Incidental Mutation 'IGL00910:Aacs'
| ID |
27398 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aacs
|
| Ensembl Gene |
ENSMUSG00000029482 |
| Gene Name |
acetoacetyl-CoA synthetase |
| Synonyms |
2210408B16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.633)
|
| Stock # |
IGL00910
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
125552937-125594469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125585772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 316
(M316K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031445]
|
| AlphaFold |
Q9D2R0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031445
AA Change: M316K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: M316K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACAS_N
|
47 |
105 |
1.1e-11 |
PFAM |
|
Pfam:AMP-binding
|
103 |
546 |
1.7e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199978
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
G |
15: 84,840,020 (GRCm39) |
L109P |
probably damaging |
Het |
| Adarb2 |
T |
C |
13: 8,722,469 (GRCm39) |
V375A |
probably damaging |
Het |
| Adgra2 |
C |
A |
8: 27,576,011 (GRCm39) |
A13E |
possibly damaging |
Het |
| Ankrd34c |
A |
T |
9: 89,611,079 (GRCm39) |
S421T |
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,832,386 (GRCm39) |
M298L |
probably benign |
Het |
| Casq2 |
T |
C |
3: 102,017,547 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,406,395 (GRCm39) |
T762A |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 110,285,666 (GRCm39) |
V389A |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,105,889 (GRCm39) |
|
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,490,017 (GRCm39) |
F79L |
possibly damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,064,073 (GRCm39) |
I3T |
possibly damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,926,833 (GRCm39) |
I641T |
probably benign |
Het |
| Furin |
A |
G |
7: 80,040,744 (GRCm39) |
V698A |
probably benign |
Het |
| Lratd1 |
T |
C |
12: 14,200,527 (GRCm39) |
S67G |
probably benign |
Het |
| Prl2c5 |
G |
A |
13: 13,364,061 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,559,279 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,618,224 (GRCm39) |
|
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,722,728 (GRCm39) |
Y575C |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,887 (GRCm39) |
E19G |
probably damaging |
Het |
| Tsfm |
G |
T |
10: 126,864,228 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Aacs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Aacs
|
APN |
5 |
125,591,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00155:Aacs
|
APN |
5 |
125,590,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00906:Aacs
|
APN |
5 |
125,580,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01613:Aacs
|
APN |
5 |
125,589,716 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01796:Aacs
|
APN |
5 |
125,590,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02155:Aacs
|
APN |
5 |
125,583,350 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02585:Aacs
|
APN |
5 |
125,592,121 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03218:Aacs
|
APN |
5 |
125,561,727 (GRCm39) |
splice site |
probably null |
|
|
PIT4283001:Aacs
|
UTSW |
5 |
125,561,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0328:Aacs
|
UTSW |
5 |
125,593,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1478:Aacs
|
UTSW |
5 |
125,580,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1511:Aacs
|
UTSW |
5 |
125,592,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1544:Aacs
|
UTSW |
5 |
125,593,394 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1616:Aacs
|
UTSW |
5 |
125,561,590 (GRCm39) |
splice site |
probably null |
|
|
R1709:Aacs
|
UTSW |
5 |
125,566,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1725:Aacs
|
UTSW |
5 |
125,559,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2424:Aacs
|
UTSW |
5 |
125,590,159 (GRCm39) |
splice site |
probably null |
|
|
R2472:Aacs
|
UTSW |
5 |
125,583,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3612:Aacs
|
UTSW |
5 |
125,580,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Aacs
|
UTSW |
5 |
125,583,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3766:Aacs
|
UTSW |
5 |
125,583,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4740:Aacs
|
UTSW |
5 |
125,583,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Aacs
|
UTSW |
5 |
125,583,224 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5433:Aacs
|
UTSW |
5 |
125,592,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5477:Aacs
|
UTSW |
5 |
125,588,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5863:Aacs
|
UTSW |
5 |
125,580,287 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6919:Aacs
|
UTSW |
5 |
125,583,227 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6943:Aacs
|
UTSW |
5 |
125,583,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7543:Aacs
|
UTSW |
5 |
125,559,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Aacs
|
UTSW |
5 |
125,583,271 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7923:Aacs
|
UTSW |
5 |
125,588,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Aacs
|
UTSW |
5 |
125,580,691 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-04-17 |
Incidental Mutation