Incidental Mutation 'R8515:Acss3'
ID |
656090 |
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 |
067847-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R8515 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106784524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 566
(I566T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165067]
|
AlphaFold |
Q14DH7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165067
AA Change: I566T
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128209 Gene: ENSMUSG00000035948 AA Change: I566T
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
A |
G |
6: 86,902,112 (GRCm39) |
M94V |
possibly damaging |
Het |
Adcy3 |
T |
C |
12: 4,262,187 (GRCm39) |
V1080A |
probably damaging |
Het |
Aldh1b1 |
C |
T |
4: 45,803,818 (GRCm39) |
T452I |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,946,064 (GRCm39) |
S2392T |
possibly damaging |
Het |
Ccnb2 |
A |
G |
9: 70,320,382 (GRCm39) |
|
probably null |
Het |
Clec4a4 |
T |
A |
6: 122,980,982 (GRCm39) |
Y72N |
probably benign |
Het |
Clk4 |
G |
A |
11: 51,166,088 (GRCm39) |
R198Q |
probably damaging |
Het |
Coro2a |
ACCAGAAGAGCCATCCAG |
ACCAG |
4: 46,544,117 (GRCm39) |
|
probably null |
Het |
Ctbs |
T |
A |
3: 146,164,568 (GRCm39) |
Y240* |
probably null |
Het |
Cyp2d22 |
T |
C |
15: 82,258,113 (GRCm39) |
D169G |
probably benign |
Het |
Dnah11 |
C |
T |
12: 117,939,533 (GRCm39) |
V3196I |
probably damaging |
Het |
Fam110b |
T |
C |
4: 5,799,380 (GRCm39) |
V266A |
probably benign |
Het |
Fbxo40 |
A |
G |
16: 36,791,015 (GRCm39) |
S32P |
probably damaging |
Het |
Gm4787 |
T |
A |
12: 81,424,043 (GRCm39) |
H705L |
probably benign |
Het |
Grik1 |
A |
T |
16: 87,720,170 (GRCm39) |
Y702* |
probably null |
Het |
Hao2 |
A |
T |
3: 98,790,963 (GRCm39) |
N70K |
probably benign |
Het |
Heatr4 |
A |
G |
12: 84,001,478 (GRCm39) |
I888T |
probably damaging |
Het |
Herc4 |
T |
A |
10: 63,151,565 (GRCm39) |
N935K |
probably benign |
Het |
Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
Kif3b |
C |
T |
2: 153,158,427 (GRCm39) |
T76M |
probably damaging |
Het |
Kmo |
A |
T |
1: 175,474,718 (GRCm39) |
H134L |
probably damaging |
Het |
Lama3 |
C |
A |
18: 12,544,688 (GRCm39) |
Q344K |
probably null |
Het |
Man2a2 |
A |
T |
7: 80,018,038 (GRCm39) |
F211I |
possibly damaging |
Het |
Mmp19 |
T |
C |
10: 128,631,471 (GRCm39) |
I189T |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,575,629 (GRCm39) |
G1710S |
unknown |
Het |
Myo15b |
G |
A |
11: 115,749,610 (GRCm39) |
G127S |
|
Het |
Naca |
T |
C |
10: 127,880,112 (GRCm39) |
S1715P |
possibly damaging |
Het |
Ndufs4 |
T |
C |
13: 114,425,339 (GRCm39) |
N163S |
probably damaging |
Het |
Nim1k |
G |
A |
13: 120,173,986 (GRCm39) |
R303* |
probably null |
Het |
Nkx6-3 |
A |
T |
8: 23,643,707 (GRCm39) |
Y36F |
possibly damaging |
Het |
Osbpl10 |
C |
A |
9: 115,005,136 (GRCm39) |
Q188K |
probably benign |
Het |
Pak6 |
G |
T |
2: 118,520,478 (GRCm39) |
R156S |
probably benign |
Het |
Pcf11 |
T |
A |
7: 92,307,998 (GRCm39) |
K723N |
possibly damaging |
Het |
Pcnx1 |
A |
G |
12: 82,009,490 (GRCm39) |
Y546C |
possibly damaging |
Het |
Pik3r6 |
A |
G |
11: 68,430,783 (GRCm39) |
Y528C |
probably damaging |
Het |
Ppp3cb |
T |
A |
14: 20,581,844 (GRCm39) |
N57I |
probably benign |
Het |
Preb |
A |
G |
5: 31,116,722 (GRCm39) |
L57P |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,482,232 (GRCm39) |
D425G |
probably damaging |
Het |
Rab35 |
G |
A |
5: 115,781,467 (GRCm39) |
V90I |
probably damaging |
Het |
Rab3gap2 |
G |
C |
1: 184,995,017 (GRCm39) |
S852T |
probably benign |
Het |
Rcn1 |
C |
T |
2: 105,219,464 (GRCm39) |
R243Q |
probably null |
Het |
Rom1 |
A |
G |
19: 8,906,465 (GRCm39) |
S25P |
probably damaging |
Het |
Shank3 |
C |
A |
15: 89,387,775 (GRCm39) |
Y286* |
probably null |
Het |
Sis |
T |
A |
3: 72,836,742 (GRCm39) |
I837L |
probably benign |
Het |
Ski |
T |
C |
4: 155,245,083 (GRCm39) |
S388G |
possibly damaging |
Het |
Skint1 |
T |
C |
4: 111,867,921 (GRCm39) |
F16S |
probably benign |
Het |
Slc22a21 |
T |
G |
11: 53,846,904 (GRCm39) |
D323A |
possibly damaging |
Het |
Slc40a1 |
G |
A |
1: 45,951,467 (GRCm39) |
T230I |
probably damaging |
Het |
Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,124,436 (GRCm39) |
D2858V |
probably benign |
Het |
Spdl1 |
G |
A |
11: 34,704,252 (GRCm39) |
T527I |
possibly damaging |
Het |
Sptb |
A |
T |
12: 76,658,815 (GRCm39) |
L1240Q |
probably benign |
Het |
Tef |
T |
A |
15: 81,687,037 (GRCm39) |
V18D |
possibly damaging |
Het |
Uckl1 |
T |
C |
2: 181,216,280 (GRCm39) |
D155G |
probably damaging |
Het |
Vmn1r215 |
A |
G |
13: 23,260,037 (GRCm39) |
I26V |
probably benign |
Het |
Wac |
A |
G |
18: 7,871,606 (GRCm39) |
M46V |
probably benign |
Het |
Wbp1 |
C |
T |
6: 83,096,866 (GRCm39) |
G146D |
probably damaging |
Het |
Zfand2a |
A |
C |
5: 139,459,546 (GRCm39) |
S147A |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,464,534 (GRCm39) |
Y1589F |
probably benign |
Het |
Zfp345 |
G |
C |
2: 150,314,348 (GRCm39) |
D396E |
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 |
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 |
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'- TCCACAAAGAGCAAGTATGTGC -3'
(R):5'- CAGACCTTTACCTAGCACTGC -3'
Sequencing Primer
(F):5'- TGACTTGCCTAGCATGAAGG -3'
(R):5'- CTGCATGCTAGCTGCATA -3'
|
Posted On |
2020-10-20 |