Incidental Mutation 'R4464:Acot10'
| ID |
330284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot10
|
| Ensembl Gene |
ENSMUSG00000047565 |
| Gene Name |
acyl-CoA thioesterase 10 |
| Synonyms |
p48, MT-ACT48, Acate3 |
| MMRRC Submission |
041722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R4464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
20665300-20666836 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 20665830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 304
(R304*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052910]
|
| AlphaFold |
Q32MW3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052910
AA Change: R304*
|
| SMART Domains |
Protein: ENSMUSP00000051333
Gene: ENSMUSG00000047565
AA Change: R304*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lo7a_
|
108 |
222 |
1e-4 |
SMART |
|
PDB:4IEN|D
|
277 |
400 |
3e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228652
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
| Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
| Asnsd1 |
C |
A |
1: 53,391,686 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
| Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
| Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
| Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
| Krt86 |
G |
A |
15: 101,371,795 (GRCm39) |
D122N |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
| Or12d17 |
C |
T |
17: 37,777,742 (GRCm39) |
S215F |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,575 (GRCm39) |
N362Y |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,731 (GRCm39) |
N52S |
possibly damaging |
Het |
| Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,226,524 (GRCm39) |
L490P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,694,134 (GRCm39) |
N207D |
probably benign |
Het |
| Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
| Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
probably benign |
Het |
|
| Other mutations in Acot10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Acot10
|
APN |
15 |
20,666,051 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01610:Acot10
|
APN |
15 |
20,665,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Acot10
|
APN |
15 |
20,666,229 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02587:Acot10
|
APN |
15 |
20,665,883 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02951:Acot10
|
APN |
15 |
20,665,868 (GRCm39) |
missense |
probably benign |
0.36 |
|
ANU23:Acot10
|
UTSW |
15 |
20,666,051 (GRCm39) |
missense |
probably benign |
0.11 |
|
PIT4151001:Acot10
|
UTSW |
15 |
20,666,684 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0026:Acot10
|
UTSW |
15 |
20,666,322 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0026:Acot10
|
UTSW |
15 |
20,666,322 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0462:Acot10
|
UTSW |
15 |
20,666,712 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1312:Acot10
|
UTSW |
15 |
20,666,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1495:Acot10
|
UTSW |
15 |
20,665,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2128:Acot10
|
UTSW |
15 |
20,666,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3779:Acot10
|
UTSW |
15 |
20,665,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4110:Acot10
|
UTSW |
15 |
20,666,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4111:Acot10
|
UTSW |
15 |
20,666,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Acot10
|
UTSW |
15 |
20,666,028 (GRCm39) |
missense |
probably benign |
|
|
R4933:Acot10
|
UTSW |
15 |
20,666,416 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5255:Acot10
|
UTSW |
15 |
20,666,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5885:Acot10
|
UTSW |
15 |
20,666,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6190:Acot10
|
UTSW |
15 |
20,665,871 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6301:Acot10
|
UTSW |
15 |
20,666,348 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6805:Acot10
|
UTSW |
15 |
20,665,452 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7334:Acot10
|
UTSW |
15 |
20,665,629 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7601:Acot10
|
UTSW |
15 |
20,665,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8400:Acot10
|
UTSW |
15 |
20,666,258 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9195:Acot10
|
UTSW |
15 |
20,665,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGTCAAGAGAGAACACTTCAC -3'
(R):5'- TTACTGAAAGTGGCTCCCAG -3'
Sequencing Primer
(F):5'- ATTACCCTGGGTGAAGCATACCTG -3'
(R):5'- ACTGAAAGTGGCTCCCAGTTCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation