Incidental Mutation 'IGL03146:Oxct1'
ID |
410902 |
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 # |
IGL03146
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
4055910-4184826 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4130630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 374
(L374P)
|
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: L374P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106318 Gene: ENSMUSG00000022186 AA Change: L374P
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 damaging
Transcript: ENSMUST00000138927
AA Change: L374P
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000116343 Gene: ENSMUSG00000022186 AA Change: L374P
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
C |
8: 25,294,519 (GRCm39) |
D360G |
probably damaging |
Het |
Adam6a |
A |
T |
12: 113,509,144 (GRCm39) |
T506S |
probably damaging |
Het |
Adamts15 |
A |
G |
9: 30,832,863 (GRCm39) |
V224A |
probably damaging |
Het |
Arhgef12 |
G |
T |
9: 42,885,866 (GRCm39) |
D1251E |
possibly damaging |
Het |
Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
Ccdc85c |
G |
A |
12: 108,173,395 (GRCm39) |
R387* |
probably null |
Het |
Cfap57 |
T |
A |
4: 118,456,216 (GRCm39) |
I493F |
probably damaging |
Het |
Chst9 |
A |
G |
18: 15,586,035 (GRCm39) |
I176T |
probably damaging |
Het |
Clpx |
G |
T |
9: 65,234,112 (GRCm39) |
V572L |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,744,873 (GRCm39) |
N1374I |
probably benign |
Het |
Cyp2e1 |
T |
A |
7: 140,350,134 (GRCm39) |
M273K |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,770,061 (GRCm39) |
E414G |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,327,368 (GRCm39) |
F122L |
probably damaging |
Het |
Fcho1 |
A |
G |
8: 72,170,074 (GRCm39) |
|
probably benign |
Het |
Fermt3 |
T |
C |
19: 6,980,631 (GRCm39) |
E312G |
possibly damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
G3bp2 |
G |
A |
5: 92,214,399 (GRCm39) |
R132C |
probably damaging |
Het |
Inpp4b |
A |
T |
8: 82,470,410 (GRCm39) |
I35F |
possibly damaging |
Het |
Izumo3 |
T |
G |
4: 92,033,276 (GRCm39) |
I107L |
probably damaging |
Het |
Lama3 |
C |
A |
18: 12,660,681 (GRCm39) |
Q484K |
possibly damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,828,955 (GRCm39) |
|
probably benign |
Het |
Mast4 |
T |
C |
13: 102,874,163 (GRCm39) |
N1735S |
probably benign |
Het |
Or14a257 |
T |
C |
7: 86,138,402 (GRCm39) |
D119G |
probably damaging |
Het |
Or4c100 |
T |
A |
2: 88,356,488 (GRCm39) |
M187K |
possibly damaging |
Het |
Parp14 |
G |
A |
16: 35,678,823 (GRCm39) |
Q382* |
probably null |
Het |
Pax2 |
A |
G |
19: 44,821,714 (GRCm39) |
|
probably benign |
Het |
Prkaa1 |
T |
C |
15: 5,198,122 (GRCm39) |
V146A |
probably damaging |
Het |
Ptprb |
C |
T |
10: 116,164,032 (GRCm39) |
A900V |
probably benign |
Het |
Rgs6 |
A |
T |
12: 83,099,312 (GRCm39) |
D130V |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,793,457 (GRCm39) |
R1344L |
probably benign |
Het |
Scgb1b12 |
C |
A |
7: 32,033,969 (GRCm39) |
D76E |
possibly damaging |
Het |
Sel1l3 |
T |
A |
5: 53,311,585 (GRCm39) |
E633D |
probably benign |
Het |
Slc1a7 |
T |
A |
4: 107,850,189 (GRCm39) |
I100N |
probably damaging |
Het |
Slc25a35 |
A |
G |
11: 68,859,678 (GRCm39) |
K64E |
possibly damaging |
Het |
Spmip4 |
A |
T |
6: 50,550,853 (GRCm39) |
V532E |
probably damaging |
Het |
Stil |
C |
A |
4: 114,881,612 (GRCm39) |
Q719K |
probably damaging |
Het |
Stim1 |
T |
A |
7: 102,070,562 (GRCm39) |
L265Q |
probably damaging |
Het |
Tmem191 |
A |
G |
16: 17,095,246 (GRCm39) |
E169G |
probably damaging |
Het |
Tmem255b |
T |
C |
8: 13,504,174 (GRCm39) |
L101P |
probably damaging |
Het |
Trgv3 |
C |
A |
13: 19,427,337 (GRCm39) |
Y73* |
probably null |
Het |
Zfyve26 |
G |
A |
12: 79,330,846 (GRCm39) |
Q458* |
probably null |
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 |
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 |
2016-08-02 |