Incidental Mutation 'IGL02478:Ivd'
ID 295049
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 # IGL02478
Quality Score
Status
Chromosome 2
Chromosomal Location 118692475-118713388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118692572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 24 (L24P)
Ref Sequence ENSEMBL: ENSMUSP00000028807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028807]
AlphaFold Q9JHI5
Predicted Effect probably benign
Transcript: ENSMUST00000028807
AA Change: L24P

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332
AA Change: L24P

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,856,018 (GRCm39) A42E probably damaging Het
Agmo T A 12: 37,451,985 (GRCm39) F247L probably damaging Het
Arap1 C A 7: 101,049,332 (GRCm39) probably null Het
Arid1a T C 4: 133,408,585 (GRCm39) D1974G unknown Het
Asxl3 C T 18: 22,656,070 (GRCm39) A1360V possibly damaging Het
Celsr1 T A 15: 85,825,337 (GRCm39) T1599S possibly damaging Het
Chrdl2 T C 7: 99,670,190 (GRCm39) probably null Het
Csmd3 T C 15: 47,701,794 (GRCm39) probably benign Het
Dis3l C T 9: 64,222,055 (GRCm39) E452K probably benign Het
Dnajc2 A T 5: 21,981,788 (GRCm39) H45Q probably damaging Het
Eps8 G A 6: 137,499,840 (GRCm39) P213L probably benign Het
Erbb3 T A 10: 128,407,227 (GRCm39) R978* probably null Het
Exoc2 A T 13: 31,111,403 (GRCm39) C142S probably benign Het
Fam184b T C 5: 45,695,039 (GRCm39) E735G probably damaging Het
Fancm T C 12: 65,123,864 (GRCm39) V174A probably damaging Het
Fat4 T C 3: 38,942,364 (GRCm39) L419P probably damaging Het
Fsip2 G T 2: 82,814,736 (GRCm39) V3490L probably benign Het
Ftcd A T 10: 76,417,255 (GRCm39) R255* probably null Het
Galc T C 12: 98,179,391 (GRCm39) N506S possibly damaging Het
Gm20441 G T 10: 75,608,644 (GRCm39) A26E probably damaging Het
Gm21969 T G 4: 139,367,999 (GRCm39) probably null Het
Ifitm3 T A 7: 140,589,787 (GRCm39) M89L possibly damaging Het
Ift25 T A 4: 107,132,449 (GRCm39) S79T probably benign Het
Inmt T C 6: 55,150,355 (GRCm39) E94G probably damaging Het
Insrr G A 3: 87,716,719 (GRCm39) G649D probably benign Het
Kcnc1 A G 7: 46,084,593 (GRCm39) N506D probably benign Het
Krt39 T A 11: 99,411,723 (GRCm39) D121V probably benign Het
Lcp1 A G 14: 75,461,536 (GRCm39) I510V probably benign Het
Mkx C T 18: 7,002,418 (GRCm39) V43M probably damaging Het
Mmp2 A G 8: 93,579,235 (GRCm39) N108S possibly damaging Het
Mob1b T C 5: 88,903,947 (GRCm39) probably benign Het
Morc3 A G 16: 93,661,844 (GRCm39) probably benign Het
Myh13 T G 11: 67,260,204 (GRCm39) S1881A probably benign Het
Nalcn T C 14: 123,558,717 (GRCm39) E843G probably benign Het
Ngef A G 1: 87,408,301 (GRCm39) probably benign Het
Or14c40 T A 7: 86,313,344 (GRCm39) I158N probably damaging Het
Osm A G 11: 4,189,507 (GRCm39) Y97C probably damaging Het
Pclo T A 5: 14,816,792 (GRCm39) L4556Q unknown Het
Pcyox1l T C 18: 61,830,780 (GRCm39) D364G probably benign Het
Plekha6 T A 1: 133,211,031 (GRCm39) V467E probably benign Het
Qrsl1 A T 10: 43,758,158 (GRCm39) S312T probably damaging Het
Ripk1 T A 13: 34,194,572 (GRCm39) L70Q probably damaging Het
Rnaseh1 A T 12: 28,705,662 (GRCm39) Y162F probably damaging Het
Ror2 T A 13: 53,275,703 (GRCm39) T195S probably damaging Het
Sh3bp2 T C 5: 34,709,006 (GRCm39) L33P probably damaging Het
Skil T A 3: 31,151,968 (GRCm39) C163* probably null Het
Slc25a37 A T 14: 69,486,883 (GRCm39) N133K probably benign Het
Slitrk3 A C 3: 72,958,046 (GRCm39) V242G probably damaging Het
Sra1 A G 18: 36,801,845 (GRCm39) S82P probably benign Het
Synj2 A G 17: 6,088,199 (GRCm39) N1417D probably benign Het
Tas2r122 A G 6: 132,688,578 (GRCm39) V105A possibly damaging Het
Tasor2 T C 13: 3,624,661 (GRCm39) E1763G probably benign Het
Ttc21b T C 2: 66,018,624 (GRCm39) N1261S probably benign Het
Vmn2r69 A G 7: 85,055,889 (GRCm39) S750P probably damaging Het
Wdr95 A G 5: 149,519,786 (GRCm39) T568A probably benign Het
Zfp319 T A 8: 96,055,721 (GRCm39) I161F possibly 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
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 2015-04-16