Incidental Mutation 'IGL00491:Oxct1'
ID |
4132 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Oxct1
|
Ensembl Gene |
ENSMUSG00000022186 |
Gene Name |
3-oxoacid CoA transferase 1 |
Synonyms |
Scot-s, 2610008O03Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00491
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
4055910-4184826 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4125996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 365
(N365D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110690]
[ENSMUST00000138927]
|
AlphaFold |
Q9D0K2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110690
AA Change: N365D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106318 Gene: ENSMUSG00000022186 AA Change: N365D
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000138927
AA Change: N365D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116343 Gene: ENSMUSG00000022186 AA Change: N365D
Domain | Start | End | E-Value | Type |
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
G |
T |
15: 94,171,113 (GRCm39) |
S1870Y |
possibly damaging |
Het |
Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
Ccdc7a |
A |
G |
8: 129,753,235 (GRCm39) |
|
probably benign |
Het |
Col13a1 |
T |
A |
10: 61,699,784 (GRCm39) |
|
probably null |
Het |
Dgkq |
A |
G |
5: 108,802,448 (GRCm39) |
S417P |
possibly damaging |
Het |
Dnah1 |
A |
G |
14: 30,983,796 (GRCm39) |
Y4016H |
probably damaging |
Het |
Dnajc1 |
A |
G |
2: 18,313,713 (GRCm39) |
V136A |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,792,827 (GRCm39) |
T944A |
probably damaging |
Het |
Gm10351 |
A |
T |
7: 42,749,217 (GRCm39) |
|
noncoding transcript |
Het |
Mettl9 |
T |
A |
7: 120,651,336 (GRCm39) |
V17E |
probably damaging |
Het |
Msh5 |
A |
G |
17: 35,249,706 (GRCm39) |
V613A |
probably damaging |
Het |
Nup54 |
T |
A |
5: 92,565,344 (GRCm39) |
I458L |
probably benign |
Het |
Patl1 |
T |
A |
19: 11,907,251 (GRCm39) |
N378K |
probably benign |
Het |
Plcl1 |
T |
C |
1: 55,752,657 (GRCm39) |
|
probably null |
Het |
Polk |
A |
T |
13: 96,633,268 (GRCm39) |
D258E |
probably benign |
Het |
Ppm1f |
T |
C |
16: 16,741,777 (GRCm39) |
L417P |
probably benign |
Het |
Rnf133 |
T |
C |
6: 23,649,255 (GRCm39) |
I225V |
probably benign |
Het |
Robo4 |
A |
T |
9: 37,317,231 (GRCm39) |
K463N |
possibly damaging |
Het |
Slc12a2 |
T |
A |
18: 58,069,477 (GRCm39) |
D1019E |
probably damaging |
Het |
Spock1 |
C |
A |
13: 57,704,619 (GRCm39) |
R116S |
possibly damaging |
Het |
Stambp |
G |
T |
6: 83,533,280 (GRCm39) |
L328I |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,010,889 (GRCm39) |
C598R |
probably damaging |
Het |
Tmem87a |
A |
G |
2: 120,210,261 (GRCm39) |
|
probably benign |
Het |
Tpra1 |
A |
G |
6: 88,887,390 (GRCm39) |
|
probably benign |
Het |
Vps13c |
A |
G |
9: 67,800,418 (GRCm39) |
E544G |
probably damaging |
Het |
|
Other mutations in Oxct1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |