Incidental Mutation 'IGL01114:Acot12'
| ID |
52581 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acot12
|
| Ensembl Gene |
ENSMUSG00000021620 |
| Gene Name |
acyl-CoA thioesterase 12 |
| Synonyms |
Cach, 4930449F15Rik, 1300004O04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL01114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
91889635-91934271 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 91905711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022120]
|
| AlphaFold |
Q9DBK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022120
|
| SMART Domains |
Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
25 |
97 |
4.2e-12 |
PFAM |
|
Pfam:4HBT
|
198 |
275 |
2.5e-14 |
PFAM |
|
low complexity region
|
317 |
328 |
N/A |
INTRINSIC |
|
Pfam:START
|
350 |
515 |
1.5e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161337
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700101I19Rik |
T |
C |
1: 34,618,370 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
G |
7: 119,960,643 (GRCm39) |
Y702D |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,754,088 (GRCm39) |
K1576R |
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,895,202 (GRCm39) |
I1098V |
probably benign |
Het |
| Adcy6 |
C |
T |
15: 98,496,857 (GRCm39) |
V471M |
probably damaging |
Het |
| Ccdc170 |
C |
A |
10: 4,508,550 (GRCm39) |
D591E |
probably benign |
Het |
| Corin |
A |
C |
5: 72,462,354 (GRCm39) |
D826E |
probably damaging |
Het |
| Cpsf2 |
T |
G |
12: 101,956,098 (GRCm39) |
N300K |
possibly damaging |
Het |
| Csmd2 |
C |
T |
4: 128,262,923 (GRCm39) |
T703I |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,041,139 (GRCm39) |
L187Q |
probably damaging |
Het |
| D430041D05Rik |
G |
T |
2: 104,088,511 (GRCm39) |
S155* |
probably null |
Het |
| Dmrtc2 |
C |
T |
7: 24,572,001 (GRCm39) |
P32L |
probably damaging |
Het |
| Dsel |
G |
A |
1: 111,787,791 (GRCm39) |
R915* |
probably null |
Het |
| Fam124b |
T |
C |
1: 80,190,852 (GRCm39) |
Y177C |
possibly damaging |
Het |
| Fam171b |
G |
A |
2: 83,707,072 (GRCm39) |
W314* |
probably null |
Het |
| Gpn1 |
G |
T |
5: 31,655,745 (GRCm39) |
D103Y |
probably damaging |
Het |
| Gpr89 |
A |
T |
3: 96,800,865 (GRCm39) |
F88I |
probably damaging |
Het |
| Ifi27l2a |
T |
C |
12: 103,403,792 (GRCm39) |
|
probably benign |
Het |
| Kdm4d |
A |
G |
9: 14,375,493 (GRCm39) |
Y122H |
probably damaging |
Het |
| Oas1d |
G |
A |
5: 121,054,907 (GRCm39) |
V160I |
probably benign |
Het |
| Or5b108 |
A |
G |
19: 13,168,598 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or7e170 |
A |
T |
9: 19,794,844 (GRCm39) |
Y252* |
probably null |
Het |
| Poglut3 |
T |
C |
9: 53,299,879 (GRCm39) |
|
probably null |
Het |
| Rrp1b |
C |
T |
17: 32,271,793 (GRCm39) |
P288S |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,133 (GRCm39) |
K360R |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,781,498 (GRCm39) |
D818G |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,934,213 (GRCm39) |
D1291G |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,088,096 (GRCm39) |
V814M |
probably damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,592,196 (GRCm39) |
V17A |
probably benign |
Het |
|
| Other mutations in Acot12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Acot12
|
APN |
13 |
91,929,330 (GRCm39) |
nonsense |
probably null |
|
|
IGL01376:Acot12
|
APN |
13 |
91,932,790 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01474:Acot12
|
APN |
13 |
91,920,902 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02206:Acot12
|
APN |
13 |
91,908,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02999:Acot12
|
APN |
13 |
91,908,100 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03237:Acot12
|
APN |
13 |
91,929,388 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0071:Acot12
|
UTSW |
13 |
91,929,293 (GRCm39) |
splice site |
probably benign |
|
|
R0092:Acot12
|
UTSW |
13 |
91,889,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Acot12
|
UTSW |
13 |
91,919,947 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0331:Acot12
|
UTSW |
13 |
91,908,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0525:Acot12
|
UTSW |
13 |
91,908,186 (GRCm39) |
splice site |
probably benign |
|
|
R0544:Acot12
|
UTSW |
13 |
91,932,775 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1509:Acot12
|
UTSW |
13 |
91,919,994 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1616:Acot12
|
UTSW |
13 |
91,920,886 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1773:Acot12
|
UTSW |
13 |
91,905,676 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1897:Acot12
|
UTSW |
13 |
91,932,516 (GRCm39) |
missense |
probably benign |
|
|
R2047:Acot12
|
UTSW |
13 |
91,931,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Acot12
|
UTSW |
13 |
91,908,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3730:Acot12
|
UTSW |
13 |
91,908,145 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3735:Acot12
|
UTSW |
13 |
91,932,465 (GRCm39) |
missense |
probably benign |
|
|
R3736:Acot12
|
UTSW |
13 |
91,932,465 (GRCm39) |
missense |
probably benign |
|
|
R3912:Acot12
|
UTSW |
13 |
91,918,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4156:Acot12
|
UTSW |
13 |
91,932,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4418:Acot12
|
UTSW |
13 |
91,932,524 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4879:Acot12
|
UTSW |
13 |
91,911,083 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5456:Acot12
|
UTSW |
13 |
91,889,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Acot12
|
UTSW |
13 |
91,929,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5601:Acot12
|
UTSW |
13 |
91,931,029 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5998:Acot12
|
UTSW |
13 |
91,905,653 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6781:Acot12
|
UTSW |
13 |
91,932,531 (GRCm39) |
splice site |
probably null |
|
|
R7208:Acot12
|
UTSW |
13 |
91,929,361 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7330:Acot12
|
UTSW |
13 |
91,889,651 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
R7560:Acot12
|
UTSW |
13 |
91,932,510 (GRCm39) |
missense |
probably benign |
|
|
R7561:Acot12
|
UTSW |
13 |
91,918,243 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7869:Acot12
|
UTSW |
13 |
91,919,844 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9377:Acot12
|
UTSW |
13 |
91,918,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9411:Acot12
|
UTSW |
13 |
91,919,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Acot12
|
UTSW |
13 |
91,931,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0050:Acot12
|
UTSW |
13 |
91,919,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation