Incidental Mutation 'IGL00491:Oxct1'
ID 4132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oxct1
Ensembl Gene ENSMUSG00000022186
Gene Name 3-oxoacid CoA transferase 1
Synonyms Scot-s, 2610008O03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00491
Quality Score
Status
Chromosome 15
Chromosomal Location 4055910-4184826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4125996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 365 (N365D)
Ref Sequence ENSEMBL: ENSMUSP00000106318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110690] [ENSMUST00000138927]
AlphaFold Q9D0K2
Predicted Effect probably damaging
Transcript: ENSMUST00000110690
AA Change: N365D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: N365D

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
CoA_trans 43 272 2.41e-86 SMART
low complexity region 286 299 N/A INTRINSIC
CoA_trans 303 501 5.18e-77 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131240
Predicted Effect probably damaging
Transcript: ENSMUST00000138927
AA Change: N365D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: N365D

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
CoA_trans 43 272 2.41e-86 SMART
low complexity region 286 299 N/A INTRINSIC
CoA_trans 303 484 3.1e-57 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperketonemia, ketoacidosis, increased glucose oxidation in the brain, increased autophagy in the brain, and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,171,113 (GRCm39) S1870Y possibly damaging Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Ccdc7a A G 8: 129,753,235 (GRCm39) probably benign Het
Col13a1 T A 10: 61,699,784 (GRCm39) probably null Het
Dgkq A G 5: 108,802,448 (GRCm39) S417P possibly damaging Het
Dnah1 A G 14: 30,983,796 (GRCm39) Y4016H probably damaging Het
Dnajc1 A G 2: 18,313,713 (GRCm39) V136A possibly damaging Het
Fcgbp A G 7: 27,792,827 (GRCm39) T944A probably damaging Het
Gm10351 A T 7: 42,749,217 (GRCm39) noncoding transcript Het
Mettl9 T A 7: 120,651,336 (GRCm39) V17E probably damaging Het
Msh5 A G 17: 35,249,706 (GRCm39) V613A probably damaging Het
Nup54 T A 5: 92,565,344 (GRCm39) I458L probably benign Het
Patl1 T A 19: 11,907,251 (GRCm39) N378K probably benign Het
Plcl1 T C 1: 55,752,657 (GRCm39) probably null Het
Polk A T 13: 96,633,268 (GRCm39) D258E probably benign Het
Ppm1f T C 16: 16,741,777 (GRCm39) L417P probably benign Het
Rnf133 T C 6: 23,649,255 (GRCm39) I225V probably benign Het
Robo4 A T 9: 37,317,231 (GRCm39) K463N possibly damaging Het
Slc12a2 T A 18: 58,069,477 (GRCm39) D1019E probably damaging Het
Spock1 C A 13: 57,704,619 (GRCm39) R116S possibly damaging Het
Stambp G T 6: 83,533,280 (GRCm39) L328I probably damaging Het
Tdrd7 T C 4: 46,010,889 (GRCm39) C598R probably damaging Het
Tmem87a A G 2: 120,210,261 (GRCm39) probably benign Het
Tpra1 A G 6: 88,887,390 (GRCm39) probably benign Het
Vps13c A G 9: 67,800,418 (GRCm39) E544G probably damaging Het
Other mutations in Oxct1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Oxct1 APN 15 4,131,300 (GRCm39) missense probably damaging 1.00
IGL01068:Oxct1 APN 15 4,083,246 (GRCm39) missense probably damaging 1.00
IGL01681:Oxct1 APN 15 4,131,326 (GRCm39) missense possibly damaging 0.80
IGL02040:Oxct1 APN 15 4,056,250 (GRCm39) utr 5 prime probably benign
IGL02149:Oxct1 APN 15 4,120,711 (GRCm39) missense probably damaging 0.98
IGL02327:Oxct1 APN 15 4,066,571 (GRCm39) critical splice acceptor site probably null
IGL03108:Oxct1 APN 15 4,064,764 (GRCm39) missense probably benign 0.05
IGL03146:Oxct1 APN 15 4,130,630 (GRCm39) missense probably damaging 0.99
IGL03195:Oxct1 APN 15 4,130,671 (GRCm39) missense possibly damaging 0.50
kettle UTSW 15 4,064,812 (GRCm39) missense probably benign 0.38
R1169:Oxct1 UTSW 15 4,120,708 (GRCm39) missense probably damaging 1.00
R1487:Oxct1 UTSW 15 4,177,057 (GRCm39) missense possibly damaging 0.87
R2011:Oxct1 UTSW 15 4,183,243 (GRCm39) missense probably benign 0.36
R2069:Oxct1 UTSW 15 4,122,007 (GRCm39) missense probably null 0.99
R3691:Oxct1 UTSW 15 4,076,999 (GRCm39) missense probably benign 0.02
R3930:Oxct1 UTSW 15 4,066,601 (GRCm39) missense possibly damaging 0.92
R3931:Oxct1 UTSW 15 4,066,601 (GRCm39) missense possibly damaging 0.92
R5137:Oxct1 UTSW 15 4,064,832 (GRCm39) missense probably benign 0.00
R5165:Oxct1 UTSW 15 4,083,251 (GRCm39) missense possibly damaging 0.87
R5554:Oxct1 UTSW 15 4,120,677 (GRCm39) missense probably benign 0.01
R5650:Oxct1 UTSW 15 4,172,332 (GRCm39) missense probably damaging 1.00
R6225:Oxct1 UTSW 15 4,064,812 (GRCm39) missense probably benign 0.38
R6294:Oxct1 UTSW 15 4,172,304 (GRCm39) missense possibly damaging 0.52
R6395:Oxct1 UTSW 15 4,056,309 (GRCm39) missense possibly damaging 0.73
R6736:Oxct1 UTSW 15 4,121,899 (GRCm39) missense probably benign
R7195:Oxct1 UTSW 15 4,158,383 (GRCm39) missense probably damaging 0.99
R7204:Oxct1 UTSW 15 4,123,524 (GRCm39) missense probably damaging 1.00
R7810:Oxct1 UTSW 15 4,077,058 (GRCm39) missense probably benign 0.01
R8085:Oxct1 UTSW 15 4,158,350 (GRCm39) missense probably damaging 1.00
R8702:Oxct1 UTSW 15 4,183,243 (GRCm39) missense probably benign 0.36
R8871:Oxct1 UTSW 15 4,064,763 (GRCm39) missense probably benign 0.03
R8956:Oxct1 UTSW 15 4,064,806 (GRCm39) missense possibly damaging 0.87
Z1177:Oxct1 UTSW 15 4,123,541 (GRCm39) missense probably benign 0.02
Z1177:Oxct1 UTSW 15 4,089,473 (GRCm39) missense probably benign 0.09
Posted On 2012-04-20