Incidental Mutation 'IGL00906:Aacs'
| ID |
27388 |
| 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 # |
IGL00906
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
125552937-125594469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125580338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 221
(E221G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031445]
|
| AlphaFold |
Q9D2R0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031445
AA Change: E221G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: E221G
| 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: ENSMUST00000144361
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alb |
A |
G |
5: 90,619,932 (GRCm39) |
N453S |
probably benign |
Het |
| Bckdha |
C |
T |
7: 25,332,767 (GRCm39) |
V183M |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,055,674 (GRCm39) |
|
probably benign |
Het |
| Ccdc163 |
T |
C |
4: 116,567,487 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
T |
18: 22,268,225 (GRCm39) |
C87* |
probably null |
Het |
| Cfhr4 |
A |
T |
1: 139,659,312 (GRCm39) |
V739E |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,660,700 (GRCm39) |
V708A |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,091,512 (GRCm39) |
V1136A |
possibly damaging |
Het |
| Dnah11 |
A |
C |
12: 117,874,937 (GRCm39) |
L3976R |
probably damaging |
Het |
| Erich1 |
A |
G |
8: 14,083,770 (GRCm39) |
|
probably benign |
Het |
| Fam228a |
A |
T |
12: 4,782,773 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Iars2 |
A |
T |
1: 185,028,600 (GRCm39) |
|
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,587,197 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
A |
T |
2: 62,476,168 (GRCm39) |
I36N |
probably benign |
Het |
| Jak1 |
C |
T |
4: 101,011,826 (GRCm39) |
G1092D |
probably damaging |
Het |
| Kir3dl2 |
G |
A |
X: 135,357,097 (GRCm39) |
P122S |
probably damaging |
Het |
| Nacc2 |
T |
C |
2: 25,951,678 (GRCm39) |
T386A |
probably damaging |
Het |
| Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
| Or4k15 |
A |
G |
14: 50,364,214 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,051 (GRCm39) |
G16D |
probably damaging |
Het |
| Pcca |
A |
C |
14: 122,927,545 (GRCm39) |
D436A |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,174 (GRCm39) |
Q168L |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,340,834 (GRCm39) |
I598V |
probably benign |
Het |
| Pla2g6 |
C |
T |
15: 79,171,947 (GRCm39) |
V637I |
probably damaging |
Het |
| Plac1 |
A |
C |
X: 52,159,593 (GRCm39) |
V39G |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,416,822 (GRCm39) |
E5G |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,157,023 (GRCm39) |
D967G |
possibly damaging |
Het |
| Rel |
T |
C |
11: 23,694,266 (GRCm39) |
T322A |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,947,470 (GRCm39) |
T137A |
probably benign |
Het |
| Sgpp2 |
A |
G |
1: 78,367,184 (GRCm39) |
R106G |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,724,984 (GRCm39) |
M459L |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,140 (GRCm39) |
L52P |
probably damaging |
Het |
| Srarp |
G |
A |
4: 141,160,584 (GRCm39) |
T83M |
probably benign |
Het |
| Sstr2 |
A |
G |
11: 113,515,821 (GRCm39) |
R247G |
probably benign |
Het |
| Tnpo3 |
G |
A |
6: 29,589,047 (GRCm39) |
S101L |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,387,622 (GRCm39) |
I4863T |
unknown |
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 |
|
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 |
|
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