Incidental Mutation 'R2069:Oxct1'
ID 226984
Institutional Source Beutler Lab
Gene Symbol Oxct1
Ensembl Gene ENSMUSG00000022186
Gene Name 3-oxoacid CoA transferase 1
Synonyms Scot-s, 2610008O03Rik
MMRRC Submission 040074-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2069 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 4055910-4184826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4122007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 319 (A319S)
Ref Sequence ENSEMBL: ENSMUSP00000116343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110690] [ENSMUST00000110690] [ENSMUST00000138927] [ENSMUST00000138927]
AlphaFold Q9D0K2
Predicted Effect probably null
Transcript: ENSMUST00000110690
AA Change: A319S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: A319S

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 null
Transcript: ENSMUST00000110690
AA Change: A319S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: A319S

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 null
Transcript: ENSMUST00000138927
AA Change: A319S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: A319S

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
Predicted Effect probably null
Transcript: ENSMUST00000138927
AA Change: A319S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: A319S

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
Meta Mutation Damage Score 0.7792 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (104/104)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,012,341 (GRCm39) V86A probably benign Het
Abcc3 A T 11: 94,255,243 (GRCm39) I601N probably damaging Het
Abl2 T A 1: 156,448,397 (GRCm39) probably null Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Ahi1 C T 10: 20,835,895 (GRCm39) T76I probably damaging Het
Arhgap42 C T 9: 9,035,601 (GRCm39) G247D probably damaging Het
Arid2 C T 15: 96,260,471 (GRCm39) L407F probably damaging Het
Atp13a1 T C 8: 70,252,423 (GRCm39) F606L probably benign Het
Avl9 T A 6: 56,713,420 (GRCm39) probably benign Het
B3glct C T 5: 149,632,845 (GRCm39) A65V probably damaging Het
Bcorl1 T C X: 47,490,794 (GRCm39) probably benign Het
Bdp1 T C 13: 100,187,496 (GRCm39) T1624A probably benign Het
Bmp15 A G X: 6,228,075 (GRCm39) M263T probably benign Het
Brd8 T C 18: 34,747,532 (GRCm39) K110E probably damaging Het
Cachd1 A G 4: 100,848,041 (GRCm39) D1052G probably damaging Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Ccdc113 G A 8: 96,283,924 (GRCm39) E333K probably benign Het
Ccnl2 A T 4: 155,896,938 (GRCm39) probably null Het
Ccr9 T C 9: 123,608,429 (GRCm39) F37S probably benign Het
Cdh20 A T 1: 110,065,889 (GRCm39) D721V probably damaging Het
Ceacam10 A T 7: 24,477,797 (GRCm39) N104I probably damaging Het
Cenpk T A 13: 104,372,684 (GRCm39) probably benign Het
Cfi A G 3: 129,652,453 (GRCm39) probably null Het
Chd1 T C 17: 15,962,556 (GRCm39) F771S probably damaging Het
Chil4 G A 3: 106,126,771 (GRCm39) L4F probably benign Het
Cilp G A 9: 65,185,372 (GRCm39) R489Q possibly damaging Het
Cntnap5b G A 1: 100,286,450 (GRCm39) G402R probably benign Het
Coq8b A G 7: 26,956,802 (GRCm39) E485G probably damaging Het
Cse1l A G 2: 166,783,412 (GRCm39) S733G probably benign Het
Dnah5 G A 15: 28,312,534 (GRCm39) probably null Het
Dnmt3l T C 10: 77,888,566 (GRCm39) V156A probably damaging Het
Duox1 A T 2: 122,163,543 (GRCm39) T792S probably benign Het
Duox2 T C 2: 122,117,589 (GRCm39) D915G probably benign Het
Efcab5 A T 11: 77,063,147 (GRCm39) M115K probably benign Het
Eif2s1 G A 12: 78,923,959 (GRCm39) D139N probably benign Het
Erg A G 16: 95,161,937 (GRCm39) F390L probably damaging Het
Fam193b A T 13: 55,690,811 (GRCm39) S650R probably damaging Het
Fbp2 T A 13: 63,001,875 (GRCm39) K113N possibly damaging Het
Fnbp4 T G 2: 90,588,716 (GRCm39) S496A probably damaging Het
Gab3 C A X: 74,043,701 (GRCm39) R475L probably damaging Het
Gsap T C 5: 21,431,837 (GRCm39) probably benign Het
