Incidental Mutation 'IGL03146:Oxct1'
ID 410902
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 # IGL03146
Quality Score
Status
Chromosome 15
Chromosomal Location 4055910-4184826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4130630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 374 (L374P)
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: L374P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: L374P

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 probably damaging
Transcript: ENSMUST00000138927
AA Change: L374P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: L374P

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,294,519 (GRCm39) D360G probably damaging Het
Adam6a A T 12: 113,509,144 (GRCm39) T506S probably damaging Het
Adamts15 A G 9: 30,832,863 (GRCm39) V224A probably damaging Het
Arhgef12 G T 9: 42,885,866 (GRCm39) D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ccdc85c G A 12: 108,173,395 (GRCm39) R387* probably null Het
Cfap57 T A 4: 118,456,216 (GRCm39) I493F probably damaging Het
Chst9 A G 18: 15,586,035 (GRCm39) I176T probably damaging Het
Clpx G T 9: 65,234,112 (GRCm39) V572L probably benign Het
Csmd3 T A 15: 47,744,873 (GRCm39) N1374I probably benign Het
Cyp2e1 T A 7: 140,350,134 (GRCm39) M273K probably benign Het
Ehbp1l1 T C 19: 5,770,061 (GRCm39) E414G probably benign Het
Ehd1 T C 19: 6,327,368 (GRCm39) F122L probably damaging Het
Fcho1 A G 8: 72,170,074 (GRCm39) probably benign Het
Fermt3 T C 19: 6,980,631 (GRCm39) E312G possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
G3bp2 G A 5: 92,214,399 (GRCm39) R132C probably damaging Het
Inpp4b A T 8: 82,470,410 (GRCm39) I35F possibly damaging Het
Izumo3 T G 4: 92,033,276 (GRCm39) I107L probably damaging Het
Lama3 C A 18: 12,660,681 (GRCm39) Q484K possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mapkbp1 T C 2: 119,828,955 (GRCm39) probably benign Het
Mast4 T C 13: 102,874,163 (GRCm39) N1735S probably benign Het
Or14a257 T C 7: 86,138,402 (GRCm39) D119G probably damaging Het
Or4c100 T A 2: 88,356,488 (GRCm39) M187K possibly damaging Het
Parp14 G A 16: 35,678,823 (GRCm39) Q382* probably null Het
Pax2 A G 19: 44,821,714 (GRCm39) probably benign Het
Prkaa1 T C 15: 5,198,122 (GRCm39) V146A probably damaging Het
Ptprb C T 10: 116,164,032 (GRCm39) A900V probably benign Het
Rgs6 A T 12: 83,099,312 (GRCm39) D130V probably damaging Het
Ryr1 C A 7: 28,793,457 (GRCm39) R1344L probably benign Het
Scgb1b12 C A 7: 32,033,969 (GRCm39) D76E possibly damaging Het
Sel1l3 T A 5: 53,311,585 (GRCm39) E633D probably benign Het
Slc1a7 T A 4: 107,850,189 (GRCm39) I100N probably damaging Het
Slc25a35 A G 11: 68,859,678 (GRCm39) K64E possibly damaging Het
Spmip4 A T 6: 50,550,853 (GRCm39) V532E probably damaging Het
Stil C A 4: 114,881,612 (GRCm39) Q719K probably damaging Het
Stim1 T A 7: 102,070,562 (GRCm39) L265Q probably damaging Het
Tmem191 A G 16: 17,095,246 (GRCm39) E169G probably damaging Het
Tmem255b T C 8: 13,504,174 (GRCm39) L101P probably damaging Het
Trgv3 C A 13: 19,427,337 (GRCm39) Y73* probably null Het
Zfyve26 G A 12: 79,330,846 (GRCm39) Q458* probably null Het
Other mutations in Oxct1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Oxct1 APN 15 4,125,996 (GRCm39) missense probably damaging 0.99
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
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 2016-08-02