Incidental Mutation 'R3730:Acot12'
| ID |
270943 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3730 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
91889635-91934271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91908145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 109
(F109Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022120]
|
| AlphaFold |
Q9DBK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022120
AA Change: F109Y
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: F109Y
| 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 |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,615,450 (GRCm39) |
N141S |
probably damaging |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Adamts19 |
G |
A |
18: 59,033,982 (GRCm39) |
R319Q |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,008 (GRCm39) |
E218G |
possibly damaging |
Het |
| Atg4b |
T |
A |
1: 93,695,997 (GRCm39) |
D45E |
probably damaging |
Het |
| Atoh1 |
A |
G |
6: 64,706,557 (GRCm39) |
E84G |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,803,481 (GRCm39) |
Y838C |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,464,631 (GRCm39) |
I1280L |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,847,335 (GRCm39) |
Y951* |
probably null |
Het |
| Col4a4 |
T |
A |
1: 82,433,472 (GRCm39) |
|
probably null |
Het |
| Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
| Cyp3a25 |
G |
A |
5: 145,939,891 (GRCm39) |
P39S |
probably damaging |
Het |
| Dhx9 |
C |
A |
1: 153,353,866 (GRCm39) |
A186S |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,695,824 (GRCm39) |
S336P |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,784,882 (GRCm39) |
V314A |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,162 (GRCm39) |
I157T |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,545 (GRCm39) |
T1613S |
probably damaging |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,751,359 (GRCm39) |
S1576T |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,198,321 (GRCm39) |
T555A |
possibly damaging |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,938,606 (GRCm39) |
E766G |
probably damaging |
Het |
| Ldlr |
C |
G |
9: 21,643,097 (GRCm39) |
A41G |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
| Mapk11 |
G |
A |
15: 89,029,318 (GRCm39) |
A248V |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Npr2 |
T |
C |
4: 43,640,999 (GRCm39) |
S402P |
possibly damaging |
Het |
| Olfm2 |
T |
C |
9: 20,584,063 (GRCm39) |
N76D |
probably damaging |
Het |
| Or7g33 |
T |
A |
9: 19,448,447 (GRCm39) |
I260F |
probably benign |
Het |
| Or8k3 |
A |
G |
2: 86,059,195 (GRCm39) |
I40T |
probably benign |
Het |
| Pias4 |
A |
T |
10: 80,999,888 (GRCm39) |
F55Y |
probably damaging |
Het |
| Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
| Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc35e4 |
A |
G |
11: 3,862,577 (GRCm39) |
V204A |
possibly damaging |
Het |
| Syt4 |
T |
C |
18: 31,577,189 (GRCm39) |
H55R |
probably damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Usf3 |
G |
T |
16: 44,038,938 (GRCm39) |
L1139F |
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,866,729 (GRCm39) |
M100L |
probably benign |
Het |
| Zbtb33 |
C |
A |
X: 37,281,822 (GRCm39) |
N243K |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGAGATAGTAGTGTCACAGAG -3'
(R):5'- AGGTATTGCTCTCACAAGATGTTC -3'
Sequencing Primer
(F):5'- TCAGGATGACTGACGGTT -3'
(R):5'- TGTTCAGTTCTATTATGTCAACACAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation