Incidental Mutation 'R9195:Acot10'
| ID |
697919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot10
|
| Ensembl Gene |
ENSMUSG00000047565 |
| Gene Name |
acyl-CoA thioesterase 10 |
| Synonyms |
p48, MT-ACT48, Acate3 |
| MMRRC Submission |
068954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R9195 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
20665300-20666836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 20665517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Arginine
at position 408
(T408R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052910]
|
| AlphaFold |
Q32MW3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052910
AA Change: T408R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051333
Gene: ENSMUSG00000047565
AA Change: T408R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lo7a_
|
108 |
222 |
1e-4 |
SMART |
|
PDB:4IEN|D
|
277 |
400 |
3e-6 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,283,479 (GRCm39) |
Y1310C |
|
Het |
| Atp6v1c1 |
T |
A |
15: 38,674,198 (GRCm39) |
F64I |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,167,337 (GRCm39) |
E1246G |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,463,418 (GRCm39) |
S1061T |
possibly damaging |
Het |
| Brd10 |
A |
G |
19: 29,763,703 (GRCm39) |
I124T |
|
Het |
| Cep83 |
A |
G |
10: 94,604,801 (GRCm39) |
R505G |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,671,045 (GRCm39) |
E382G |
probably benign |
Het |
| Cnksr3 |
A |
T |
10: 7,088,379 (GRCm39) |
H235Q |
probably damaging |
Het |
| Ctsh |
A |
T |
9: 89,944,815 (GRCm39) |
H90L |
probably benign |
Het |
| Cybrd1 |
G |
A |
2: 70,968,742 (GRCm39) |
G205D |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,161,455 (GRCm39) |
I345N |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,525,446 (GRCm39) |
L67P |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,018,836 (GRCm39) |
N612S |
probably benign |
Het |
| Gm8186 |
T |
A |
17: 26,318,092 (GRCm39) |
D35V |
probably damaging |
Het |
| Ighv1-15 |
T |
C |
12: 114,621,139 (GRCm39) |
H62R |
probably benign |
Het |
| Kcns1 |
A |
T |
2: 164,009,778 (GRCm39) |
L327Q |
probably damaging |
Het |
| Lbr |
T |
C |
1: 181,663,837 (GRCm39) |
K61R |
probably benign |
Het |
| Mrpl36 |
G |
A |
13: 73,479,498 (GRCm39) |
A3T |
unknown |
Het |
| Nectin3 |
G |
A |
16: 46,279,259 (GRCm39) |
R240* |
probably null |
Het |
| Nek10 |
T |
C |
14: 14,821,139 (GRCm38) |
L35P |
probably benign |
Het |
| Nr1d1 |
A |
G |
11: 98,659,883 (GRCm39) |
V547A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,942,040 (GRCm39) |
I4445N |
probably damaging |
Het |
| Or51i2 |
T |
C |
7: 103,689,345 (GRCm39) |
I114T |
probably damaging |
Het |
| Pcdhgb1 |
T |
G |
18: 37,814,157 (GRCm39) |
V216G |
probably damaging |
Het |
| Pklr |
T |
C |
3: 89,048,636 (GRCm39) |
S100P |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,089,975 (GRCm39) |
S70T |
probably benign |
Het |
| Rec114 |
T |
G |
9: 58,567,534 (GRCm39) |
T151P |
probably benign |
Het |
| Riok3 |
TTTCATT |
TTT |
18: 12,282,642 (GRCm39) |
|
probably null |
Het |
| Slc33a1 |
A |
G |
3: 63,871,188 (GRCm39) |
S142P |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,281,055 (GRCm39) |
N407K |
possibly damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,898,149 (GRCm39) |
C522R |
probably damaging |
Het |
| Tcim |
A |
T |
8: 24,928,878 (GRCm39) |
M12K |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,542,126 (GRCm39) |
Y1917N |
probably damaging |
Het |
| Ttll1 |
A |
G |
15: 83,373,779 (GRCm39) |
Y345H |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,589,638 (GRCm39) |
V381A |
probably benign |
Het |
| Wnt16 |
T |
C |
6: 22,297,932 (GRCm39) |
M266T |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,311,168 (GRCm39) |
I1562V |
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 |
|
R4464:Acot10
|
UTSW |
15 |
20,665,830 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAAATTTGTGAACAGGTTC -3'
(R):5'- AGAAGCCTGTTGAAGTTGGTTC -3'
Sequencing Primer
(F):5'- GTGAACAGGTTCTTAAAATTCCATG -3'
(R):5'- AAGCCTGTTGAAGTTGGTTCATTGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation