Incidental Mutation 'R0418:Acss3'
ID |
36884 |
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 |
038620-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R0418 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106859773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 311
(Y311C)
|
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: Y311C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040823 Gene: ENSMUSG00000035948 AA Change: Y311C
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
112 |
496 |
4.6e-67 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165067
AA Change: Y311C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128209 Gene: ENSMUSG00000035948 AA Change: Y311C
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 |
0.5705 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.2%
|
Validation Efficiency |
98% (64/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930018P22Rik |
G |
T |
2: 103,953,675 (GRCm39) |
|
probably null |
Het |
Abca14 |
T |
C |
7: 119,806,657 (GRCm39) |
L19P |
probably damaging |
Het |
Abcb1a |
T |
A |
5: 8,763,281 (GRCm39) |
V603E |
probably damaging |
Het |
Acsl5 |
A |
G |
19: 55,261,238 (GRCm39) |
D65G |
probably benign |
Het |
Ak8 |
T |
G |
2: 28,623,868 (GRCm39) |
I151S |
possibly damaging |
Het |
Aldh1a1 |
T |
C |
19: 20,606,413 (GRCm39) |
|
probably benign |
Het |
Aldh1l1 |
A |
G |
6: 90,546,875 (GRCm39) |
R393G |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,767,353 (GRCm39) |
L1164Q |
probably damaging |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
Atf5 |
A |
G |
7: 44,462,821 (GRCm39) |
M101T |
possibly damaging |
Het |
Det1 |
T |
C |
7: 78,493,765 (GRCm39) |
T80A |
probably benign |
Het |
Dpp9 |
C |
T |
17: 56,501,404 (GRCm39) |
|
probably benign |
Het |
Fam13c |
A |
G |
10: 70,370,591 (GRCm39) |
R244G |
probably damaging |
Het |
Fat3 |
A |
T |
9: 16,158,192 (GRCm39) |
N1139K |
probably damaging |
Het |
Fbxo17 |
A |
G |
7: 28,432,916 (GRCm39) |
T146A |
possibly damaging |
Het |
Fli1 |
T |
C |
9: 32,363,425 (GRCm39) |
|
probably benign |
Het |
Glb1l2 |
T |
G |
9: 26,705,397 (GRCm39) |
D151A |
probably damaging |
Het |
Gli2 |
G |
A |
1: 118,768,220 (GRCm39) |
T669I |
possibly damaging |
Het |
Igsf3 |
C |
A |
3: 101,342,751 (GRCm39) |
R463S |
probably damaging |
Het |
Il1rl2 |
T |
C |
1: 40,365,662 (GRCm39) |
V3A |
unknown |
Het |
Irx3 |
G |
A |
8: 92,526,708 (GRCm39) |
S332F |
probably benign |
Het |
Katnb1 |
C |
T |
8: 95,822,286 (GRCm39) |
T303M |
possibly damaging |
Het |
Lrrc31 |
A |
T |
3: 30,743,383 (GRCm39) |
L194Q |
probably damaging |
Het |
Lrrc37a |
T |
G |
11: 103,394,264 (GRCm39) |
E387A |
probably benign |
Het |
Mapk14 |
T |
C |
17: 28,910,763 (GRCm39) |
I17T |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,483,401 (GRCm39) |
|
probably benign |
Het |
Myo16 |
A |
G |
8: 10,619,918 (GRCm39) |
T1490A |
probably benign |
Het |
Nfasc |
A |
G |
1: 132,539,333 (GRCm39) |
V399A |
probably damaging |
Het |
Nhsl3 |
A |
G |
4: 129,117,477 (GRCm39) |
S396P |
probably damaging |
Het |
Nobox |
T |
C |
6: 43,284,169 (GRCm39) |
K1E |
probably null |
Het |
Nr2c1 |
A |
T |
10: 94,017,374 (GRCm39) |
M371L |
probably benign |
Het |
Oplah |
C |
T |
15: 76,182,687 (GRCm39) |
R924H |
probably benign |
Het |
Or10ak16 |
C |
T |
4: 118,750,448 (GRCm39) |
T56I |
possibly damaging |
Het |
Or51a10 |
G |
A |
7: 103,698,979 (GRCm39) |
T194I |
probably benign |
Het |
Pappa2 |
C |
A |
1: 158,544,560 (GRCm39) |
C1756F |
probably damaging |
Het |
Pdzd8 |
G |
A |
19: 59,289,361 (GRCm39) |
R680C |
probably damaging |
Het |
Rassf3 |
G |
A |
10: 121,253,075 (GRCm39) |
T44M |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,377,693 (GRCm39) |
|
probably null |
Het |
Rnf126 |
C |
T |
10: 79,598,477 (GRCm39) |
|
probably benign |
Het |
Rnf144b |
T |
C |
13: 47,397,966 (GRCm39) |
S299P |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,848,981 (GRCm39) |
|
probably benign |
Het |
Scel |
T |
A |
14: 103,840,690 (GRCm39) |
S511T |
probably benign |
Het |
Slc16a10 |
G |
T |
10: 39,916,627 (GRCm39) |
S138* |
probably null |
Het |
Slc36a4 |
A |
T |
9: 15,645,562 (GRCm39) |
I330F |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,722,420 (GRCm39) |
I84M |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,982,579 (GRCm39) |
|
probably benign |
Het |
Suco |
C |
T |
1: 161,662,419 (GRCm39) |
V671I |
probably benign |
Het |
Suox |
G |
A |
10: 128,506,754 (GRCm39) |
P425S |
probably damaging |
Het |
Tmem266 |
T |
A |
9: 55,344,697 (GRCm39) |
V443E |
probably benign |
Het |
Tmprss11f |
A |
T |
5: 86,704,870 (GRCm39) |
I16N |
probably benign |
Het |
Tnik |
T |
A |
3: 28,625,029 (GRCm39) |
Y321* |
probably null |
Het |
Tnrc6b |
T |
C |
15: 80,797,524 (GRCm39) |
M1357T |
probably benign |
Het |
Tpbg |
C |
A |
9: 85,726,803 (GRCm39) |
Y257* |
probably null |
Het |
Usp37 |
A |
T |
1: 74,529,266 (GRCm39) |
S138T |
probably benign |
Het |
Veph1 |
T |
A |
3: 66,162,449 (GRCm39) |
R70* |
probably null |
Het |
Vmn2r17 |
C |
T |
5: 109,600,747 (GRCm39) |
P682S |
probably damaging |
Het |
Vmn2r79 |
A |
C |
7: 86,651,611 (GRCm39) |
N337H |
probably benign |
Het |
Vstm2b |
A |
G |
7: 40,551,876 (GRCm39) |
D68G |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,236,933 (GRCm39) |
A167S |
possibly damaging |
Het |
Zfp647 |
A |
T |
15: 76,795,586 (GRCm39) |
I358N |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGCCTAAGTCAGAAGCTGCC -3'
(R):5'- TGTTCCGTGTGATTTCCACTTAGCG -3'
Sequencing Primer
(F):5'- TCAGAAGCTGCCCACCATAC -3'
(R):5'- CACAGCATATTGTCATCATCATAGGG -3'
|
Posted On |
2013-05-09 |