Incidental Mutation 'IGL00841:Ivd'
ID 88911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ivd
Ensembl Gene ENSMUSG00000027332
Gene Name isovaleryl coenzyme A dehydrogenase
Synonyms 6720455E18Rik, 1300016K07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00841
Quality Score
Status
Chromosome 2
Chromosomal Location 118692475-118713388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118707383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 299 (V299A)
Ref Sequence ENSEMBL: ENSMUSP00000028807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028807]
AlphaFold Q9JHI5
Predicted Effect probably benign
Transcript: ENSMUST00000028807
AA Change: V299A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332
AA Change: V299A

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: ENSMUST00000125766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154104
Coding Region Coverage
Validation Efficiency
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1b T C 13: 96,554,338 (GRCm39) probably benign Het
Arl2 C A 19: 6,185,999 (GRCm39) probably benign Het
Atp8b4 A G 2: 126,225,689 (GRCm39) S514P probably damaging Het
Ces1a G T 8: 93,766,164 (GRCm39) S150* probably null Het
Ces1g T A 8: 94,029,615 (GRCm39) D539V possibly damaging Het
Col24a1 A G 3: 145,068,064 (GRCm39) D752G probably damaging Het
Ctsd A C 7: 141,936,418 (GRCm39) S128A probably damaging Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Dscam G A 16: 96,621,077 (GRCm39) L544F probably damaging Het
Fry T A 5: 150,346,189 (GRCm39) I1566N probably benign Het
Fut8 T A 12: 77,412,095 (GRCm39) H148Q probably benign Het
Ighv1-64 A T 12: 115,471,596 (GRCm39) M1K probably null Het
Kcnab3 A G 11: 69,222,129 (GRCm39) I292V probably benign Het
Mfhas1 T A 8: 36,058,040 (GRCm39) N838K probably damaging Het
Prom1 A T 5: 44,220,458 (GRCm39) probably benign Het
Ros1 T G 10: 52,020,969 (GRCm39) T648P possibly damaging Het
Scel A T 14: 103,767,431 (GRCm39) Q30L probably benign Het
Skp2 A C 15: 9,139,574 (GRCm39) S40R probably benign Het
Tm9sf1 T A 14: 55,880,184 (GRCm39) K71M probably damaging Het
Vegfb A G 19: 6,963,846 (GRCm39) W38R probably damaging Het
Xpo1 T G 11: 23,235,094 (GRCm39) F588V probably damaging Het
Zfp990 C A 4: 145,264,438 (GRCm39) L479M probably damaging Het
Other mutations in Ivd
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-03