Incidental Mutation 'IGL01504:Acot6'
| ID |
88978 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acot6
|
| Ensembl Gene |
ENSMUSG00000043487 |
| Gene Name |
acyl-CoA thioesterase 6 |
| Synonyms |
4632408A20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84147538-84158128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84156176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 375
(V375M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046340]
[ENSMUST00000056822]
[ENSMUST00000123491]
[ENSMUST00000136159]
[ENSMUST00000156138]
[ENSMUST00000222921]
|
| AlphaFold |
Q32Q92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046340
|
| SMART Domains |
Protein: ENSMUSP00000037076
Gene: ENSMUSG00000042523
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_1
|
32 |
52 |
8.1e-2 |
PFAM |
|
Pfam:LRR_4
|
54 |
96 |
3.4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056822
AA Change: V375M
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000056131
Gene: ENSMUSG00000043487
AA Change: V375M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bile_Hydr_Trans
|
16 |
141 |
1.5e-45 |
PFAM |
|
Pfam:BAAT_C
|
203 |
410 |
4.1e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123491
|
| SMART Domains |
Protein: ENSMUSP00000121038
Gene: ENSMUSG00000042523
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_4
|
93 |
135 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136159
|
| SMART Domains |
Protein: ENSMUSP00000123497
Gene: ENSMUSG00000042523
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DS9|A
|
1 |
98 |
3e-28 |
PDB |
|
SCOP:d1h6ta2
|
11 |
88 |
5e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143753
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156138
|
| SMART Domains |
Protein: ENSMUSP00000118584
Gene: ENSMUSG00000042523
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1M9L|A
|
1 |
50 |
1e-11 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222921
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,284,231 (GRCm39) |
I326N |
probably damaging |
Het |
| Als2cl |
G |
A |
9: 110,718,351 (GRCm39) |
R364Q |
probably benign |
Het |
| Cpa1 |
A |
T |
6: 30,640,720 (GRCm39) |
T121S |
probably benign |
Het |
| Ctnnbl1 |
A |
G |
2: 157,660,036 (GRCm39) |
|
probably benign |
Het |
| Frrs1 |
C |
A |
3: 116,694,307 (GRCm39) |
Q76K |
probably damaging |
Het |
| Gja10 |
T |
A |
4: 32,602,375 (GRCm39) |
D3V |
probably damaging |
Het |
| Insyn2a |
T |
A |
7: 134,519,669 (GRCm39) |
Q287L |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,796,608 (GRCm39) |
E400G |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,982,505 (GRCm39) |
T47A |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,709,080 (GRCm39) |
K336R |
probably benign |
Het |
| Ndrg4 |
C |
A |
8: 96,432,894 (GRCm39) |
L34I |
probably damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,469,540 (GRCm39) |
H148Q |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,085,528 (GRCm39) |
H89R |
probably damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,724,160 (GRCm39) |
N266D |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,472,189 (GRCm39) |
S129P |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,202,612 (GRCm39) |
E1659G |
probably damaging |
Het |
| Trpa1 |
T |
G |
1: 14,952,443 (GRCm39) |
I863L |
possibly damaging |
Het |
| Vmn1r177 |
C |
T |
7: 23,565,835 (GRCm39) |
V14M |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,285 (GRCm39) |
M96K |
probably benign |
Het |
| Zp1 |
C |
T |
19: 10,896,375 (GRCm39) |
V117M |
probably damaging |
Het |
|
| Other mutations in Acot6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Acot6
|
APN |
12 |
84,156,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00901:Acot6
|
APN |
12 |
84,153,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01364:Acot6
|
APN |
12 |
84,147,840 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01707:Acot6
|
APN |
12 |
84,147,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0323:Acot6
|
UTSW |
12 |
84,155,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0531:Acot6
|
UTSW |
12 |
84,148,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1640:Acot6
|
UTSW |
12 |
84,147,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Acot6
|
UTSW |
12 |
84,153,367 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2876:Acot6
|
UTSW |
12 |
84,148,036 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4989:Acot6
|
UTSW |
12 |
84,155,789 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6365:Acot6
|
UTSW |
12 |
84,156,186 (GRCm39) |
missense |
probably benign |
|
|
R6995:Acot6
|
UTSW |
12 |
84,156,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7204:Acot6
|
UTSW |
12 |
84,153,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7657:Acot6
|
UTSW |
12 |
84,153,304 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8465:Acot6
|
UTSW |
12 |
84,153,215 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9154:Acot6
|
UTSW |
12 |
84,147,789 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9208:Acot6
|
UTSW |
12 |
84,153,358 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9259:Acot6
|
UTSW |
12 |
84,155,816 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2013-12-03 |
Incidental Mutation