Incidental Mutation 'R2069:Oxct1'
ID226984
Institutional Source Beutler Lab
Gene Symbol Oxct1
Ensembl Gene ENSMUSG00000022186
Gene Name3-oxoacid CoA transferase 1
Synonyms2610008O03Rik, Scot-s
MMRRC Submission 040074-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2069 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location4026383-4155344 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 4092525 bp
ZygosityHeterozygous
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]
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: 114,874,280 V86A probably benign Het
Abcc3 A T 11: 94,364,417 I601N probably damaging Het
Abl2 T A 1: 156,620,827 probably null Het
Adgrf4 C T 17: 42,666,898 R518Q possibly damaging Het
Ahi1 C T 10: 20,959,996 T76I probably damaging Het
Arhgap42 C T 9: 9,035,600 G247D probably damaging Het
Arid2 C T 15: 96,362,590 L407F probably damaging Het
Atp13a1 T C 8: 69,799,773 F606L probably benign Het
Avl9 T A 6: 56,736,435 probably benign Het
B3glct C T 5: 149,709,380 A65V probably damaging Het
Bcorl1 T C X: 48,401,917 probably benign Het
Bdp1 T C 13: 100,050,988 T1624A probably benign Het
Bmp15 A G X: 6,316,021 M263T probably benign Het
Brd8 T C 18: 34,614,479 K110E probably damaging Het
Cachd1 A G 4: 100,990,844 D1052G probably damaging Het
Capn9 G A 8: 124,605,711 G430R possibly damaging Het
Ccdc113 G A 8: 95,557,296 E333K probably benign Het
Ccnl2 A T 4: 155,812,481 probably null Het
Ccr9 T C 9: 123,779,364 F37S probably benign Het
Cdh7 A T 1: 110,138,159 D721V probably damaging Het
Ceacam10 A T 7: 24,778,372 N104I probably damaging Het
Cenpk T A 13: 104,236,176 probably benign Het
Cfi A G 3: 129,858,804 probably null Het
Chd1 T C 17: 15,742,294 F771S probably damaging Het
Chil4 G A 3: 106,219,455 L4F probably benign Het
Cilp G A 9: 65,278,090 R489Q possibly damaging Het
Cntnap5b G A 1: 100,358,725 G402R probably benign Het
Coq8b A G 7: 27,257,377 E485G probably damaging Het
Cse1l A G 2: 166,941,492 S733G probably benign Het
Dnah5 G A 15: 28,312,388 probably null Het
Dnmt3l T C 10: 78,052,732 V156A probably damaging Het
Duox1 A T 2: 122,333,062 T792S probably benign Het
Duox2 T C 2: 122,287,108 D915G probably benign Het
Efcab5 A T 11: 77,172,321 M115K probably benign Het
Eif2s1 G A 12: 78,877,185 D139N probably benign Het
Erg A G 16: 95,361,078 F390L probably damaging Het
Fam193b A T 13: 55,542,998 S650R probably damaging Het
Fbp2 T A 13: 62,854,061 K113N possibly damaging Het
Fnbp4 T G 2: 90,758,372 S496A probably damaging Het
Gab3 C A X: 75,000,095 R475L probably damaging Het
Gm7534 T G 4: 134,201,941 N351T possibly damaging Het
Gsap T C 5: 21,226,839 probably benign Het
Gucy1a2 C T 9: 3,582,697 L160F probably damaging Het
Hivep1 C T 13: 42,183,786 A2447V possibly damaging Het
Hrasls5 T C 19: 7,612,638 S10P possibly damaging Het
Insc G T 7: 114,804,593 probably null Het
Jph2 A G 2: 163,339,685 S520P possibly damaging Het
Kidins220 T A 12: 24,987,006 probably benign Het
Krtap29-1 A G 11: 99,978,612 S148P probably damaging Het
Ltbp2 A C 12: 84,793,733 C1000G probably damaging Het
Map2k3 T C 11: 60,950,027 F294S probably damaging Het
Map4k2 C A 19: 6,342,738 probably benign Het
