Incidental Mutation 'R8491:Idh3a'
ID 658001
Institutional Source Beutler Lab
Gene Symbol Idh3a
Ensembl Gene ENSMUSG00000032279
Gene Name isocitrate dehydrogenase 3 (NAD+) alpha
Synonyms 1500012E04Rik
MMRRC Submission 067933-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R8491 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 54493795-54511946 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 54506963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167866] [ENSMUST00000215273] [ENSMUST00000217484]
AlphaFold Q9D6R2
Predicted Effect probably null
Transcript: ENSMUST00000167866
SMART Domains Protein: ENSMUSP00000127526
Gene: ENSMUSG00000032279

DomainStartEndE-ValueType
Iso_dh 33 358 1.37e-169 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000215273
Predicted Effect probably null
Transcript: ENSMUST00000217484
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aard A T 15: 51,903,708 (GRCm39) I44F unknown Het
Agap1 A G 1: 89,537,294 (GRCm39) E100G probably damaging Het
Aoc3 G T 11: 101,223,042 (GRCm39) R426L probably benign Het
Aspm T G 1: 139,385,433 (GRCm39) L359R probably damaging Het
Atp8b2 A G 3: 89,865,676 (GRCm39) S75P probably damaging Het
Bcl9l A G 9: 44,412,065 (GRCm39) E17G probably benign Het
Casc3 G T 11: 98,713,977 (GRCm39) R403L probably benign Het
Cdh16 T C 8: 105,343,681 (GRCm39) D605G probably damaging Het
Cdh2 A G 18: 16,757,775 (GRCm39) probably null Het
Cers5 T A 15: 99,638,831 (GRCm39) K161N probably damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cntnap3 A T 13: 64,933,157 (GRCm39) D454E probably damaging Het
Cxcl15 T A 5: 90,943,089 (GRCm39) C30* probably null Het
Cyp4a12a C A 4: 115,158,650 (GRCm39) probably null Het
Dlc1 A T 8: 37,052,000 (GRCm39) I577N probably benign Het
Dusp6 C A 10: 99,102,081 (GRCm39) R210S possibly damaging Het
Faxc T A 4: 21,993,319 (GRCm39) M321K probably damaging Het
Fez2 C A 17: 78,692,200 (GRCm39) V340L probably benign Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gdnf A G 15: 7,864,272 (GRCm39) I228V possibly damaging Het
Gm12258 A G 11: 58,745,122 (GRCm39) T18A Het
Gm5460 T C 14: 33,761,740 (GRCm39) L194P probably damaging Het
Gm6040 T G 8: 21,407,135 (GRCm39) R28S possibly damaging Het
Gmps A G 3: 63,921,779 (GRCm39) E594G probably benign Het
Hspg2 T C 4: 137,281,030 (GRCm39) V3334A probably benign Het
Ins1 A G 19: 52,252,808 (GRCm39) probably benign Het
Mug1 A T 6: 121,859,688 (GRCm39) D1229V probably damaging Het
Ndufs1 T C 1: 63,196,384 (GRCm39) D347G probably damaging Het
Or52d3 G A 7: 104,229,242 (GRCm39) V130I probably damaging Het
Or8k25 A G 2: 86,244,099 (GRCm39) I99T probably benign Het
Pclo C A 5: 14,565,244 (GRCm39) N3K unknown Het
Pigl A G 11: 62,364,293 (GRCm39) R112G probably null Het
Prkcq T C 2: 11,284,335 (GRCm39) Y502H probably damaging Het
Psg16 T C 7: 16,824,437 (GRCm39) Y74H probably damaging Het
Psme4 G A 11: 30,722,161 (GRCm39) G60D possibly damaging Het
Rpp14 A T 14: 8,083,925 (GRCm38) Q27L possibly damaging Het
Serpini2 A C 3: 75,159,822 (GRCm39) C315G probably damaging Het
Slitrk3 A G 3: 72,958,592 (GRCm39) I60T possibly damaging Het
Svil T C 18: 5,106,678 (GRCm39) Y1436H probably damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Tob1 A G 11: 94,105,115 (GRCm39) D217G probably benign Het
Trim21 A C 7: 102,208,689 (GRCm39) D343E probably benign Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Trmt13 T C 3: 116,376,228 (GRCm39) R388G probably benign Het
Ubqlnl A G 7: 103,798,582 (GRCm39) V305A probably benign Het
Ushbp1 A G 8: 71,845,041 (GRCm39) V244A probably benign Het
Vdac2 T A 14: 21,887,838 (GRCm39) N60K possibly damaging Het
Vwa5a A G 9: 38,652,476 (GRCm39) E753G probably damaging Het
Washc4 A G 10: 83,411,987 (GRCm39) D706G probably benign Het
Zbtb5 T C 4: 44,995,090 (GRCm39) D98G probably damaging Het
Zfp53 A G 17: 21,729,621 (GRCm39) I551M probably benign Het
Zfp958 G T 8: 4,676,215 (GRCm39) R61I probably damaging 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
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
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'- TGAGGCAGAGTCTTAACTGTG -3'
(R):5'- TACAGATATGGGCAGAGCGC -3'

Sequencing Primer
(F):5'- ACAGTAGCTGTTCCAGGTCATC -3'
(R):5'- TCCATGAAGAGAGCTCCTTCCTAGAG -3'
Posted On 2021-01-18