Incidental Mutation 'R3691:Oxct1'
| ID |
268798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxct1
|
| Ensembl Gene |
ENSMUSG00000022186 |
| Gene Name |
3-oxoacid CoA transferase 1 |
| Synonyms |
Scot-s, 2610008O03Rik |
| MMRRC Submission |
040686-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3691 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
4055910-4184826 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4076999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 111
(M111V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110690]
[ENSMUST00000138927]
|
| AlphaFold |
Q9D0K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110690
AA Change: M111V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: M111V
| 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 benign
Transcript: ENSMUST00000138927
AA Change: M111V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: M111V
| 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 |
|
| Meta Mutation Damage Score |
0.0807 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (34/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,737,883 (GRCm39) |
F171L |
probably benign |
Het |
| Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,758,419 (GRCm39) |
S254P |
probably damaging |
Het |
| Cfap43 |
G |
A |
19: 47,885,512 (GRCm39) |
L368F |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
| Drosha |
G |
A |
15: 12,834,724 (GRCm39) |
R276H |
unknown |
Het |
| Efr3b |
T |
A |
12: 4,032,059 (GRCm39) |
D183V |
possibly damaging |
Het |
| Epha1 |
T |
C |
6: 42,338,064 (GRCm39) |
T794A |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,887 (GRCm39) |
V281I |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,610,583 (GRCm39) |
Y571C |
probably benign |
Het |
| Flywch1 |
G |
A |
17: 23,982,186 (GRCm39) |
P6L |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,929,371 (GRCm39) |
T3925I |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,011,149 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
T |
G |
11: 121,796,751 (GRCm39) |
Q366P |
possibly damaging |
Het |
| Gm3248 |
A |
G |
14: 5,943,068 (GRCm38) |
I161T |
probably damaging |
Het |
| Gzmg |
T |
A |
14: 56,395,134 (GRCm39) |
|
probably benign |
Het |
| Lrrc69 |
A |
T |
4: 14,795,980 (GRCm39) |
N22K |
possibly damaging |
Het |
| Med13l |
A |
G |
5: 118,859,562 (GRCm39) |
R250G |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mxi1 |
T |
C |
19: 53,358,062 (GRCm39) |
L73P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,248,514 (GRCm39) |
F39L |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,620,493 (GRCm39) |
D771G |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,668 (GRCm39) |
D27G |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,146,797 (GRCm39) |
F523S |
probably benign |
Het |
| Zan |
A |
G |
5: 137,418,281 (GRCm39) |
I2939T |
unknown |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,595 (GRCm39) |
T1522A |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTGTGAGGTCTTGCAG -3'
(R):5'- TGGACCAAATACCATCTCTCTGTC -3'
Sequencing Primer
(F):5'- AGGTCTTGCAGTGGTGAGG -3'
(R):5'- CCAAATACCATCTCTCTGTCTTAAAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation