Incidental Mutation 'IGL03181:Acss3'
| ID |
412227 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acss3
|
| Ensembl Gene |
ENSMUSG00000035948 |
| Gene Name |
acyl-CoA synthetase short-chain family member 3 |
| Synonyms |
LOC380660, 8430416H19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL03181
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 106889249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 190
(H190Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044668]
[ENSMUST00000165067]
|
| AlphaFold |
Q14DH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044668
AA Change: H190Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: H190Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
112 |
496 |
4.6e-67 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165067
AA Change: H190Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: H190Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACAS_N
|
57 |
111 |
8.8e-22 |
PFAM |
|
Pfam:AMP-binding
|
113 |
557 |
3.2e-81 |
PFAM |
|
Pfam:AMP-binding_C
|
565 |
644 |
2.2e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,240,147 (GRCm39) |
V1319A |
possibly damaging |
Het |
| Abcb11 |
T |
A |
2: 69,158,352 (GRCm39) |
|
probably benign |
Het |
| Adra2b |
C |
T |
2: 127,205,903 (GRCm39) |
T140I |
probably benign |
Het |
| Arl1 |
T |
A |
10: 88,578,921 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
T |
G |
7: 30,424,129 (GRCm39) |
C968G |
probably benign |
Het |
| Clec4n |
T |
C |
6: 123,207,474 (GRCm39) |
C13R |
possibly damaging |
Het |
| Cnot3 |
T |
C |
7: 3,656,247 (GRCm39) |
Y178H |
probably damaging |
Het |
| Col18a1 |
G |
A |
10: 76,891,532 (GRCm39) |
R1560C |
probably damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,130,483 (GRCm39) |
F106S |
probably benign |
Het |
| Dcn |
A |
C |
10: 97,319,314 (GRCm39) |
E30D |
probably damaging |
Het |
| Dennd5a |
A |
T |
7: 109,532,865 (GRCm39) |
F302I |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,113,088 (GRCm39) |
V1501A |
probably damaging |
Het |
| Dnah10 |
C |
T |
5: 124,825,521 (GRCm39) |
P687S |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,794,755 (GRCm39) |
T387A |
probably benign |
Het |
| Dusp7 |
T |
A |
9: 106,251,009 (GRCm39) |
M378K |
probably damaging |
Het |
| Ftmt |
T |
C |
18: 52,464,953 (GRCm39) |
Y90H |
probably damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
| Gpatch3 |
T |
C |
4: 133,305,433 (GRCm39) |
F223L |
probably damaging |
Het |
| Gpr158 |
T |
A |
2: 21,787,972 (GRCm39) |
F538I |
probably benign |
Het |
| Gucy2e |
A |
G |
11: 69,121,008 (GRCm39) |
|
probably benign |
Het |
| Hadha |
A |
G |
5: 30,326,524 (GRCm39) |
V566A |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,492,021 (GRCm39) |
S3787C |
possibly damaging |
Het |
| Hnrnpk |
A |
T |
13: 58,542,130 (GRCm39) |
D265E |
possibly damaging |
Het |
| Hspbp1 |
G |
A |
7: 4,687,363 (GRCm39) |
R83W |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,243,248 (GRCm39) |
L758Q |
probably damaging |
Het |
| Ippk |
A |
G |
13: 49,595,463 (GRCm39) |
Y180C |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,330,242 (GRCm39) |
M1620K |
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,074,885 (GRCm39) |
K298R |
possibly damaging |
Het |
| Ktn1 |
A |
T |
14: 47,970,741 (GRCm39) |
T1229S |
probably benign |
Het |
| Lefty2 |
A |
G |
1: 180,725,115 (GRCm39) |
N282D |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,507,242 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
G |
A |
13: 55,394,858 (GRCm39) |
E820K |
probably damaging |
Het |
| Obsl1 |
C |
A |
1: 75,469,228 (GRCm39) |
A1238S |
probably benign |
Het |
| Odr4 |
G |
T |
1: 150,239,290 (GRCm39) |
P378T |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,220,938 (GRCm39) |
I391T |
possibly damaging |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,516 (GRCm39) |
G764* |
probably null |
Het |
| Ptpra |
T |
C |
2: 130,359,707 (GRCm39) |
F158L |
probably damaging |
Het |
| Recql |
T |
C |
6: 142,323,918 (GRCm39) |
S59G |
probably benign |
Het |
| Rrp1b |
A |
T |
17: 32,276,150 (GRCm39) |
I566F |
probably benign |
Het |
| Sh3yl1 |
G |
A |
12: 30,991,979 (GRCm39) |
D145N |
possibly damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,512,922 (GRCm39) |
I52N |
probably damaging |
Het |
| Slc51b |
A |
G |
9: 65,322,447 (GRCm39) |
|
probably null |
Het |
| Smpd4 |
C |
T |
16: 17,443,671 (GRCm39) |
Q72* |
probably null |
Het |
| Spata6 |
A |
G |
4: 111,679,963 (GRCm39) |
D391G |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,885,543 (GRCm39) |
D1853V |
possibly damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,893,058 (GRCm39) |
T333I |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,752,207 (GRCm39) |
I813N |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,246,690 (GRCm39) |
H677Q |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,426,883 (GRCm39) |
Y1064H |
probably damaging |
Het |
| Wdr82 |
T |
A |
9: 106,063,614 (GRCm39) |
I272K |
probably benign |
Het |
| Zc3h12a |
T |
C |
4: 125,013,097 (GRCm39) |
Y589C |
probably damaging |
Het |
|
| Other mutations in Acss3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Acss3
|
APN |
10 |
106,801,887 (GRCm39) |
missense |
probably benign |
|
|
IGL00941:Acss3
|
APN |
10 |
106,889,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00983:Acss3
|
APN |
10 |
106,802,825 (GRCm39) |
nonsense |
probably null |
|
|
IGL01010:Acss3
|
APN |
10 |
106,859,710 (GRCm39) |
splice site |
probably benign |
|
|
IGL02227:Acss3
|
APN |
10 |
106,881,196 (GRCm39) |
missense |
probably benign |
|
|
IGL02296:Acss3
|
APN |
10 |
106,889,312 (GRCm39) |
nonsense |
probably null |
|
|
IGL02319:Acss3
|
APN |
10 |
106,784,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0032:Acss3
|
UTSW |
10 |
106,959,156 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0032:Acss3
|
UTSW |
10 |
106,959,156 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0279:Acss3
|
UTSW |
10 |
106,920,732 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0418:Acss3
|
UTSW |
10 |
106,859,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0550:Acss3
|
UTSW |
10 |
106,889,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1114:Acss3
|
UTSW |
10 |
106,824,740 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1491:Acss3
|
UTSW |
10 |
106,773,169 (GRCm39) |
missense |
probably benign |
|
|
R1625:Acss3
|
UTSW |
10 |
106,773,263 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1771:Acss3
|
UTSW |
10 |
106,773,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Acss3
|
UTSW |
10 |
106,772,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2006:Acss3
|
UTSW |
10 |
106,798,871 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2018:Acss3
|
UTSW |
10 |
106,772,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2019:Acss3
|
UTSW |
10 |
106,772,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2078:Acss3
|
UTSW |
10 |
106,802,902 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2253:Acss3
|
UTSW |
10 |
106,840,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2391:Acss3
|
UTSW |
10 |
106,959,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3082:Acss3
|
UTSW |
10 |
106,859,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3083:Acss3
|
UTSW |
10 |
106,859,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4072:Acss3
|
UTSW |
10 |
106,959,446 (GRCm39) |
unclassified |
probably benign |
|
|
R4086:Acss3
|
UTSW |
10 |
106,889,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4087:Acss3
|
UTSW |
10 |
106,889,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4089:Acss3
|
UTSW |
10 |
106,889,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4090:Acss3
|
UTSW |
10 |
106,889,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4406:Acss3
|
UTSW |
10 |
106,889,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Acss3
|
UTSW |
10 |
106,802,890 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4608:Acss3
|
UTSW |
10 |
106,802,890 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4790:Acss3
|
UTSW |
10 |
106,859,563 (GRCm39) |
nonsense |
probably null |
|
|
R4834:Acss3
|
UTSW |
10 |
106,920,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5130:Acss3
|
UTSW |
10 |
106,840,586 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5303:Acss3
|
UTSW |
10 |
106,920,712 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5365:Acss3
|
UTSW |
10 |
106,840,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5439:Acss3
|
UTSW |
10 |
106,773,008 (GRCm39) |
nonsense |
probably null |
|
|
R5617:Acss3
|
UTSW |
10 |
106,787,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Acss3
|
UTSW |
10 |
106,784,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Acss3
|
UTSW |
10 |
106,959,183 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6154:Acss3
|
UTSW |
10 |
106,959,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6298:Acss3
|
UTSW |
10 |
106,920,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6592:Acss3
|
UTSW |
10 |
106,859,579 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6707:Acss3
|
UTSW |
10 |
106,920,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Acss3
|
UTSW |
10 |
106,889,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Acss3
|
UTSW |
10 |
106,959,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8351:Acss3
|
UTSW |
10 |
106,885,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8451:Acss3
|
UTSW |
10 |
106,885,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8515:Acss3
|
UTSW |
10 |
106,784,524 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8917:Acss3
|
UTSW |
10 |
106,773,124 (GRCm39) |
missense |
probably benign |
|
|
R8972:Acss3
|
UTSW |
10 |
106,920,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Acss3
|
UTSW |
10 |
106,959,282 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9387:Acss3
|
UTSW |
10 |
106,959,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9801:Acss3
|
UTSW |
10 |
106,881,091 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0027:Acss3
|
UTSW |
10 |
106,959,205 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Acss3
|
UTSW |
10 |
106,840,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation