Incidental Mutation 'IGL00841:Ivd'
ID88911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ivd
Ensembl Gene ENSMUSG00000027332
Gene Nameisovaleryl coenzyme A dehydrogenase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00841
Quality Score
Status
Chromosome2
Chromosomal Location118861954-118882909 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118876902 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 299 (V299A)
Ref Sequence ENSEMBL: ENSMUSP00000028807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028807]
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: 96,417,830 probably benign Het
Arl2 C A 19: 6,135,969 probably benign Het
Atp8b4 A G 2: 126,383,769 S514P probably damaging Het
Ces1a G T 8: 93,039,536 S150* probably null Het
Ces1g T A 8: 93,302,987 D539V possibly damaging Het
Col24a1 A G 3: 145,362,309 D752G probably damaging Het
Ctsd A C 7: 142,382,681 S128A probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dscam G A 16: 96,819,877 L544F probably damaging Het
Fry T A 5: 150,422,724 I1566N probably benign Het
Fut8 T A 12: 77,365,321 H148Q probably benign Het
Ighv1-64 A T 12: 115,507,976 M1K probably null Het
Kcnab3 A G 11: 69,331,303 I292V probably benign Het
Mfhas1 T A 8: 35,590,886 N838K probably damaging Het
Prom1 A T 5: 44,063,116 probably benign Het
Ros1 T G 10: 52,144,873 T648P possibly damaging Het
Scel A T 14: 103,529,995 Q30L probably benign Het
Skp2 A C 15: 9,139,487 S40R probably benign Het
Tm9sf1 T A 14: 55,642,727 K71M probably damaging Het
Vegfb A G 19: 6,986,478 W38R probably damaging Het
Xpo1 T G 11: 23,285,094 F588V probably damaging Het
Zfp990 C A 4: 145,537,868 L479M probably damaging Het
Other mutations in Ivd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Ivd APN 2 118876880 splice site probably benign
IGL01634:Ivd APN 2 118876382 missense probably damaging 1.00
IGL02178:Ivd APN 2 118871434 missense probably benign 0.00
IGL02478:Ivd APN 2 118862091 missense probably benign 0.21
IGL03104:Ivd APN 2 118872903 missense probably benign 0.01
R1335:Ivd UTSW 2 118869442 missense probably benign 0.00
R1823:Ivd UTSW 2 118862034 missense probably benign 0.05
R2008:Ivd UTSW 2 118871500 missense probably benign 0.00
R3162:Ivd UTSW 2 118862169 critical splice donor site probably null
R3162:Ivd UTSW 2 118862169 critical splice donor site probably null
R5011:Ivd UTSW 2 118880465 missense probably damaging 1.00
R5013:Ivd UTSW 2 118880465 missense probably damaging 1.00
R5946:Ivd UTSW 2 118876889 missense possibly damaging 0.49
R6810:Ivd UTSW 2 118869761 missense probably benign
R7055:Ivd UTSW 2 118873249 missense probably damaging 0.99
R7131:Ivd UTSW 2 118869774 missense probably damaging 1.00
R7173:Ivd UTSW 2 118871389 missense probably damaging 1.00
R7302:Ivd UTSW 2 118871504 missense probably benign 0.04
R7490:Ivd UTSW 2 118876892 missense possibly damaging 0.94
R7583:Ivd UTSW 2 118862131 missense probably damaging 0.96
R8243:Ivd UTSW 2 118871537 missense probably damaging 1.00
R8362:Ivd UTSW 2 118877941 missense probably damaging 1.00
Z1176:Ivd UTSW 2 118876344 missense possibly damaging 0.94
Posted On2013-12-03