Incidental Mutation 'IGL01634:Ivd'
ID 93531
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 # IGL01634
Quality Score
Status
Chromosome 2
Chromosomal Location 118692475-118713388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118706863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 285 (R285H)
Ref Sequence ENSEMBL: ENSMUSP00000028807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028807]
AlphaFold Q9JHI5
Predicted Effect probably damaging
Transcript: ENSMUST00000028807
AA Change: R285H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332
AA Change: R285H

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A T 1: 191,633,016 (GRCm39) noncoding transcript Het
4933421I07Rik C T 7: 42,097,123 (GRCm39) D63N probably benign Het
Alg9 C A 9: 50,686,677 (GRCm39) probably null Het
Anln T C 9: 22,271,771 (GRCm39) T695A probably benign Het
Aox4 G T 1: 58,261,089 (GRCm39) D141Y possibly damaging Het
Arhgap21 C A 2: 20,919,455 (GRCm39) Q84H probably benign Het
Arnt G A 3: 95,377,709 (GRCm39) probably benign Het
Atp8a2 T A 14: 60,235,511 (GRCm39) Y677F probably benign Het
Car6 C T 4: 150,282,610 (GRCm39) V12M probably benign Het
Cd209d A T 8: 3,927,974 (GRCm39) probably null Het
Ctnna1 T A 18: 35,356,501 (GRCm39) V390E probably damaging Het
Cypt4 T A 9: 24,536,952 (GRCm39) N147K possibly damaging Het
Dnah10 C A 5: 124,898,405 (GRCm39) A3729E probably damaging Het
Dusp8 A G 7: 141,638,160 (GRCm39) V156A probably benign Het
Ecm1 G A 3: 95,642,211 (GRCm39) P458L probably damaging Het
Fat3 T G 9: 15,909,654 (GRCm39) Y2116S probably damaging Het
Fscn3 T A 6: 28,430,537 (GRCm39) Y236N probably damaging Het
Gaa G A 11: 119,164,902 (GRCm39) S265N possibly damaging Het
Gas7 T C 11: 67,565,057 (GRCm39) probably benign Het
Gbp8 T C 5: 105,166,438 (GRCm39) K297R probably damaging Het
Gm1818 G A 12: 48,602,992 (GRCm39) noncoding transcript Het
Gm5114 G T 7: 39,058,071 (GRCm39) T516K probably benign Het
Hectd1 A G 12: 51,850,562 (GRCm39) S165P probably damaging Het
Hoxb4 G T 11: 96,209,726 (GRCm39) R44L probably damaging Het
Krtap20-2 T C 16: 89,002,977 (GRCm39) F59S unknown Het
Megf8 G A 7: 25,058,206 (GRCm39) probably benign Het
Mgat4d A T 8: 84,094,745 (GRCm39) M261L possibly damaging Het
Mlc1 A T 15: 88,858,921 (GRCm39) probably benign Het
Mmp20 T A 9: 7,635,149 (GRCm39) Y43* probably null Het
Morc3 G A 16: 93,670,125 (GRCm39) V767I probably benign Het
Myo15a A G 11: 60,386,298 (GRCm39) T1808A probably damaging Het
Notch4 T C 17: 34,791,562 (GRCm39) F574L probably damaging Het
Npas3 G A 12: 53,993,946 (GRCm39) V164M probably damaging Het
Nptx1 A G 11: 119,435,498 (GRCm39) Y273H probably damaging Het
Oaf T C 9: 43,135,301 (GRCm39) N159S probably damaging Het
Or10a3n A T 7: 108,493,292 (GRCm39) F107L probably benign Het
Or4c111 T A 2: 88,843,788 (GRCm39) I207F probably damaging Het
Or5ak24 A T 2: 85,260,783 (GRCm39) L130H probably damaging Het
Pgm2 T C 5: 64,258,317 (GRCm39) F101L probably benign Het
Pkd1l3 A C 8: 110,394,157 (GRCm39) probably null Het
Plcd1 C T 9: 118,902,857 (GRCm39) R527H probably damaging Het
Rexo2 C T 9: 48,380,215 (GRCm39) E206K probably damaging Het
Ropn1 C A 16: 34,487,148 (GRCm39) T28N possibly damaging Het
Ropn1 A T 16: 34,487,141 (GRCm39) I26F probably damaging Het
Rpgrip1l C A 8: 91,979,171 (GRCm39) S998I probably benign Het
Rpgrip1l T A 8: 91,979,172 (GRCm39) S998C probably benign Het
Scap T C 9: 110,207,857 (GRCm39) probably null Het
Sec23b T C 2: 144,401,150 (GRCm39) Y4H probably damaging Het
Sfrp4 C A 13: 19,807,800 (GRCm39) D66E possibly damaging Het
Slc25a36 T C 9: 96,962,534 (GRCm39) T13A probably benign Het
Synpr A T 14: 13,608,576 (GRCm38) I119F possibly damaging Het
Tamm41 A C 6: 114,993,059 (GRCm39) H109Q probably benign Het
Tet1 A T 10: 62,714,367 (GRCm39) I476K possibly damaging Het
Tg A T 15: 66,601,415 (GRCm39) I142F probably benign Het
Thada A T 17: 84,700,786 (GRCm39) probably null Het
Triobp T C 15: 78,877,568 (GRCm39) L1654P probably damaging Het
Trpm7 A G 2: 126,668,738 (GRCm39) V726A probably damaging Het
Txndc15 T G 13: 55,869,438 (GRCm39) V197G probably damaging Het
Ubr3 A T 2: 69,803,916 (GRCm39) T1169S probably benign Het
Uhmk1 C T 1: 170,034,682 (GRCm39) probably null Het
Vmn2r16 T A 5: 109,488,177 (GRCm39) M350K probably benign Het
Vmn2r77 G A 7: 86,460,857 (GRCm39) V728I probably benign Het
Wipf1 G A 2: 73,278,225 (GRCm39) P7S unknown Het
Zswim3 A G 2: 164,661,922 (GRCm39) D134G 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
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 2013-12-09