Incidental Mutation 'R4156:Acot12'
| ID |
315554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot12
|
| Ensembl Gene |
ENSMUSG00000021620 |
| Gene Name |
acyl-CoA thioesterase 12 |
| Synonyms |
Cach, 4930449F15Rik, 1300004O04Rik |
| MMRRC Submission |
040862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4156 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
91889635-91934271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91932882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 552
(L552F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022120]
|
| AlphaFold |
Q9DBK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022120
AA Change: L552F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: L552F
| 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: ENSMUST00000159214
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (44/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
| Aff4 |
T |
A |
11: 53,301,726 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,539,725 (GRCm39) |
V750A |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,469,149 (GRCm39) |
|
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Ddx20 |
G |
T |
3: 105,586,249 (GRCm39) |
Q699K |
probably benign |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Etaa1 |
C |
T |
11: 17,890,281 (GRCm39) |
R860Q |
probably damaging |
Het |
| Ffar2 |
T |
A |
7: 30,519,093 (GRCm39) |
Y149F |
probably damaging |
Het |
| Gamt |
T |
A |
10: 80,096,558 (GRCm39) |
R60* |
probably null |
Het |
| Gm6871 |
T |
C |
7: 41,195,510 (GRCm39) |
N302S |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,083,393 (GRCm39) |
S135P |
probably damaging |
Het |
| Ifi203 |
T |
A |
1: 173,764,106 (GRCm39) |
N122I |
probably damaging |
Het |
| Leng9 |
T |
C |
7: 4,152,433 (GRCm39) |
D81G |
possibly damaging |
Het |
| Lrrc23 |
T |
A |
6: 124,747,804 (GRCm39) |
K262* |
probably null |
Het |
| Morc2b |
T |
A |
17: 33,357,401 (GRCm39) |
T124S |
probably benign |
Het |
| Mroh1 |
G |
A |
15: 76,286,326 (GRCm39) |
|
probably null |
Het |
| Naxe |
T |
C |
3: 87,964,011 (GRCm39) |
K240R |
probably benign |
Het |
| Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,920,523 (GRCm39) |
|
probably benign |
Het |
| Or5h18 |
A |
T |
16: 58,847,931 (GRCm39) |
F113Y |
probably damaging |
Het |
| Or8h8 |
T |
C |
2: 86,753,222 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or8j3c |
C |
A |
2: 86,253,544 (GRCm39) |
V159L |
possibly damaging |
Het |
| Papola |
G |
A |
12: 105,767,010 (GRCm39) |
|
probably null |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,056,453 (GRCm39) |
S4517P |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rxfp2 |
G |
A |
5: 149,975,020 (GRCm39) |
V210I |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,484,020 (GRCm39) |
D3909G |
probably damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,852,861 (GRCm39) |
K76N |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tmem54 |
G |
A |
4: 129,004,504 (GRCm39) |
R151Q |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Trim33 |
G |
T |
3: 103,217,630 (GRCm39) |
V192L |
possibly damaging |
Het |
| Trpm5 |
G |
T |
7: 142,642,792 (GRCm39) |
L52I |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,531 (GRCm39) |
T34A |
possibly damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,774,309 (GRCm39) |
K529R |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,743 (GRCm39) |
T302A |
possibly damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,104,177 (GRCm39) |
|
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
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 |
|
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 |
|
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'- GGAAAGACCTCTTCATCTCCCC -3'
(R):5'- GGTTTGGCTCCAAATCACCAG -3'
Sequencing Primer
(F):5'- CATCACAGTCTTATAATGTGTGTCC -3'
(R):5'- GGTTTGGCTCCAAATCACCAGAATAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation