Incidental Mutation 'R8956:Oxct1'
ID 682050
Institutional Source Beutler Lab
Gene Symbol Oxct1
Ensembl Gene ENSMUSG00000022186
Gene Name 3-oxoacid CoA transferase 1
Synonyms Scot-s, 2610008O03Rik
MMRRC Submission 068792-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8956 (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 4064806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 48 (E48G)
Ref Sequence ENSEMBL: ENSMUSP00000106318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110690] [ENSMUST00000138927]
AlphaFold Q9D0K2
Predicted Effect possibly damaging
Transcript: ENSMUST00000110690
AA Change: E48G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: E48G

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 possibly damaging
Transcript: ENSMUST00000138927
AA Change: E48G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: E48G

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 0.8849 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (87/89)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan C T 7: 78,750,713 (GRCm39) T1828I probably benign Het
Acsf2 A G 11: 94,461,211 (GRCm39) S322P probably benign Het
Acss2 T A 2: 155,391,438 (GRCm39) I170N probably damaging Het
Adam22 G A 5: 8,142,343 (GRCm39) T814I probably damaging Het
Agrn G T 4: 156,250,995 (GRCm39) D1914E probably damaging Het
Akap6 T C 12: 53,187,127 (GRCm39) S1514P probably benign Het
Akap9 T C 5: 3,998,805 (GRCm39) L58P possibly damaging Het
Apof A G 10: 128,105,712 (GRCm39) I289V probably benign Het
Arhgap35 G A 7: 16,348,404 (GRCm39) probably benign Het
Atad3a A C 4: 155,838,054 (GRCm39) F239L probably damaging Het
Atf6 T C 1: 170,621,576 (GRCm39) T482A probably damaging Het
Atg9b T C 5: 24,591,850 (GRCm39) probably benign Het
Atp8b4 T A 2: 126,167,327 (GRCm39) probably null Het
B4galt5 T C 2: 167,143,260 (GRCm39) Y388C probably damaging Het
Bahd1 T C 2: 118,749,689 (GRCm39) L495P probably damaging Het
Bcl6 T C 16: 23,793,716 (GRCm39) E77G probably damaging Het
Bst1 C A 5: 43,982,716 (GRCm39) S187* probably null Het
Car4 A G 11: 84,855,377 (GRCm39) N170S probably null Het
Cdk14 A T 5: 5,277,182 (GRCm39) V131E probably damaging Het
Cdk4 T A 10: 126,900,546 (GRCm39) probably benign Het
Cebpe T C 14: 54,949,121 (GRCm39) R99G probably damaging Het
Col9a1 G A 1: 24,276,300 (GRCm39) G736D probably damaging Het
Copa T A 1: 171,937,480 (GRCm39) V477D possibly damaging Het
Coq9 G A 8: 95,576,886 (GRCm39) G166D probably benign Het
Cttnbp2 A T 6: 18,434,165 (GRCm39) N564K possibly damaging Het
Dgkq T C 5: 108,798,095 (GRCm39) N721S probably benign Het
Dnhd1 A T 7: 105,341,852 (GRCm39) Y1217F probably damaging Het
Eef1akmt4 G T 16: 20,437,398 (GRCm39) E247* probably null Het
Elovl7 A T 13: 108,393,320 (GRCm39) I18F probably benign Het
Eml5 T C 12: 98,818,952 (GRCm39) K785E possibly damaging Het
Faap100 C A 11: 120,268,185 (GRCm39) C196F probably damaging Het
Fat2 G A 11: 55,173,729 (GRCm39) T2328M probably damaging Het
Gcnt2 T A 13: 41,041,204 (GRCm39) I121N probably benign Het
Gm12253 A G 11: 58,327,605 (GRCm39) K152E probably benign Het
Gm16440 T A 14: 17,574,527 (GRCm39) R167* probably null Het
Gm43302 T A 5: 105,425,602 (GRCm39) I276F possibly damaging Het
Gys2 A G 6: 142,374,267 (GRCm39) S593P probably damaging Het
H2-M10.4 T A 17: 36,772,245 (GRCm39) N168Y probably benign Het
Hpca C A 4: 129,012,287 (GRCm39) R83L probably damaging Het
Igkv8-28 A G 6: 70,121,109 (GRCm39) F13L probably benign Het
