Incidental Mutation 'IGL00155:Aacs'
ID |
1621 |
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 # |
IGL00155
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
125552937-125594469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 125590235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 498
(F498S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031445]
|
AlphaFold |
Q9D2R0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031445
AA Change: F498S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031445 Gene: ENSMUSG00000029482 AA Change: F498S
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: ENSMUST00000196556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199978
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200286
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap11a |
A |
G |
2: 113,664,601 (GRCm39) |
S561P |
probably benign |
Het |
Best3 |
T |
C |
10: 116,824,632 (GRCm39) |
Y33H |
probably damaging |
Het |
Cd209b |
T |
A |
8: 3,969,945 (GRCm39) |
|
probably benign |
Het |
Cep152 |
A |
G |
2: 125,405,808 (GRCm39) |
S1575P |
probably benign |
Het |
Crabp2 |
A |
G |
3: 87,859,506 (GRCm39) |
Y52C |
probably damaging |
Het |
Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 76,957,744 (GRCm39) |
W137R |
probably damaging |
Het |
Cxcl9 |
T |
A |
5: 92,471,728 (GRCm39) |
H104L |
possibly damaging |
Het |
Ddr2 |
A |
G |
1: 169,811,996 (GRCm39) |
I742T |
possibly damaging |
Het |
Frem1 |
A |
G |
4: 82,877,626 (GRCm39) |
V223A |
possibly damaging |
Het |
Fzd10 |
T |
A |
5: 128,678,592 (GRCm39) |
I104N |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,761,962 (GRCm39) |
S473P |
probably damaging |
Het |
Gtf2i |
T |
C |
5: 134,271,602 (GRCm39) |
Y873C |
probably damaging |
Het |
Igsf6 |
T |
A |
7: 120,669,876 (GRCm39) |
K89* |
probably null |
Het |
Ints3 |
A |
G |
3: 90,313,636 (GRCm39) |
F331L |
probably damaging |
Het |
Kcnh3 |
A |
T |
15: 99,140,354 (GRCm39) |
H1080L |
possibly damaging |
Het |
Mettl15 |
A |
T |
2: 108,923,521 (GRCm39) |
Y300* |
probably null |
Het |
Mms19 |
A |
G |
19: 41,936,672 (GRCm39) |
F654L |
probably benign |
Het |
Myc |
A |
G |
15: 61,861,669 (GRCm39) |
H425R |
probably benign |
Het |
Ntn1 |
G |
T |
11: 68,117,445 (GRCm39) |
|
probably benign |
Het |
Ormdl2 |
C |
A |
10: 128,655,944 (GRCm39) |
G69W |
probably damaging |
Het |
Pdpr |
T |
C |
8: 111,828,704 (GRCm39) |
V69A |
possibly damaging |
Het |
Rbbp6 |
T |
C |
7: 122,587,908 (GRCm39) |
I254T |
probably damaging |
Het |
Sema6d |
A |
G |
2: 124,501,785 (GRCm39) |
R543G |
possibly damaging |
Het |
Slc18a1 |
C |
T |
8: 69,503,998 (GRCm39) |
A314T |
probably damaging |
Het |
Slc22a26 |
A |
G |
19: 7,760,201 (GRCm39) |
L514P |
probably damaging |
Het |
Slc22a28 |
A |
C |
19: 8,107,567 (GRCm39) |
S167A |
possibly damaging |
Het |
Speer1m |
A |
G |
5: 11,971,377 (GRCm39) |
S110G |
possibly damaging |
Het |
Tchh |
A |
G |
3: 93,352,606 (GRCm39) |
E682G |
unknown |
Het |
Thbs2 |
A |
T |
17: 14,889,097 (GRCm39) |
M1134K |
probably damaging |
Het |
Tmem26 |
A |
G |
10: 68,611,184 (GRCm39) |
S218G |
probably damaging |
Het |
Tmprss11c |
A |
T |
5: 86,387,254 (GRCm39) |
S208R |
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 145,019,161 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
C |
1: 188,596,875 (GRCm39) |
S3872P |
probably benign |
Het |
Vmn1r69 |
T |
C |
7: 10,313,879 (GRCm39) |
N205S |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,365,840 (GRCm39) |
|
probably benign |
Het |
Wwtr1 |
A |
T |
3: 57,370,942 (GRCm39) |
M328K |
possibly damaging |
Het |
Zfp64 |
G |
A |
2: 168,768,601 (GRCm39) |
S337L |
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 |
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 |
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 |
2011-07-12 |