Incidental Mutation 'IGL02155:Aacs'
ID |
282204 |
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: 0.654)
|
Stock # |
IGL02155
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
125552937-125594469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125583350 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 302
(H302R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031445]
|
AlphaFold |
Q9D2R0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031445
AA Change: H302R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031445 Gene: ENSMUSG00000029482 AA Change: H302R
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
T |
16: 56,408,327 (GRCm39) |
H254L |
probably damaging |
Het |
Adcy3 |
G |
A |
12: 4,262,142 (GRCm39) |
W1064* |
probably null |
Het |
Arvcf |
C |
T |
16: 18,222,650 (GRCm39) |
P70S |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,896,906 (GRCm39) |
D624G |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,050,250 (GRCm39) |
|
probably benign |
Het |
Cyp2a5 |
T |
A |
7: 26,542,471 (GRCm39) |
F491Y |
probably benign |
Het |
Disp2 |
C |
T |
2: 118,622,285 (GRCm39) |
R1006C |
probably damaging |
Het |
Dnajc22 |
T |
C |
15: 98,998,886 (GRCm39) |
Y24H |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,153,245 (GRCm39) |
F3656L |
probably benign |
Het |
Fbxo31 |
A |
G |
8: 122,285,814 (GRCm39) |
F212S |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,828,696 (GRCm39) |
M6831T |
probably benign |
Het |
Gpi1 |
G |
T |
7: 33,929,614 (GRCm39) |
Q9K |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,439,349 (GRCm39) |
S5495C |
probably damaging |
Het |
Ift74 |
A |
G |
4: 94,567,488 (GRCm39) |
I394V |
probably benign |
Het |
Kcnh5 |
G |
A |
12: 75,223,312 (GRCm39) |
|
probably benign |
Het |
Lars2 |
A |
G |
9: 123,284,047 (GRCm39) |
D745G |
probably damaging |
Het |
Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
Mlxip |
T |
C |
5: 123,591,455 (GRCm39) |
M878T |
probably benign |
Het |
Mrgpra4 |
T |
C |
7: 47,631,292 (GRCm39) |
Y103C |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,045,806 (GRCm39) |
I1657T |
probably damaging |
Het |
Or5m11 |
T |
A |
2: 85,782,352 (GRCm39) |
M315K |
probably benign |
Het |
Orc1 |
T |
A |
4: 108,447,874 (GRCm39) |
D40E |
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,189,888 (GRCm39) |
|
probably benign |
Het |
Ro60 |
C |
T |
1: 143,637,007 (GRCm39) |
|
probably null |
Het |
Sema4d |
A |
G |
13: 51,857,303 (GRCm39) |
V643A |
probably benign |
Het |
Taf7 |
A |
T |
18: 37,776,564 (GRCm39) |
M1K |
probably null |
Het |
Tnfsf10 |
A |
T |
3: 27,389,380 (GRCm39) |
D147V |
possibly damaging |
Het |
Usp45 |
T |
A |
4: 21,798,743 (GRCm39) |
|
probably null |
Het |
Wdr62 |
T |
C |
7: 29,962,068 (GRCm39) |
D2G |
probably damaging |
Het |
Zp2 |
T |
A |
7: 119,743,340 (GRCm39) |
I50F |
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 |
IGL00910:Aacs
|
APN |
5 |
125,585,772 (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 |
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 |
2015-04-16 |