Mboat2 T C 12: 24,951,443 V281A probably benign Het
Mdga2 G A 12: 66,568,917 R570* probably null Het
Mlxipl A G 5: 135,107,005 D28G probably damaging Het
Morc2b T C 17: 33,136,760 I679M probably benign Het
Myh4 T C 11: 67,246,366 probably benign Het
Nfib A C 4: 82,498,615 L61R probably damaging Het
Noc2l C A 4: 156,241,450 Y227* probably null Het
Nrde2 A G 12: 100,142,232 S367P probably damaging Het
Nup93 C A 8: 94,243,739 P89T probably damaging Het
Obsl1 G A 1: 75,486,756 T1764M probably benign Het
Olfr1240 C T 2: 89,439,583 R232H probably benign Het
Olfr1283 A G 2: 111,369,095 I154M probably benign Het
Olfr6 A T 7: 106,956,287 Y216* probably null Het
Olfr714 A T 7: 107,074,619 K264* probably null Het
Olfr749 T A 14: 50,736,576 E195D possibly damaging Het
Olfr824 A G 10: 130,126,205 I284T possibly damaging Het
P2ry10 A G X: 107,103,253 S265G probably benign Het
Peak1 A T 9: 56,258,759 N628K probably damaging Het
Pkdrej T A 15: 85,821,231 Q168L probably benign Het
Plec A G 15: 76,188,926 M604T probably benign Het
Pmfbp1 A T 8: 109,532,103 N680I possibly damaging Het
Pnmal2 T C 7: 16,945,789 W233R probably damaging Het
Pxn A G 5: 115,545,667 N186S probably benign Het
Rsad1 A C 11: 94,549,125 probably benign Het
Runx2 A G 17: 44,735,342 I112T probably benign Het
S1pr2 A T 9: 20,967,494 L346Q probably damaging Het
Skint6 A G 4: 113,238,132 I110T probably damaging Het
Slc36a4 T A 9: 15,726,980 F234Y probably damaging Het
Slitrk2 T A X: 66,654,629 V242D probably damaging Het
Sp100 A G 1: 85,681,142 probably null Het
Spryd3 A C 15: 102,118,181 L352V probably benign Het
Ssc4d A C 5: 135,970,317 W11G possibly damaging Het
Stx17 T A 4: 48,158,870 D83E probably damaging Het
Tlk2 A T 11: 105,240,440 Q204L probably benign Het
Tnfrsf21 A T 17: 43,037,938 H147L possibly damaging Het
Tnrc18 A T 5: 142,766,087 D1154E unknown Het
Trap1 A G 16: 4,068,336 S86P probably benign Het
Trim32 T A 4: 65,614,776 C523* probably null Het
Ttc38 G T 15: 85,838,788 D146Y probably damaging Het
Ttc9 T A 12: 81,631,796 L131Q probably damaging Het
Ttn C T 2: 76,813,339 G11436R probably damaging Het
Ttn T C 2: 76,726,848 probably benign Het
Ubash3b G A 9: 41,043,573 P92S possibly damaging Het
Ube4a T C 9: 44,948,099 N367S probably damaging Het
Ubr4 T A 4: 139,479,540 H4899Q possibly damaging Het
Ufl1 C T 4: 25,269,036 G265D possibly damaging Het
Vmn2r27 T A 6: 124,224,483 I172F probably damaging Het
Vmn2r6 A T 3: 64,556,098 H438Q possibly damaging Het
Vmn2r61 A G 7: 42,300,001 D615G probably benign Het
Wdr24 T A 17: 25,826,282 D330E probably damaging Het
Zbbx A T 3: 75,078,412 N444K probably benign Het
Zc3h7b A T 15: 81,792,328 Q757L 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
IGL01068:Oxct1 APN 15 4053764 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
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
Z1177:Oxct1 UTSW 15 4059991 missense probably benign 0.09
Z1177:Oxct1 UTSW 15 4094059 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CCTCCTACCAGTAATGAGTGC -3'
(R):5'- AGTTGCCATCAAGAAAGCAAGC -3'

Sequencing Primer
(F):5'- TCCTCCAAAAGTCTTTATATTCAAGC -3'
(R):5'- TTGCCATCAAGAAAGCAAGCAGATC -3'
Posted On2014-09-17