Incidental Mutation 'R6707:Acss3'
ID |
528985 |
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 |
044825-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R6707 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106920783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 109
(Y109C)
|
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: Y109C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040823 Gene: ENSMUSG00000035948 AA Change: Y109C
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
112 |
496 |
4.6e-67 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165067
AA Change: Y109C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128209 Gene: ENSMUSG00000035948 AA Change: Y109C
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg2 |
C |
T |
6: 83,490,076 (GRCm39) |
W341* |
probably null |
Het |
Adam29 |
C |
T |
8: 56,325,135 (GRCm39) |
G440R |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,496,903 (GRCm39) |
D1153G |
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,211,624 (GRCm39) |
T120A |
possibly damaging |
Het |
Arhgef28 |
G |
T |
13: 98,073,224 (GRCm39) |
Q1371K |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,222 (GRCm39) |
D122E |
probably benign |
Het |
Boc |
A |
T |
16: 44,320,979 (GRCm39) |
I227N |
possibly damaging |
Het |
Clca3b |
T |
A |
3: 144,550,288 (GRCm39) |
Q219L |
probably benign |
Het |
Cplane1 |
G |
A |
15: 8,252,606 (GRCm39) |
V1943M |
probably benign |
Het |
Cyp2c66 |
T |
A |
19: 39,174,944 (GRCm39) |
F448Y |
probably damaging |
Het |
Ddx5 |
A |
G |
11: 106,673,058 (GRCm39) |
M489T |
probably benign |
Het |
Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
Ecpas |
T |
A |
4: 58,879,101 (GRCm39) |
I63L |
possibly damaging |
Het |
Eqtn |
T |
C |
4: 94,796,056 (GRCm39) |
D215G |
probably benign |
Het |
Evi5l |
A |
T |
8: 4,256,322 (GRCm39) |
T706S |
probably benign |
Het |
Gtf2f1 |
T |
C |
17: 57,314,770 (GRCm39) |
E90G |
probably benign |
Het |
Hpx |
A |
T |
7: 105,244,682 (GRCm39) |
S168T |
probably benign |
Het |
Ipo4 |
C |
A |
14: 55,866,361 (GRCm39) |
V773L |
possibly damaging |
Het |
Ireb2 |
C |
T |
9: 54,811,245 (GRCm39) |
T716I |
probably damaging |
Het |
Klhl21 |
A |
G |
4: 152,096,784 (GRCm39) |
D350G |
possibly damaging |
Het |
Myh13 |
A |
T |
11: 67,241,086 (GRCm39) |
N821I |
probably damaging |
Het |
Nipbl |
G |
T |
15: 8,354,043 (GRCm39) |
T1698K |
probably benign |
Het |
Nod2 |
A |
G |
8: 89,391,817 (GRCm39) |
H686R |
probably benign |
Het |
Ntf3 |
A |
G |
6: 126,141,691 (GRCm39) |
|
probably null |
Het |
Or6c215 |
G |
T |
10: 129,637,689 (GRCm39) |
A235D |
probably damaging |
Het |
Or6c69 |
T |
C |
10: 129,747,608 (GRCm39) |
T180A |
probably benign |
Het |
Parp9 |
A |
T |
16: 35,768,303 (GRCm39) |
H161L |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,392,539 (GRCm39) |
N1625D |
probably benign |
Het |
Rdx |
T |
C |
9: 51,974,954 (GRCm39) |
F30S |
probably damaging |
Het |
Smo |
T |
A |
6: 29,736,173 (GRCm39) |
V55E |
probably benign |
Het |
Sox9 |
C |
A |
11: 112,673,698 (GRCm39) |
N96K |
probably damaging |
Het |
Spp2 |
T |
G |
1: 88,345,016 (GRCm39) |
|
probably null |
Het |
Tex46 |
A |
G |
4: 136,340,161 (GRCm39) |
N82S |
probably benign |
Het |
Timm22 |
C |
T |
11: 76,298,151 (GRCm39) |
L41F |
possibly damaging |
Het |
Tmem30a |
A |
T |
9: 79,681,547 (GRCm39) |
Y207* |
probably null |
Het |
Tmem70 |
T |
C |
1: 16,747,531 (GRCm39) |
V216A |
probably damaging |
Het |
Tspan18 |
T |
C |
2: 93,040,302 (GRCm39) |
N151S |
probably benign |
Het |
Vmn2r90 |
T |
C |
17: 17,948,364 (GRCm39) |
C537R |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,545,583 (GRCm39) |
Y339C |
probably damaging |
Het |
Zp2 |
C |
T |
7: 119,733,145 (GRCm39) |
G599R |
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 |
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 |
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'- TCCGCCTGGATATCAGTGATAAC -3'
(R):5'- AAAATGTGCTTTGCCACCCTC -3'
Sequencing Primer
(F):5'- CTGCTCCAAGACTTCCTTA -3'
(R):5'- CATTTCCTGACATGAAGTTCTGTAGC -3'
|
Posted On |
2018-07-24 |