Incidental Mutation 'R6781:Acot12'
| ID |
531430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot12
|
| Ensembl Gene |
ENSMUSG00000021620 |
| Gene Name |
acyl-CoA thioesterase 12 |
| Synonyms |
Cach, 4930449F15Rik, 1300004O04Rik |
| MMRRC Submission |
044895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
91889635-91934271 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 91932531 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 null
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,593,380 (GRCm39) |
I259N |
possibly damaging |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Amigo3 |
T |
C |
9: 107,931,162 (GRCm39) |
L195P |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,284,268 (GRCm39) |
D556V |
probably benign |
Het |
| Arhgef40 |
A |
C |
14: 52,235,354 (GRCm39) |
|
probably benign |
Het |
| Asb15 |
T |
C |
6: 24,558,674 (GRCm39) |
V63A |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,414,664 (GRCm39) |
I459T |
possibly damaging |
Het |
| Bub1 |
C |
A |
2: 127,649,777 (GRCm39) |
G694W |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,961,928 (GRCm39) |
I106N |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,628,562 (GRCm39) |
I382V |
probably benign |
Het |
| Cntnap5a |
A |
C |
1: 116,220,127 (GRCm39) |
S646R |
probably benign |
Het |
| Cntnap5c |
C |
T |
17: 58,445,648 (GRCm39) |
Q563* |
probably null |
Het |
| Cpn1 |
A |
G |
19: 43,969,343 (GRCm39) |
F107L |
possibly damaging |
Het |
| Csrnp3 |
T |
A |
2: 65,852,615 (GRCm39) |
C336S |
probably benign |
Het |
| Defa3 |
T |
A |
8: 21,778,277 (GRCm39) |
M87K |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,124,511 (GRCm39) |
D1110G |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,648,291 (GRCm39) |
F274L |
probably benign |
Het |
| Dnah8 |
TTA |
TTATA |
17: 30,984,698 (GRCm39) |
|
probably null |
Het |
| Dnase2b |
T |
C |
3: 146,288,126 (GRCm39) |
H323R |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,371,571 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,158,958 (GRCm39) |
N2269S |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,590,043 (GRCm39) |
M59K |
possibly damaging |
Het |
| Fpr3 |
T |
C |
17: 18,190,978 (GRCm39) |
V83A |
probably benign |
Het |
| Frmd6 |
A |
G |
12: 70,946,417 (GRCm39) |
D615G |
possibly damaging |
Het |
| Gfra3 |
T |
C |
18: 34,844,375 (GRCm39) |
K55R |
possibly damaging |
Het |
| Gm5414 |
A |
T |
15: 101,534,096 (GRCm39) |
S296T |
possibly damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,258,369 (GRCm39) |
K1234* |
probably null |
Het |
| Hltf |
T |
A |
3: 20,152,330 (GRCm39) |
Y609N |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ift74 |
A |
G |
4: 94,515,539 (GRCm39) |
D152G |
probably damaging |
Het |
| Kcnk6 |
T |
C |
7: 28,924,480 (GRCm39) |
Y308C |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,141,347 (GRCm39) |
S546P |
probably damaging |
Het |
| Map7d1 |
AGGGCAGCC |
AGGGCAGCCGGGCAGCC |
4: 126,134,544 (GRCm39) |
|
probably null |
Het |
| Meis2 |
T |
A |
2: 115,879,636 (GRCm39) |
H228L |
probably benign |
Het |
| Mfsd10 |
A |
T |
5: 34,791,853 (GRCm39) |
M344K |
possibly damaging |
Het |
| Mrps33 |
T |
C |
6: 39,782,757 (GRCm39) |
|
probably benign |
Het |
| Or2a52 |
A |
G |
6: 43,144,322 (GRCm39) |
E110G |
probably damaging |
Het |
| Or4p23 |
A |
T |
2: 88,577,174 (GRCm39) |
N19K |
probably benign |
Het |
| Pik3cb |
T |
C |
9: 98,923,045 (GRCm39) |
T996A |
possibly damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,090 (GRCm39) |
|
probably null |
Het |
| Ppp1cb |
A |
G |
5: 32,638,106 (GRCm39) |
Y86C |
probably damaging |
Het |
| Sass6 |
T |
G |
3: 116,388,773 (GRCm39) |
|
probably benign |
Het |
| Slc6a15 |
A |
T |
10: 103,230,928 (GRCm39) |
I218F |
probably damaging |
Het |
| Tcf23 |
C |
T |
5: 31,126,304 (GRCm39) |
P61L |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zc3h6 |
T |
C |
2: 128,857,341 (GRCm39) |
F620S |
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 |
|
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 |
|
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'- CAACCATTCCTACAGAGTTAGAACG -3'
(R):5'- GGTACGTTACCTGCATCAAAGAG -3'
Sequencing Primer
(F):5'- AACGTGTGTTCTTACCTTTCAGCAAC -3'
(R):5'- TTGACTTGGAGAACTTTCAAGTAAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation