Incidental Mutation 'R0032:Acss3'
| ID |
15297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acss3
|
| Ensembl Gene |
ENSMUSG00000035948 |
| Gene Name |
acyl-CoA synthetase short-chain family member 3 |
| Synonyms |
LOC380660, 8430416H19Rik |
| MMRRC Submission |
038326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R0032 (G1)
of strain
731
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106959156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 97
(T97S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044668]
[ENSMUST00000165067]
|
| AlphaFold |
Q14DH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044668
AA Change: T97S
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: T97S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
112 |
496 |
4.6e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000065567
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165067
AA Change: T97S
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: T97S
| 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 |
|
| Meta Mutation Damage Score |
0.1636 |
| Coding Region Coverage |
- 1x: 80.9%
- 3x: 73.4%
- 10x: 52.4%
- 20x: 32.5%
|
| Validation Efficiency |
94% (87/93) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
C |
11: 7,094,729 (GRCm39) |
S552P |
possibly damaging |
Het |
| C2cd3 |
T |
A |
7: 100,093,652 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
A |
T |
16: 36,441,235 (GRCm39) |
S77R |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,768,559 (GRCm39) |
R188H |
probably benign |
Het |
| Cpne8 |
T |
A |
15: 90,453,771 (GRCm39) |
|
probably benign |
Het |
| Ctsg |
T |
A |
14: 56,339,196 (GRCm39) |
I21F |
probably damaging |
Het |
| Cyp2j9 |
T |
G |
4: 96,457,043 (GRCm39) |
N476T |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,746,387 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,671,057 (GRCm39) |
L995* |
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,877,955 (GRCm39) |
K2623R |
possibly damaging |
Het |
| Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
| Dnmbp |
A |
C |
19: 43,891,158 (GRCm39) |
L203R |
probably damaging |
Het |
| Eif4g1 |
C |
T |
16: 20,504,648 (GRCm39) |
S829F |
probably damaging |
Het |
| Enkur |
T |
C |
2: 21,194,115 (GRCm39) |
I153V |
probably benign |
Het |
| Erf |
T |
C |
7: 24,944,500 (GRCm39) |
Y277C |
possibly damaging |
Het |
| Fcsk |
G |
A |
8: 111,618,735 (GRCm39) |
T341M |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,555,742 (GRCm39) |
|
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,452 (GRCm39) |
|
probably null |
Het |
| Il11ra1 |
A |
G |
4: 41,768,187 (GRCm39) |
E366G |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,712,209 (GRCm39) |
C261R |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,681,377 (GRCm39) |
F998L |
probably benign |
Het |
| Krt74 |
T |
A |
15: 101,669,887 (GRCm39) |
|
noncoding transcript |
Het |
| Me2 |
T |
G |
18: 73,927,596 (GRCm39) |
M219L |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,292,523 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,015,321 (GRCm39) |
V842E |
probably benign |
Het |
| Oma1 |
T |
A |
4: 103,223,209 (GRCm39) |
S465T |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,433,887 (GRCm39) |
H574L |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,542,179 (GRCm39) |
N804S |
possibly damaging |
Het |
| Pde4a |
C |
A |
9: 21,112,728 (GRCm39) |
|
probably benign |
Het |
| Pilra |
T |
A |
5: 137,829,527 (GRCm39) |
D179V |
probably damaging |
Het |
| Piwil1 |
G |
A |
5: 128,820,344 (GRCm39) |
S247N |
probably benign |
Het |
| Prss58 |
T |
G |
6: 40,872,633 (GRCm39) |
T158P |
probably benign |
Het |
| Slc35e3 |
T |
C |
10: 117,580,837 (GRCm39) |
M156V |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,414,198 (GRCm39) |
R938Q |
probably damaging |
Het |
| Syt8 |
T |
C |
7: 141,992,926 (GRCm39) |
V152A |
probably benign |
Het |
| Tppp2 |
G |
T |
14: 52,156,866 (GRCm39) |
R81L |
possibly damaging |
Het |
| Trpc3 |
A |
G |
3: 36,698,405 (GRCm39) |
I618T |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,168,565 (GRCm39) |
D891E |
unknown |
Het |
| Zfp120 |
A |
T |
2: 149,959,512 (GRCm39) |
V270E |
possibly 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 |
|
IGL03181:Acss3
|
APN |
10 |
106,889,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-12-17 |
Incidental Mutation