Sh3gl2 T C 4: 85,297,618 (GRCm39) S199P possibly damaging Het
Shank1 G T 7: 43,994,416 (GRCm39) R859L unknown Het
Thsd7b A G 1: 130,117,919 (GRCm39) E1445G possibly damaging Het
Tnfaip6 A G 2: 51,942,339 (GRCm39) E216G probably benign Het
Tram1 T C 1: 13,639,827 (GRCm39) T307A probably benign Het
Trpv5 A G 6: 41,637,277 (GRCm39) V354A probably benign Het
Tyro3 A G 2: 119,643,774 (GRCm39) E745G probably damaging Het
Vmn1r68 A T 7: 10,261,408 (GRCm39) I230N probably damaging Het
Vmn2r28 A T 7: 5,491,357 (GRCm39) W297R probably damaging Het
Vrk3 A T 7: 44,412,460 (GRCm39) probably null Het
Zfhx4 T C 3: 5,465,845 (GRCm39) V2001A probably benign Het
Zfp512b AG AGG 2: 181,230,556 (GRCm39) probably null Het
Other mutations in Idh3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Idh3a APN 9 54,508,506 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ATGGAGTTGGATTCTGCCTC -3'
(R):5'- TGCAGTTATTCATTTCTGTGCATAC -3'

Sequencing Primer
(F):5'- CTGCCTCTGTCAAGATCAAAGTGAG -3'
(R):5'- CTCAGATCATTATGCTGGGCAAG -3'
Posted On 2015-04-06