Incidental Mutation 'R5554:Oxct1'
ID435312
Institutional Source Beutler Lab
Gene Symbol Oxct1
Ensembl Gene ENSMUSG00000022186
Gene Name3-oxoacid CoA transferase 1
Synonyms2610008O03Rik, Scot-s
MMRRC Submission 043111-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5554 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location4026383-4155344 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4091195 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 254 (F254I)
Ref Sequence ENSEMBL: ENSMUSP00000106318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110690] [ENSMUST00000138927]
Predicted Effect probably benign
Transcript: ENSMUST00000110690
AA Change: F254I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: F254I

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 benign
Transcript: ENSMUST00000138927
AA Change: F254I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: F254I

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 0.2391 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 97% (73/75)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 C A 11: 101,413,981 R227L probably benign Het
Adamtsl1 A G 4: 86,276,945 Q533R possibly damaging Het
Adgb C T 10: 10,340,473 R1524H probably damaging Het
Ank2 A T 3: 126,998,973 N739K possibly damaging Het
Ankrd39 C T 1: 36,541,981 G96R probably damaging Het
Anxa10 G A 8: 62,061,046 P249L possibly damaging Het
Banp G A 8: 121,991,595 E183K probably damaging Het
BC051665 C G 13: 60,784,621 L83F probably damaging Het
Btn1a1 A T 13: 23,459,125 F385I possibly damaging Het
Chchd4 A T 6: 91,465,017 *140R probably null Het
Dcpp2 T C 17: 23,900,571 Y120H probably damaging Het
Dlx2 G A 2: 71,545,461 R173C possibly damaging Het
Dmbt1 C A 7: 131,099,300 Y1069* probably null Het
Dopey1 T A 9: 86,521,657 F1637I probably damaging Het
Dusp18 T C 11: 3,897,202 I64T probably damaging Het
Evi5l A G 8: 4,206,491 probably benign Het
Fam212b T A 3: 105,716,614 S82R possibly damaging Het
Fiz1 T C 7: 5,012,850 H47R probably damaging Het
Fndc3b G T 3: 27,643,013 P17T possibly damaging Het
Foxa1 T A 12: 57,542,291 Q381L probably benign Het
Gda A G 19: 21,428,473 probably null Het
Gm10044 T C 14: 7,771,181 noncoding transcript Het
Gm12258 T A 11: 58,858,468 S156R possibly damaging Het
Gm973 A G 1: 59,526,972 R117G probably benign Het
Grwd1 C T 7: 45,830,640 V48I probably damaging Het
Ifi209 T A 1: 173,641,197 S198T probably benign Het
Itga1 A T 13: 114,992,474 C549* probably null Het
Kmt2c C A 5: 25,294,610 G511C probably damaging Het
Knstrn T C 2: 118,833,963 probably benign Het
Lrp2 T C 2: 69,552,424 Y39C possibly damaging Het
Minos1 T C 4: 139,105,907 probably benign Het
N4bp2 T C 5: 65,808,114 Y1169H probably benign Het
Nbr1 C T 11: 101,564,807 T129I probably benign Het
Olfr178 A T 16: 58,889,806 M138K possibly damaging Het
Olfr671 A C 7: 104,975,982 M1R probably null Het
Olfr843 T C 9: 19,248,743 I219V probably benign Het
Patj T A 4: 98,454,396 S576T possibly damaging Het
Pdxdc1 A T 16: 13,872,499 C202S probably benign Het
Pet100 A T 8: 3,622,381 I19F probably damaging Het
Pik3r5 T C 11: 68,494,233 Y655H probably damaging Het
Pkhd1 A G 1: 20,081,252 S3807P probably damaging Het
Ptma A G 1: 86,526,927 T8A probably damaging Het
Ptpn3 G T 4: 57,240,843 N257K probably damaging Het
R3hdm1 C A 1: 128,236,672 Q1108K probably benign Het
Rimbp2 T C 5: 128,780,342 D815G probably damaging Het
Scn10a A G 9: 119,694,130 F66L probably benign Het
Selenot T C 3: 58,576,875 probably null Het
Serpinb8 A G 1: 107,598,975 T82A probably benign Het
Serpini2 G A 3: 75,267,988 probably benign Het
Slc1a6 G T 10: 78,795,982 G214V probably benign Het
Slc5a6 C A 5: 31,038,100 A425S probably damaging Het
Smo C A 6: 29,736,124 N38K possibly damaging Het
Smtn A T 11: 3,520,811 C909* probably null Het
Sntg2 C T 12: 30,258,041 R215H probably benign Het
Stk4 T A 2: 164,099,725 V287E probably benign Het
Tdrd7 A G 4: 46,005,358 D388G possibly damaging Het
Tmem57 T C 4: 134,828,134 I343V probably benign Het
Ttn A T 2: 76,812,308 F13294L probably damaging Het
Ube2j1 T G 4: 33,040,745 F84V probably damaging Het
Ugt3a2 A G 15: 9,370,201 Q477R probably damaging Het
Utf1 T C 7: 139,943,946 S25P probably benign Het
Vmn1r184 A T 7: 26,266,988 H53L probably damaging Het
Vmn2r13 A T 5: 109,191,994 N38K possibly damaging Het
Vps13a C T 19: 16,722,411 D756N probably damaging Het
Vwa1 G T 4: 155,773,238 D34E probably damaging Het
Zfhx2 A C 14: 55,064,317 L2070R probably damaging Het
Zfp984 A G 4: 147,755,905 V163A probably benign Het
Zp3r A T 1: 130,583,471 M325K probably benign 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
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
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
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'- GTCACTTTATGTCCTGAATTGTGC -3'
(R):5'- AATGGACTCACAGGAAACTCCG -3'

Sequencing Primer
(F):5'- GGCTCTGAAAAGTCTGGT -3'
(R):5'- CTCCGACTTAAGAGACAGAGTG -3'
Posted On2016-10-24