Incidental Mutation 'IGL03195:Oxct1'
ID |
412771 |
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 # |
IGL03195
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
4055910-4184826 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4130671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 388
(M388V)
|
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: M388V
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106318 Gene: ENSMUSG00000022186 AA Change: M388V
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 |
probably benign
Transcript: ENSMUST00000138927
AA Change: M388V
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000116343 Gene: ENSMUSG00000022186 AA Change: M388V
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,903,607 (GRCm39) |
D1086G |
possibly damaging |
Het |
Ahcyl2 |
T |
C |
6: 29,906,768 (GRCm39) |
|
probably benign |
Het |
Ankrd42 |
T |
A |
7: 92,241,066 (GRCm39) |
Q431L |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,031,766 (GRCm39) |
F592I |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,088,071 (GRCm39) |
|
probably null |
Het |
Boc |
A |
G |
16: 44,313,184 (GRCm39) |
F560S |
probably damaging |
Het |
Ccdc81 |
A |
T |
7: 89,545,916 (GRCm39) |
V96E |
probably benign |
Het |
Cep162 |
C |
T |
9: 87,107,839 (GRCm39) |
S517N |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,085,178 (GRCm39) |
N372S |
probably benign |
Het |
Dnah7a |
G |
A |
1: 53,458,766 (GRCm39) |
R3791C |
probably damaging |
Het |
Fdxr |
T |
C |
11: 115,166,918 (GRCm39) |
Q57R |
probably benign |
Het |
Fsip2l |
T |
A |
X: 47,961,825 (GRCm39) |
Q296L |
possibly damaging |
Het |
G3bp2 |
A |
G |
5: 92,216,367 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,678,660 (GRCm39) |
T487I |
probably benign |
Het |
Kpna7 |
A |
T |
5: 144,933,847 (GRCm39) |
I282N |
probably damaging |
Het |
Lif |
A |
T |
11: 4,219,201 (GRCm39) |
Y160F |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,361,134 (GRCm39) |
D556E |
possibly damaging |
Het |
Myom2 |
G |
T |
8: 15,161,844 (GRCm39) |
E954* |
probably null |
Het |
Nr6a1 |
A |
T |
2: 38,632,948 (GRCm39) |
I171N |
probably damaging |
Het |
Nup210 |
C |
A |
6: 90,992,832 (GRCm39) |
R1059L |
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,770,877 (GRCm39) |
T3A |
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,351,980 (GRCm39) |
I205T |
probably benign |
Het |
Or2w25 |
G |
A |
11: 59,504,629 (GRCm39) |
V280M |
probably damaging |
Het |
Or5ak4 |
A |
T |
2: 85,161,864 (GRCm39) |
I126N |
probably damaging |
Het |
Or5aq6 |
A |
T |
2: 86,922,913 (GRCm39) |
V276E |
probably damaging |
Het |
Ostm1 |
T |
C |
10: 42,574,213 (GRCm39) |
V302A |
probably damaging |
Het |
Ppp6r2 |
G |
A |
15: 89,152,758 (GRCm39) |
V300I |
possibly damaging |
Het |
Prmt1 |
T |
C |
7: 44,626,995 (GRCm39) |
Y205C |
probably damaging |
Het |
Slc45a4 |
A |
C |
15: 73,456,272 (GRCm39) |
V636G |
possibly damaging |
Het |
Spata18 |
T |
A |
5: 73,828,591 (GRCm39) |
L270Q |
probably damaging |
Het |
Stard9 |
G |
A |
2: 120,536,283 (GRCm39) |
D4151N |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 129,556,646 (GRCm39) |
C334Y |
probably damaging |
Het |
Tmtc3 |
C |
T |
10: 100,294,896 (GRCm39) |
V406M |
probably benign |
Het |
Trpc5 |
T |
A |
X: 143,165,724 (GRCm39) |
M900L |
probably benign |
Het |
Ttc9c |
T |
C |
19: 8,793,344 (GRCm39) |
K99E |
probably benign |
Het |
Vmn1r73 |
A |
G |
7: 11,491,007 (GRCm39) |
E275G |
probably damaging |
Het |
|
Other mutations in Oxct1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2016-08-02 |