Incidental Mutation 'IGL02999:Acot12'
| ID |
407231 |
| 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 # |
IGL02999
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
91889635-91934271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91908100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 94
(V94D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022120]
|
| AlphaFold |
Q9DBK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022120
AA Change: V94D
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: V94D
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,424 (GRCm39) |
R297S |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
| Camk1d |
C |
A |
2: 5,359,516 (GRCm39) |
V177L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,538 (GRCm39) |
I322V |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
| Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
| Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
| Ggt7 |
C |
A |
2: 155,344,633 (GRCm39) |
V237L |
probably benign |
Het |
| Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,370,239 (GRCm39) |
L259P |
probably damaging |
Het |
| Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
| Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
| Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
| Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
| Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
| Ptpn2 |
A |
G |
18: 67,814,580 (GRCm39) |
V143A |
probably damaging |
Het |
| Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,749,697 (GRCm39) |
F74I |
possibly damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,072,724 (GRCm39) |
E637G |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,344,995 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
| Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,946,816 (GRCm39) |
V263A |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
probably damaging |
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 |
|
|
IGL01114:Acot12
|
APN |
13 |
91,905,711 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation