Incidental Mutation 'R9387:Acss3'
ID |
710393 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R9387 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106959255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 64
(S64P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040823
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044668]
[ENSMUST00000165067]
|
AlphaFold |
Q14DH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044668
AA Change: S64P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040823 Gene: ENSMUSG00000035948 AA Change: S64P
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
112 |
496 |
4.6e-67 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165067
AA Change: S64P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128209 Gene: ENSMUSG00000035948 AA Change: S64P
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: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,553,255 (GRCm39) |
D152G |
probably benign |
Het |
Abcb1b |
G |
A |
5: 8,875,614 (GRCm39) |
V596I |
probably benign |
Het |
Aggf1 |
T |
C |
13: 95,507,461 (GRCm39) |
Y108C |
probably damaging |
Het |
Arpc5l |
T |
C |
2: 38,903,195 (GRCm39) |
V73A |
probably benign |
Het |
Atp5f1d |
A |
G |
10: 79,981,134 (GRCm39) |
D126G |
probably damaging |
Het |
Carmil3 |
T |
A |
14: 55,731,869 (GRCm39) |
L199* |
probably null |
Het |
Cblb |
A |
G |
16: 51,853,515 (GRCm39) |
R44G |
probably benign |
Het |
Cdcp3 |
A |
G |
7: 130,863,620 (GRCm39) |
I1208V |
unknown |
Het |
Chaf1b |
T |
G |
16: 93,689,629 (GRCm39) |
F225V |
probably benign |
Het |
Creb3l2 |
A |
T |
6: 37,356,751 (GRCm39) |
N105K |
probably damaging |
Het |
Dagla |
A |
T |
19: 10,248,465 (GRCm39) |
I65N |
probably damaging |
Het |
Dclre1c |
T |
G |
2: 3,425,342 (GRCm39) |
F30V |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,695,499 (GRCm39) |
V144A |
possibly damaging |
Het |
Dlg5 |
C |
T |
14: 24,197,168 (GRCm39) |
G1593D |
probably damaging |
Het |
Enpp3 |
A |
T |
10: 24,711,990 (GRCm39) |
M1K |
probably null |
Het |
Fmod |
C |
A |
1: 133,968,514 (GRCm39) |
H185N |
probably benign |
Het |
Gon4l |
A |
G |
3: 88,802,260 (GRCm39) |
E957G |
probably benign |
Het |
Hat1 |
A |
G |
2: 71,264,512 (GRCm39) |
M310V |
possibly damaging |
Het |
Klhl31 |
A |
T |
9: 77,557,826 (GRCm39) |
T181S |
probably benign |
Het |
Krt36 |
T |
A |
11: 99,994,906 (GRCm39) |
E222V |
probably damaging |
Het |
Lrrc27 |
A |
T |
7: 138,807,837 (GRCm39) |
K315* |
probably null |
Het |
Mak16 |
T |
G |
8: 31,650,794 (GRCm39) |
D232A |
probably damaging |
Het |
Mepce |
A |
G |
5: 137,783,322 (GRCm39) |
S335P |
possibly damaging |
Het |
Mki67 |
T |
A |
7: 135,302,378 (GRCm39) |
R885S |
probably damaging |
Het |
Mmrn1 |
G |
A |
6: 60,935,176 (GRCm39) |
W224* |
probably null |
Het |
Mroh8 |
T |
A |
2: 157,098,386 (GRCm39) |
Q254L |
possibly damaging |
Het |
Mup18 |
A |
T |
4: 61,590,854 (GRCm39) |
V101E |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,898,460 (GRCm39) |
K1508R |
probably benign |
Het |
Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
Or5g9 |
A |
G |
2: 85,551,806 (GRCm39) |
Y19C |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,066,192 (GRCm39) |
I286F |
probably damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,488,751 (GRCm39) |
Q143L |
probably benign |
Het |
Pibf1 |
T |
C |
14: 99,448,436 (GRCm39) |
S632P |
probably damaging |
Het |
Senp6 |
A |
G |
9: 79,999,646 (GRCm39) |
K100R |
probably damaging |
Het |
Slc5a9 |
A |
G |
4: 111,750,864 (GRCm39) |
S81P |
probably damaging |
Het |
Sox8 |
T |
C |
17: 25,786,338 (GRCm39) |
Q455R |
probably damaging |
Het |
Stard13 |
A |
T |
5: 151,113,483 (GRCm39) |
M26K |
probably benign |
Het |
Sulf1 |
T |
A |
1: 12,908,778 (GRCm39) |
M597K |
probably benign |
Het |
Ugt2a3 |
T |
A |
5: 87,484,832 (GRCm39) |
D64V |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,589,097 (GRCm39) |
|
probably null |
Het |
Vav3 |
A |
T |
3: 109,565,291 (GRCm39) |
H729L |
probably benign |
Het |
Vmn1r226 |
T |
A |
17: 20,907,831 (GRCm39) |
L21Q |
probably damaging |
Het |
Wdtc1 |
A |
G |
4: 133,036,058 (GRCm39) |
|
probably null |
Het |
Zfp984 |
A |
G |
4: 147,840,002 (GRCm39) |
M283T |
probably benign |
Het |
Zik1 |
A |
G |
7: 10,224,623 (GRCm39) |
L158P |
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 |
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 |
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 |
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'- TAGCTGAAGGCATCGTACATTTTG -3'
(R):5'- TGTCGCAAAGTAACAGGCGC -3'
Sequencing Primer
(F):5'- AGAACTTTAGATCCCTGGTCCCAG -3'
(R):5'- AGTAACAGGCGCCGGGAC -3'
|
Posted On |
2022-04-18 |