Incidental Mutation 'R3758:Acat3'
| ID |
271537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acat3
|
| Ensembl Gene |
ENSMUSG00000062480 |
| Gene Name |
acetyl-Coenzyme A acetyltransferase 3 |
| Synonyms |
ACTL |
| MMRRC Submission |
040739-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R3758 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13142720-13159482 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 13146354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043923]
[ENSMUST00000089024]
[ENSMUST00000151287]
[ENSMUST00000160378]
|
| AlphaFold |
Q80X81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043923
|
| SMART Domains |
Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
8 |
267 |
2.9e-97 |
PFAM |
|
Pfam:Thiolase_C
|
274 |
396 |
1.3e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082703
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089024
|
| SMART Domains |
Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
1 |
486 |
1.9e-132 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138709
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151287
|
| SMART Domains |
Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
28 |
535 |
6.3e-156 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160378
|
| SMART Domains |
Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
5 |
248 |
5.6e-91 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160921
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
93% (28/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcat1 |
T |
A |
6: 144,978,598 (GRCm39) |
I208F |
probably damaging |
Het |
| Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
| Cd200r3 |
T |
G |
16: 44,784,991 (GRCm39) |
|
probably null |
Het |
| Coq8b |
C |
T |
7: 26,941,652 (GRCm39) |
Q246* |
probably null |
Het |
| Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,233,363 (GRCm39) |
S616P |
probably damaging |
Het |
| Fkbp10 |
G |
A |
11: 100,313,451 (GRCm39) |
|
probably null |
Het |
| Gabra1 |
G |
T |
11: 42,066,763 (GRCm39) |
D50E |
probably benign |
Het |
| H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,406 (GRCm39) |
N103S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,053,314 (GRCm39) |
H2549R |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,602 (GRCm39) |
N706D |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,996,628 (GRCm39) |
|
probably null |
Het |
| Mtcl2 |
T |
C |
2: 156,862,558 (GRCm39) |
N1457S |
possibly damaging |
Het |
| Nipa2 |
T |
C |
7: 55,585,689 (GRCm39) |
Y102C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,631,641 (GRCm39) |
C32* |
probably null |
Het |
| Or11h6 |
A |
G |
14: 50,880,493 (GRCm39) |
K252E |
possibly damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,916 (GRCm39) |
F105L |
probably benign |
Het |
| Or52r1b |
A |
G |
7: 102,691,177 (GRCm39) |
S159G |
probably benign |
Het |
| Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,476,079 (GRCm39) |
D405G |
possibly damaging |
Het |
| Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,219,571 (GRCm39) |
Y166C |
probably damaging |
Het |
| Sprr1a |
T |
G |
3: 92,391,704 (GRCm39) |
K99T |
probably damaging |
Het |
| Spsb4 |
A |
G |
9: 96,877,924 (GRCm39) |
V133A |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,915,768 (GRCm39) |
T391A |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,035 (GRCm39) |
E447G |
probably damaging |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
Het |
|
| Other mutations in Acat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02049:Acat3
|
APN |
17 |
13,144,207 (GRCm39) |
missense |
probably benign |
|
|
IGL02570:Acat3
|
APN |
17 |
13,159,181 (GRCm39) |
missense |
probably benign |
|
|
R1340:Acat3
|
UTSW |
17 |
13,148,564 (GRCm39) |
splice site |
probably benign |
|
|
R1747:Acat3
|
UTSW |
17 |
13,143,695 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1839:Acat3
|
UTSW |
17 |
13,147,493 (GRCm39) |
nonsense |
probably null |
|
|
R2126:Acat3
|
UTSW |
17 |
13,146,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3790:Acat3
|
UTSW |
17 |
13,147,460 (GRCm39) |
nonsense |
probably null |
|
|
R4206:Acat3
|
UTSW |
17 |
13,146,273 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8714:Acat3
|
UTSW |
17 |
13,147,516 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8931:Acat3
|
UTSW |
17 |
13,147,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Acat3
|
UTSW |
17 |
13,143,716 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9053:Acat3
|
UTSW |
17 |
13,147,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9060:Acat3
|
UTSW |
17 |
13,145,293 (GRCm39) |
missense |
|
|
|
R9133:Acat3
|
UTSW |
17 |
13,159,176 (GRCm39) |
missense |
probably benign |
|
|
R9292:Acat3
|
UTSW |
17 |
13,146,255 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9615:Acat3
|
UTSW |
17 |
13,147,502 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Acat3
|
UTSW |
17 |
13,153,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAGAGTTGGTATTTCCCC -3'
(R):5'- CAAAGAGCTGCTGTCCTTAGG -3'
Sequencing Primer
(F):5'- ACAGAGTTGGTATTTCCCCCAGTG -3'
(R):5'- CACAGGGTGAGCGACTCATG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation