Incidental Mutation 'IGL02587:Acot10'
| ID |
299575 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acot10
|
| Ensembl Gene |
ENSMUSG00000047565 |
| Gene Name |
acyl-CoA thioesterase 10 |
| Synonyms |
p48, MT-ACT48, Acate3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
IGL02587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
20665300-20666836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20665883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 286
(V286E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052910]
|
| AlphaFold |
Q32MW3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052910
AA Change: V286E
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051333
Gene: ENSMUSG00000047565
AA Change: V286E
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
G |
A |
4: 144,429,969 (GRCm39) |
T340I |
possibly damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,831,130 (GRCm39) |
L232P |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,096,134 (GRCm39) |
N104S |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,921,510 (GRCm39) |
E550G |
possibly damaging |
Het |
| Cfhr4 |
G |
A |
1: 139,629,668 (GRCm39) |
T712I |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,287 (GRCm39) |
N141K |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,587,851 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,734,236 (GRCm39) |
E1168G |
possibly damaging |
Het |
| Fbxo48 |
T |
C |
11: 16,903,659 (GRCm39) |
I95T |
probably benign |
Het |
| Fpr3 |
A |
T |
17: 18,190,953 (GRCm39) |
T75S |
probably benign |
Het |
| Gm5145 |
A |
G |
17: 20,791,452 (GRCm39) |
K277E |
probably damaging |
Het |
| Gnao1 |
A |
G |
8: 94,677,067 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
G |
A |
15: 101,907,367 (GRCm39) |
R239C |
probably benign |
Het |
| Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
| Neil1 |
C |
T |
9: 57,052,263 (GRCm39) |
R195H |
probably damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
A |
16: 17,135,217 (GRCm39) |
G946W |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,284,852 (GRCm39) |
N159I |
possibly damaging |
Het |
| Rad54l |
A |
G |
4: 115,962,994 (GRCm39) |
Y335H |
probably damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,675,684 (GRCm39) |
R159H |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,634,750 (GRCm39) |
D357G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Timeless |
A |
G |
10: 128,075,785 (GRCm39) |
M6V |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,281,636 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
C |
A |
17: 33,519,624 (GRCm39) |
Q31K |
probably damaging |
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 |
|
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 |
|
R9195:Acot10
|
UTSW |
15 |
20,665,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation