Incidental Mutation 'IGL01068:Oxct1'
ID 52763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oxct1
Ensembl Gene ENSMUSG00000022186
Gene Name 3-oxoacid CoA transferase 1
Synonyms 2610008O03Rik, Scot-s
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01068
Quality Score
Status
Chromosome 15
Chromosomal Location 4026383-4155344 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4053764 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 155 (F155S)
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: F155S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: F155S

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: F155S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: F155S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,504,175 probably benign Het
Adgra1 A G 7: 139,845,625 E18G probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Atg16l1 C T 1: 87,774,824 S269L probably damaging Het
Atp8a1 A G 5: 67,667,337 V853A probably benign Het
Bicral T C 17: 46,825,391 I298V probably damaging Het
Cad A G 5: 31,061,770 probably benign Het
Chd9 A T 8: 91,042,116 Y2448F probably benign Het
Clstn3 A G 6: 124,462,139 L16S probably damaging Het
Cmtr2 G A 8: 110,222,869 V604M possibly damaging Het
Ctcf A T 8: 105,681,485 probably benign Het
Eif2ak2 A G 17: 78,865,371 I295T probably damaging Het
Foxm1 G A 6: 128,370,967 R284H possibly damaging Het
Gabra2 T C 5: 70,962,072 I362M probably benign Het
Hivep1 C A 13: 42,159,984 P1900Q probably benign Het
Klhl25 G T 7: 75,866,149 E268* probably null Het
Klk1b16 T C 7: 44,140,678 L124P probably damaging Het
Ltf A T 9: 111,035,812 probably null Het
Mpped2 T A 2: 106,864,746 H248Q probably damaging Het
Mrpl1 T A 5: 96,224,036 probably benign Het
Mthfd1l T A 10: 4,028,428 S429R probably damaging Het
Myl2 G A 5: 122,106,704 V146I probably benign Het
Myo10 T A 15: 25,739,309 I527N possibly damaging Het
Ncoa3 T C 2: 166,052,795 S333P probably damaging Het
Olfr1297 T G 2: 111,621,340 T245P probably damaging Het
Olfr350 T G 2: 36,850,270 S75A probably damaging Het
P4ha1 T C 10: 59,339,335 V39A probably damaging Het
Padi6 G T 4: 140,730,953 T514N possibly damaging Het
Pgm1 G A 5: 64,107,796 V387I probably damaging Het
Ppt1 G A 4: 122,844,007 C46Y probably damaging Het
Rnf225 T C 7: 12,928,900 probably benign Het
Rpl26 T C 11: 68,902,398 Y42H probably benign Het
Rundc1 A G 11: 101,434,142 N558S probably damaging Het
Sema3e T G 5: 14,233,718 probably null Het
Slc8a1 T C 17: 81,388,942 I888V probably benign Het
Thsd7b T C 1: 129,596,146 C306R probably damaging Het
Tmem209 A C 6: 30,502,086 L197R probably benign Het
Tmem38b T G 4: 53,849,024 V119G probably damaging Het
Trpc1 T C 9: 95,726,494 D82G probably damaging Het
Zfp292 A G 4: 34,806,763 F2094L probably damaging Het
Zfp638 C T 6: 83,934,994 R453W probably damaging Het
Other mutations in Oxct1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Oxct1 APN 15 4096514 missense probably damaging 0.99
IGL00870:Oxct1 APN 15 4101818 missense probably damaging 1.00
IGL01681:Oxct1 APN 15 4101844 missense possibly damaging 0.80
IGL02040:Oxct1 APN 15 4026768 utr 5 prime probably benign
IGL02149:Oxct1 APN 15 4091229 missense probably damaging 0.98
IGL02327:Oxct1 APN 15 4037089 critical splice acceptor site probably null
IGL03108:Oxct1 APN 15 4035282 missense probably benign 0.05
IGL03146:Oxct1 APN 15 4101148 missense probably damaging 0.99
IGL03195:Oxct1 APN 15 4101189 missense possibly damaging 0.50
kettle UTSW 15 4035330 missense probably benign 0.38
R1169:Oxct1 UTSW 15 4091226 missense probably damaging 1.00
R1487:Oxct1 UTSW 15 4147575 missense possibly damaging 0.87
R2011:Oxct1 UTSW 15 4153761 missense probably benign 0.36
R2069:Oxct1 UTSW 15 4092525 missense probably null 0.99
R3691:Oxct1 UTSW 15 4047517 missense probably benign 0.02
R3930:Oxct1 UTSW 15 4037119 missense possibly damaging 0.92
R3931:Oxct1 UTSW 15 4037119 missense possibly damaging 0.92
R5137:Oxct1 UTSW 15 4035350 missense probably benign 0.00
R5165:Oxct1 UTSW 15 4053769 missense possibly damaging 0.87
R5554:Oxct1 UTSW 15 4091195 missense probably benign 0.01
R5650:Oxct1 UTSW 15 4142850 missense probably damaging 1.00
R6225:Oxct1 UTSW 15 4035330 missense probably benign 0.38
R6294:Oxct1 UTSW 15 4142822 missense possibly damaging 0.52
R6395:Oxct1 UTSW 15 4026827 missense possibly damaging 0.73
R6736:Oxct1 UTSW 15 4092417 missense probably benign
R7195:Oxct1 UTSW 15 4128901 missense probably damaging 0.99
R7204:Oxct1 UTSW 15 4094042 missense probably damaging 1.00
R7810:Oxct1 UTSW 15 4047576 missense probably benign 0.01
R8085:Oxct1 UTSW 15 4128868 missense probably damaging 1.00
R8702:Oxct1 UTSW 15 4153761 missense probably benign 0.36
R8871:Oxct1 UTSW 15 4035281 missense probably benign 0.03
R8956:Oxct1 UTSW 15 4035324 missense possibly damaging 0.87
Z1177:Oxct1 UTSW 15 4059991 missense probably benign 0.09
Z1177:Oxct1 UTSW 15 4094059 missense probably benign 0.02
Posted On 2013-06-21