Incidental Mutation 'R6294:Oxct1'
ID 508634
Institutional Source Beutler Lab
Gene Symbol Oxct1
Ensembl Gene ENSMUSG00000022186
Gene Name 3-oxoacid CoA transferase 1
Synonyms Scot-s, 2610008O03Rik
MMRRC Submission 044406-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6294 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 4055910-4184826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4172304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 457 (T457A)
Ref Sequence ENSEMBL: ENSMUSP00000116343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110690] [ENSMUST00000138927]
AlphaFold Q9D0K2
Predicted Effect probably benign
Transcript: ENSMUST00000110690
AA Change: T457A

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: T457A

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: ENSMUST00000124591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133130
Predicted Effect possibly damaging
Transcript: ENSMUST00000138927
AA Change: T457A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: T457A

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 0.0661 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 99% (71/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,631,440 (GRCm39) H579L probably benign Het
Aldh2 G A 5: 121,710,879 (GRCm39) Q8* probably null Het
Ankdd1a G T 9: 65,427,446 (GRCm39) H10Q probably benign Het
Arpp21 A G 9: 111,956,520 (GRCm39) F453L probably damaging Het
Birc6 C A 17: 74,996,252 (GRCm39) D4461E probably benign Het
Cacna1b A T 2: 24,609,069 (GRCm39) S411T possibly damaging Het
Camk2g A G 14: 20,815,017 (GRCm39) I203T probably damaging Het
Cat A T 2: 103,290,640 (GRCm39) C425S probably benign Het
Ccdc34 A G 2: 109,848,496 (GRCm39) D95G probably benign Het
Clca4b T C 3: 144,630,946 (GRCm39) S305G probably null Het
Cul7 T C 17: 46,974,074 (GRCm39) I1453T probably benign Het
Dlg1 T A 16: 31,656,942 (GRCm39) I612N probably damaging Het
Dync2h1 T G 9: 7,084,986 (GRCm39) K561T probably benign Het
Erbin T C 13: 103,993,564 (GRCm39) T359A probably benign Het
Far2 T A 6: 148,058,980 (GRCm39) L222Q probably damaging Het
Fbxw17 A G 13: 50,577,839 (GRCm39) E114G probably benign Het
Fryl A T 5: 73,349,102 (GRCm39) probably benign Het
Ggn A G 7: 28,873,273 (GRCm39) D666G possibly damaging Het
Hal G A 10: 93,350,005 (GRCm39) probably null Het
Htt A G 5: 34,979,170 (GRCm39) D851G probably benign Het
Ighv14-2 A T 12: 113,958,218 (GRCm39) D74E probably benign Het
Igkv5-43 G A 6: 69,800,426 (GRCm39) S87L probably damaging Het
Klhl29 A T 12: 5,133,995 (GRCm39) F720I probably damaging Het
Klk1b8 T A 7: 43,602,196 (GRCm39) Y43N probably damaging Het
Krtap20-1 T A 16: 88,880,989 (GRCm39) Y7N unknown Het
Lama4 T A 10: 38,951,466 (GRCm39) F1070L probably damaging Het
Map4 A G 9: 109,831,814 (GRCm39) E98G possibly damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mki67 A G 7: 135,306,319 (GRCm39) M581T probably benign Het
Mtss2 T A 8: 111,453,960 (GRCm39) N43K possibly damaging Het
Mylk3 T A 8: 86,077,012 (GRCm39) I475F probably damaging Het
Nat14 C T 7: 4,927,073 (GRCm39) R82* probably null Het
Nckap1 T C 2: 80,371,858 (GRCm39) N324S probably benign Het
Nemp1 C T 10: 127,530,391 (GRCm39) T281M possibly damaging Het
Nrg3 A T 14: 38,119,196 (GRCm39) H425Q probably benign Het
Omd T A 13: 49,743,467 (GRCm39) N172K probably damaging Het
Or10c1 T C 17: 37,522,517 (GRCm39) T76A probably benign Het
Or12d12 T A 17: 37,610,444 (GRCm39) T290S probably benign Het
Or4f62 A G 2: 111,986,364 (GRCm39) I23V probably benign Het
Or52a33 A G 7: 103,288,798 (GRCm39) M183T probably damaging Het
Or52r1c A T 7: 102,734,874 (GRCm39) I45F probably benign Het
Or5b123 T C 19: 13,596,730 (GRCm39) V25A probably benign Het
Orc1 T C 4: 108,447,867 (GRCm39) I38T probably benign Het
Pcdh17 A T 14: 84,715,108 (GRCm39) K924N probably benign Het
Pkhd1l1 A T 15: 44,433,424 (GRCm39) I3435F probably damaging Het
Psg20 C A 7: 18,416,604 (GRCm39) V171F probably damaging Het
Rab11fip2 A T 19: 59,925,531 (GRCm39) S87T probably damaging Het
Rabgap1l T C 1: 160,059,419 (GRCm39) T237A probably benign Het
Rasgrp1 A T 2: 117,122,273 (GRCm39) Y372* probably null Het
Rell1 G T 5: 64,097,048 (GRCm39) probably benign Het
Rps14 A G 18: 60,910,033 (GRCm39) K61E possibly damaging Het
Rtl6 A G 15: 84,441,321 (GRCm39) V25A possibly damaging Het
Ryr2 G T 13: 11,894,382 (GRCm39) S185R probably damaging Het
Slc10a2 C T 8: 5,141,621 (GRCm39) probably null Het
Slc14a1 T A 18: 78,153,273 (GRCm39) probably null Het
Smad2 A T 18: 76,422,233 (GRCm39) N215I probably benign Het
Smchd1 A T 17: 71,677,922 (GRCm39) N1473K probably benign Het
Spag9 A G 11: 93,984,311 (GRCm39) probably null Het
Stk31 A C 6: 49,394,278 (GRCm39) R213S probably benign Het
Tmod4 A T 3: 95,035,617 (GRCm39) Q255L probably benign Het
Tnpo1 T A 13: 99,027,282 (GRCm39) Y3F probably benign Het
Tom1l1 A C 11: 90,552,587 (GRCm39) Y206* probably null Het
Tulp2 A G 7: 45,164,116 (GRCm39) K36E probably damaging Het
Tulp4 C T 17: 6,252,094 (GRCm39) R282C probably damaging Het
Unc5b A T 10: 60,614,110 (GRCm39) N246K possibly damaging Het
Ush2a C G 1: 188,268,567 (GRCm39) S1674R possibly damaging Het
Vmn1r224 T C 17: 20,640,083 (GRCm39) I220T probably benign Het
Vmn1r7 G C 6: 57,001,404 (GRCm39) N285K probably benign Het
Vmn2r83 C T 10: 79,313,688 (GRCm39) P99S probably damaging Het
Zbtb38 A G 9: 96,569,282 (GRCm39) F601L probably benign Het
Zc3h3 A T 15: 75,681,417 (GRCm39) S555T 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
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
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'- AGTTTCCCAGGGGTGATAGC -3'
(R):5'- CACAGACTAATGTAATCTCGTGGC -3'

Sequencing Primer
(F):5'- TCCCAGGGGTGATAGCTACCTAAAG -3'
(R):5'- CTCGTGGCTACTGACGTGATATAAC -3'
Posted On 2018-03-15