Il17ra A T 6: 120,458,465 (GRCm39) I539F probably damaging Het
Kdm4a A G 4: 118,019,013 (GRCm39) V401A possibly damaging Het
Krt86 A T 15: 101,375,157 (GRCm39) T351S probably benign Het
Lig4 A G 8: 10,021,378 (GRCm39) C801R probably benign Het
Lrrn4 G A 2: 132,714,011 (GRCm39) P312S probably damaging Het
Macf1 T A 4: 123,368,641 (GRCm39) H2040L probably benign Het
Madcam1 A G 10: 79,502,466 (GRCm39) K317E possibly damaging Het
Maip1 T C 1: 57,450,961 (GRCm39) I201T probably damaging Het
Map4k4 C A 1: 40,039,840 (GRCm39) D513E probably benign Het
Mideas T A 12: 84,209,102 (GRCm39) I667L probably benign Het
Mpped1 G A 15: 83,740,469 (GRCm39) G137R probably damaging Het
Mrgprd T G 7: 144,875,923 (GRCm39) F265V probably benign Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Mylk A G 16: 34,791,779 (GRCm39) T1484A probably benign Het
Nbas C T 12: 13,482,923 (GRCm39) S1400L possibly damaging Het
Nedd4 T A 9: 72,633,708 (GRCm39) S405T probably benign Het
Neil2 A G 14: 63,429,227 (GRCm39) V22A probably damaging Het
Nrip1 G C 16: 76,089,193 (GRCm39) A788G probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or10ab4 A G 7: 107,655,160 (GRCm39) T324A probably benign Het
Or10d4c C T 9: 39,558,496 (GRCm39) T158I probably damaging Het
Or2b7 T C 13: 21,740,169 (GRCm39) I8V probably benign Het
Or2bd2 G A 7: 6,442,020 (GRCm39) probably benign Het
Or2r2 T A 6: 42,463,830 (GRCm39) Q99L probably damaging Het
Or6c215 C T 10: 129,638,222 (GRCm39) M57I possibly damaging Het
Orc2 T C 1: 58,505,221 (GRCm39) N478S probably damaging Het
Pcca A G 14: 122,975,324 (GRCm39) I28V probably benign Het
Pcdha8 T C 18: 37,126,241 (GRCm39) V241A probably benign Het
Pgap6 T A 17: 26,339,374 (GRCm39) S563T possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkd2 T A 5: 104,631,090 (GRCm39) W505R probably damaging Het
Plxnc1 C T 10: 94,746,448 (GRCm39) V430I probably benign Het
Prkd3 A G 17: 79,278,883 (GRCm39) M401T probably damaging Het
Rgmb A G 17: 16,027,748 (GRCm39) C324R probably benign Het
Rsph6a A T 7: 18,799,364 (GRCm39) probably benign Het
Sclt1 A T 3: 41,636,209 (GRCm39) M264K probably benign Het
Serhl T A 15: 82,985,899 (GRCm39) V30D possibly damaging Het
Sfrp1 T C 8: 23,902,159 (GRCm39) V120A probably damaging Het
Slc22a8 C T 19: 8,587,030 (GRCm39) Q408* probably null Het
Slc35b2 A G 17: 45,877,673 (GRCm39) T218A probably damaging Het
Slco4c1 A T 1: 96,765,242 (GRCm39) F403I probably damaging Het
Sorbs1 T A 19: 40,351,660 (GRCm39) H250L probably damaging Het
Sorcs3 T A 19: 48,737,810 (GRCm39) C742* probably null Het
Tnc T C 4: 63,918,970 (GRCm39) Y1151C probably damaging Het
Tor1aip1 T A 1: 155,909,582 (GRCm39) probably benign Het
Trim9 T C 12: 70,393,665 (GRCm39) Q93R probably damaging Het
Tsnaxip1 A G 8: 106,570,813 (GRCm39) Y613C probably damaging Het
Ttc6 C T 12: 57,775,196 (GRCm39) Q1631* probably null Het
Ubr5 A G 15: 38,015,367 (GRCm39) L881P probably damaging Het
Upp2 C T 2: 58,457,454 (GRCm39) probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn2r116 A T 17: 23,605,736 (GRCm39) D216V probably damaging Het
Vps52 A G 17: 34,177,049 (GRCm39) Q96R probably benign 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
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
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'- GAATGTGATGTTATAGACTGTGGAC -3'
(R):5'- GAGTGCTAACCTTTCAGGAAGAG -3'

Sequencing Primer
(F):5'- GCAAATGATTGTTCACTGGA -3'
(R):5'- CTAACCTTTCAGGAAGAGGCTGTG -3'
Posted On 2021-08-31