Gucy1a2 C T 9: 3,582,697 (GRCm39) L160F probably damaging Het
Hivep1 C T 13: 42,337,262 (GRCm39) A2447V possibly damaging Het
Insc G T 7: 114,403,828 (GRCm39) probably null Het
Jph2 A G 2: 163,181,605 (GRCm39) S520P possibly damaging Het
Kidins220 T A 12: 25,037,005 (GRCm39) probably benign Het
Krtap29-1 A G 11: 99,869,438 (GRCm39) S148P probably damaging Het
Ltbp2 A C 12: 84,840,507 (GRCm39) C1000G probably damaging Het
Map2k3 T C 11: 60,840,853 (GRCm39) F294S probably damaging Het
Map4k2 C A 19: 6,392,768 (GRCm39) probably benign Het
Mboat2 T C 12: 25,001,442 (GRCm39) V281A probably benign Het
Mdga2 G A 12: 66,615,691 (GRCm39) R570* probably null Het
Mlxipl A G 5: 135,135,859 (GRCm39) D28G probably damaging Het
Morc2b T C 17: 33,355,734 (GRCm39) I679M probably benign Het
Myh4 T C 11: 67,137,192 (GRCm39) probably benign Het
Nfib A C 4: 82,416,852 (GRCm39) L61R probably damaging Het
Noc2l C A 4: 156,325,907 (GRCm39) Y227* probably null Het
Nrde2 A G 12: 100,108,491 (GRCm39) S367P probably damaging Het
Nup93 C A 8: 94,970,367 (GRCm39) P89T probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Or10a2 A T 7: 106,673,826 (GRCm39) K264* probably null Het
Or11h4 T A 14: 50,974,033 (GRCm39) E195D possibly damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or4k77 A G 2: 111,199,440 (GRCm39) I154M probably benign Het
Or6b9 A T 7: 106,555,494 (GRCm39) Y216* probably null Het
Or9r7 A G 10: 129,962,074 (GRCm39) I284T possibly damaging Het
P2ry10 A G X: 106,146,859 (GRCm39) S265G probably benign Het
Peak1 A T 9: 56,166,043 (GRCm39) N628K probably damaging Het
Pkdrej T A 15: 85,705,432 (GRCm39) Q168L probably benign Het
Plaat5 T C 19: 7,590,003 (GRCm39) S10P possibly damaging Het
Plec A G 15: 76,073,126 (GRCm39) M604T probably benign Het
Pmfbp1 A T 8: 110,258,735 (GRCm39) N680I possibly damaging Het
Pnma8b T C 7: 16,679,714 (GRCm39) W233R probably damaging Het
Pxn A G 5: 115,683,726 (GRCm39) N186S probably benign Het
Rsad1 A C 11: 94,439,951 (GRCm39) probably benign Het
Runx2 A G 17: 45,046,229 (GRCm39) I112T probably benign Het
S1pr2 A T 9: 20,878,790 (GRCm39) L346Q probably damaging Het
Skint6 A G 4: 113,095,329 (GRCm39) I110T probably damaging Het
Slc36a4 T A 9: 15,638,276 (GRCm39) F234Y probably damaging Het
Slitrk2 T A X: 65,698,235 (GRCm39) V242D probably damaging Het
Sp100 A G 1: 85,608,863 (GRCm39) probably null Het
Spryd3 A C 15: 102,026,616 (GRCm39) L352V probably benign Het
Ssc4d A C 5: 135,999,171 (GRCm39) W11G possibly damaging Het
Stx17 T A 4: 48,158,870 (GRCm39) D83E probably damaging Het
Tlk2 A T 11: 105,131,266 (GRCm39) Q204L probably benign Het
Tnfrsf21 A T 17: 43,348,829 (GRCm39) H147L possibly damaging Het
Tnrc18 A T 5: 142,751,842 (GRCm39) D1154E unknown Het
Trap1 A G 16: 3,886,200 (GRCm39) S86P probably benign Het
Trim32 T A 4: 65,533,013 (GRCm39) C523* probably null Het
Ttc38 G T 15: 85,722,989 (GRCm39) D146Y probably damaging Het
Ttc9 T A 12: 81,678,570 (GRCm39) L131Q probably damaging Het
Ttn T C 2: 76,557,192 (GRCm39) probably benign Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ubash3b G A 9: 40,954,869 (GRCm39) P92S possibly damaging Het
Ube4a T C 9: 44,859,397 (GRCm39) N367S probably damaging Het
Ubr4 T A 4: 139,206,851 (GRCm39) H4899Q possibly damaging Het
Ufl1 C T 4: 25,269,036 (GRCm39) G265D possibly damaging Het
Vmn2r27 T A 6: 124,201,442 (GRCm39) I172F probably damaging Het
Vmn2r6 A T 3: 64,463,519 (GRCm39) H438Q possibly damaging Het
Vmn2r61 A G 7: 41,949,425 (GRCm39) D615G probably benign Het
Wdr24 T A 17: 26,045,256 (GRCm39) D330E probably damaging Het
Zbbx A T 3: 74,985,719 (GRCm39) N444K probably benign Het
Zc3h7b A T 15: 81,676,529 (GRCm39) Q757L probably damaging Het
Zpld2 T G 4: 133,929,252 (GRCm39) N351T possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CCTCCTACCAGTAATGAGTGC -3'
(R):5'- AGTTGCCATCAAGAAAGCAAGC -3'

Sequencing Primer
(F):5'- TCCTCCAAAAGTCTTTATATTCAAGC -3'
(R):5'- TTGCCATCAAGAAAGCAAGCAGATC -3'
Posted On 2014-09-17