Incidental Mutation 'R3162:Ivd'
ID 349827
Institutional Source Beutler Lab
Gene Symbol Ivd
Ensembl Gene ENSMUSG00000027332
Gene Name isovaleryl coenzyme A dehydrogenase
Synonyms 6720455E18Rik, 1300016K07Rik
MMRRC Submission 040613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3162 (G1)
Quality Score 209
Status Validated
Chromosome 2
Chromosomal Location 118692475-118713388 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 118692650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028807]
AlphaFold Q9JHI5
Predicted Effect probably null
Transcript: ENSMUST00000028807
SMART Domains Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 44 158 9.4e-40 PFAM
Pfam:Acyl-CoA_dh_M 162 259 8.1e-31 PFAM
Pfam:Acyl-CoA_dh_1 271 419 2e-42 PFAM
Pfam:Acyl-CoA_dh_2 286 409 6.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126082
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,134 (GRCm39) E102V probably damaging Het
9930014A18Rik A T 15: 60,695,296 (GRCm39) V150E probably damaging Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
AW551984 C A 9: 39,504,325 (GRCm39) R547L probably damaging Het
B3galt6 A G 4: 156,076,464 (GRCm39) Y204H probably benign Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Ddb1 T C 19: 10,603,335 (GRCm39) L881P probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Dhrs3 A G 4: 144,646,016 (GRCm39) D108G possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dusp6 T C 10: 99,099,944 (GRCm39) Y131H probably damaging Het
Eif2b2 A T 12: 85,266,435 (GRCm39) M34L probably benign Het
Errfi1 G A 4: 150,951,816 (GRCm39) E415K probably damaging Het
Ext1 T C 15: 53,208,000 (GRCm39) N254D possibly damaging Het
Gm13141 GGTTTCTTGATGCC G 4: 147,612,561 (GRCm39) noncoding transcript Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Hpx C T 7: 105,248,847 (GRCm39) probably benign Het
Hyal3 T A 9: 107,464,005 (GRCm39) C407S probably damaging Het
Insr T G 8: 3,211,416 (GRCm39) N1141T possibly damaging Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Leprot C T 4: 101,515,090 (GRCm39) T89I probably damaging Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Nusap1 A T 2: 119,460,885 (GRCm39) Q126L possibly damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or5al1 T C 2: 85,990,439 (GRCm39) I92V probably benign Het
Or6x1 G T 9: 40,098,901 (GRCm39) Q163H probably benign Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pdik1l A G 4: 134,011,561 (GRCm39) L94S probably damaging Het
Pkdrej T A 15: 85,700,818 (GRCm39) D1706V probably damaging Het
Pkhd1l1 A G 15: 44,368,924 (GRCm39) I856M probably damaging Het
Prkcz A T 4: 155,374,981 (GRCm39) D114E probably benign Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Ptprk T C 10: 28,468,822 (GRCm39) V1402A probably benign Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Rlf A G 4: 121,006,044 (GRCm39) S979P probably damaging Het
Skic2 C T 17: 35,066,789 (GRCm39) W88* probably null Het
Skic8 T A 9: 54,631,473 (GRCm39) probably benign Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Taok2 A G 7: 126,474,347 (GRCm39) I294T possibly damaging Het
Tert A G 13: 73,775,528 (GRCm39) E93G possibly damaging Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Ttc22 A T 4: 106,480,276 (GRCm39) I177F probably damaging Het
Vmn2r86 T C 10: 130,291,673 (GRCm39) R31G probably damaging Het
Wnt5a T C 14: 28,244,445 (GRCm39) Y231H probably benign Het
Zw10 T C 9: 48,988,860 (GRCm39) Y709H probably damaging Het
Other mutations in Ivd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Ivd APN 2 118,707,383 (GRCm39) missense probably benign 0.06
IGL01122:Ivd APN 2 118,707,361 (GRCm39) splice site probably benign
IGL01634:Ivd APN 2 118,706,863 (GRCm39) missense probably damaging 1.00
IGL02178:Ivd APN 2 118,701,915 (GRCm39) missense probably benign 0.00
IGL02478:Ivd APN 2 118,692,572 (GRCm39) missense probably benign 0.21
IGL03104:Ivd APN 2 118,703,384 (GRCm39) missense probably benign 0.01
R1335:Ivd UTSW 2 118,699,923 (GRCm39) missense probably benign 0.00
R1823:Ivd UTSW 2 118,692,515 (GRCm39) missense probably benign 0.05
R2008:Ivd UTSW 2 118,701,981 (GRCm39) missense probably benign 0.00
R3162:Ivd UTSW 2 118,692,650 (GRCm39) critical splice donor site probably null
R5011:Ivd UTSW 2 118,710,946 (GRCm39) missense probably damaging 1.00
R5013:Ivd UTSW 2 118,710,946 (GRCm39) missense probably damaging 1.00
R5946:Ivd UTSW 2 118,707,370 (GRCm39) missense possibly damaging 0.49
R6810:Ivd UTSW 2 118,700,242 (GRCm39) missense probably benign
R7055:Ivd UTSW 2 118,703,730 (GRCm39) missense probably damaging 0.99
R7131:Ivd UTSW 2 118,700,255 (GRCm39) missense probably damaging 1.00
R7173:Ivd UTSW 2 118,701,870 (GRCm39) missense probably damaging 1.00
R7302:Ivd UTSW 2 118,701,985 (GRCm39) missense probably benign 0.04
R7490:Ivd UTSW 2 118,707,373 (GRCm39) missense possibly damaging 0.94
R7583:Ivd UTSW 2 118,692,612 (GRCm39) missense probably damaging 0.96
R8243:Ivd UTSW 2 118,702,018 (GRCm39) missense probably damaging 1.00
R8362:Ivd UTSW 2 118,708,422 (GRCm39) missense probably damaging 1.00
R9188:Ivd UTSW 2 118,710,942 (GRCm39) missense probably damaging 1.00
R9428:Ivd UTSW 2 118,708,369 (GRCm39) missense probably damaging 0.97
R9785:Ivd UTSW 2 118,710,970 (GRCm39) missense probably damaging 1.00
Z1176:Ivd UTSW 2 118,706,825 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CCCTCCCTGATTGGACAAAG -3'
(R):5'- TAGCTGGAGTTCAAAGCCAG -3'

Sequencing Primer
(F):5'- CCTCCCTGATTGGACAAAGTGTTG -3'
(R):5'- CTGGAGTTCAAAGCCAGGAATCC -3'
Posted On 2015-10-08