Incidental Mutation 'IGL02570:Acat3'
| ID |
298982 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acat3
|
| Ensembl Gene |
ENSMUSG00000062480 |
| Gene Name |
acetyl-Coenzyme A acetyltransferase 3 |
| Synonyms |
ACTL |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.376)
|
| Stock # |
IGL02570
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
13142720-13159482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13159181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 3
(T3A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007005]
[ENSMUST00000043923]
[ENSMUST00000159697]
[ENSMUST00000160378]
|
| AlphaFold |
Q80X81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007005
|
| SMART Domains |
Protein: ENSMUSP00000007005
Gene: ENSMUSG00000023832
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
8 |
267 |
8e-99 |
PFAM |
|
Pfam:Thiolase_C
|
274 |
396 |
1.8e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043923
AA Change: T3A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
AA Change: T3A
| 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: ENSMUST00000159358
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159697
|
| SMART Domains |
Protein: ENSMUSP00000125066
Gene: ENSMUSG00000023832
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
1 |
235 |
3.9e-91 |
PFAM |
|
Pfam:Thiolase_C
|
242 |
364 |
2.4e-53 |
PFAM |
|
Pfam:ACP_syn_III_C
|
273 |
364 |
9.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160378
AA Change: T3A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
AA Change: T3A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
5 |
248 |
5.6e-91 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
C |
2: 128,487,120 (GRCm39) |
F1087V |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,796,885 (GRCm39) |
T484A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,187,862 (GRCm39) |
|
probably benign |
Het |
| Fscb |
A |
G |
12: 64,518,952 (GRCm39) |
I838T |
unknown |
Het |
| Gdap1 |
A |
G |
1: 17,215,709 (GRCm39) |
Q5R |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,418,390 (GRCm39) |
|
probably benign |
Het |
| Gmfb |
A |
T |
14: 47,054,904 (GRCm39) |
D13E |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,389,605 (GRCm39) |
V250D |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,899,996 (GRCm39) |
D295G |
probably damaging |
Het |
| Igkv1-135 |
A |
T |
6: 67,586,732 (GRCm39) |
M2L |
probably benign |
Het |
| Impdh1 |
T |
C |
6: 29,203,197 (GRCm39) |
Y375C |
probably damaging |
Het |
| Lrpprc |
A |
G |
17: 85,057,981 (GRCm39) |
Y750H |
probably damaging |
Het |
| Mab21l2 |
A |
T |
3: 86,454,531 (GRCm39) |
S156R |
possibly damaging |
Het |
| Map4k4 |
T |
C |
1: 40,019,739 (GRCm39) |
I146T |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,711,074 (GRCm39) |
N80K |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,590,480 (GRCm39) |
F1756L |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,625,019 (GRCm39) |
E1287G |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,724,009 (GRCm39) |
V2647E |
possibly damaging |
Het |
| Rxfp4 |
A |
C |
3: 88,560,149 (GRCm39) |
S101A |
probably damaging |
Het |
| Spag4 |
A |
T |
2: 155,910,364 (GRCm39) |
H330L |
possibly damaging |
Het |
| Spef2 |
G |
A |
15: 9,717,584 (GRCm39) |
R254* |
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Usp16 |
A |
G |
16: 87,277,781 (GRCm39) |
Y677C |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,264,748 (GRCm39) |
W27R |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,646,167 (GRCm39) |
|
probably benign |
Het |
| Zfp935 |
A |
G |
13: 62,604,792 (GRCm39) |
Y29H |
probably damaging |
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 |
|
|
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 |
|
R3758:Acat3
|
UTSW |
17 |
13,146,354 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation