Incidental Mutation 'R9308:Acss3'
| ID |
705352 |
| 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 # |
R9308 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 106959282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 55
(G55R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044668]
[ENSMUST00000165067]
|
| AlphaFold |
Q14DH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044668
AA Change: G55R
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: G55R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
112 |
496 |
4.6e-67 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165067
AA Change: G55R
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: G55R
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
T |
17: 9,220,667 (GRCm39) |
E389* |
probably null |
Het |
| 2700049A03Rik |
T |
C |
12: 71,231,233 (GRCm39) |
V997A |
probably benign |
Het |
| 9930012K11Rik |
A |
G |
14: 70,393,863 (GRCm39) |
|
probably null |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Acy3 |
C |
T |
19: 4,038,451 (GRCm39) |
R193W |
probably damaging |
Het |
| Adam15 |
T |
C |
3: 89,254,790 (GRCm39) |
D90G |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,857,875 (GRCm39) |
D833G |
probably benign |
Het |
| Apoa2 |
A |
G |
1: 171,053,300 (GRCm39) |
S40G |
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,854,061 (GRCm39) |
M1777K |
probably damaging |
Het |
| BC004004 |
A |
G |
17: 29,513,089 (GRCm39) |
E171G |
probably benign |
Het |
| Cblb |
A |
G |
16: 52,009,374 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
T |
C |
4: 70,328,504 (GRCm39) |
M1V |
probably null |
Het |
| Clca4a |
T |
G |
3: 144,676,183 (GRCm39) |
E117A |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,200,118 (GRCm39) |
|
probably null |
Het |
| Crygd |
T |
C |
1: 65,101,220 (GRCm39) |
N125S |
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,655,585 (GRCm39) |
H482L |
probably benign |
Het |
| Cyp3a41a |
A |
G |
5: 145,656,858 (GRCm39) |
M1T |
probably null |
Het |
| Dgkg |
C |
A |
16: 22,429,528 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
C |
7: 105,353,484 (GRCm39) |
V2879A |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,728,744 (GRCm39) |
C1307* |
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,706,968 (GRCm39) |
M505K |
probably benign |
Het |
| Fam131a |
A |
G |
16: 20,520,582 (GRCm39) |
D345G |
probably damaging |
Het |
| Fbxw17 |
G |
T |
13: 50,572,004 (GRCm39) |
R24L |
probably benign |
Het |
| Gmcl1 |
A |
C |
6: 86,691,239 (GRCm39) |
I252R |
possibly damaging |
Het |
| Gpr150 |
G |
A |
13: 76,203,701 (GRCm39) |
R415C |
probably damaging |
Het |
| Gtf3c4 |
G |
A |
2: 28,724,982 (GRCm39) |
S250L |
probably damaging |
Het |
| Irs3 |
G |
A |
5: 137,642,343 (GRCm39) |
A365V |
possibly damaging |
Het |
| Jph4 |
C |
A |
14: 55,346,981 (GRCm39) |
G522V |
probably damaging |
Het |
| Kcnn1 |
C |
T |
8: 71,305,434 (GRCm39) |
G302R |
probably damaging |
Het |
| Ksr1 |
A |
T |
11: 78,918,291 (GRCm39) |
L621H |
probably damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,503,945 (GRCm39) |
E124G |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,970,722 (GRCm39) |
L203P |
probably damaging |
Het |
| Mapk15 |
T |
A |
15: 75,865,714 (GRCm39) |
C2* |
probably null |
Het |
| Mga |
T |
A |
2: 119,754,369 (GRCm39) |
N959K |
possibly damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,655 (GRCm39) |
N23K |
possibly damaging |
Het |
| Myo10 |
G |
T |
15: 25,781,862 (GRCm39) |
S1119I |
probably damaging |
Het |
| Or12e13 |
G |
A |
2: 87,663,523 (GRCm39) |
G47R |
probably damaging |
Het |
| Or14j4 |
A |
G |
17: 37,921,246 (GRCm39) |
V132A |
possibly damaging |
Het |
| Or2a12 |
G |
T |
6: 42,904,749 (GRCm39) |
V195F |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,931 (GRCm39) |
H158L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,501 (GRCm39) |
V27A |
probably benign |
Het |
| Ovch2 |
T |
C |
7: 107,389,560 (GRCm39) |
E329G |
probably benign |
Het |
| Pkn2 |
C |
T |
3: 142,517,724 (GRCm39) |
R458Q |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,097,535 (GRCm39) |
|
probably null |
Het |
| Ppfia4 |
A |
G |
1: 134,245,556 (GRCm39) |
V666A |
probably benign |
Het |
| Psmb10 |
T |
C |
8: 106,662,662 (GRCm39) |
R226G |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,740,569 (GRCm39) |
V78A |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,450,850 (GRCm39) |
M1004V |
probably benign |
Het |
| Pygb |
T |
A |
2: 150,668,297 (GRCm39) |
S626T |
probably benign |
Het |
| Rad21l |
T |
C |
2: 151,491,049 (GRCm39) |
T473A |
probably benign |
Het |
| Rassf7 |
T |
C |
7: 140,798,063 (GRCm39) |
S344P |
probably benign |
Het |
| Rbbp6 |
T |
C |
7: 122,596,221 (GRCm39) |
S550P |
probably damaging |
Het |
| Rhpn2 |
T |
C |
7: 35,033,805 (GRCm39) |
L13P |
possibly damaging |
Het |
| Rps11 |
C |
T |
7: 44,772,614 (GRCm39) |
V66I |
probably benign |
Het |
| Slc22a18 |
T |
C |
7: 143,044,617 (GRCm39) |
V190A |
probably benign |
Het |
| Smad1 |
T |
C |
8: 80,098,899 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,965,556 (GRCm39) |
K327E |
possibly damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tom1l1 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
11: 90,540,648 (GRCm39) |
|
probably benign |
Het |
| Traj22 |
T |
C |
14: 54,434,729 (GRCm39) |
I8T |
|
Het |
| Txnl1 |
T |
C |
18: 63,812,446 (GRCm39) |
D116G |
probably benign |
Het |
| Ush1g |
A |
T |
11: 115,209,534 (GRCm39) |
L220Q |
probably damaging |
Het |
| Vmn2r10 |
C |
A |
5: 109,145,476 (GRCm39) |
E544* |
probably null |
Het |
| Vmn2r17 |
T |
C |
5: 109,600,505 (GRCm39) |
V601A |
probably damaging |
Het |
| Zc3h13 |
C |
T |
14: 75,565,418 (GRCm39) |
R844W |
unknown |
Het |
| Zfpm1 |
A |
C |
8: 123,034,231 (GRCm39) |
D55A |
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 |
|
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 |
|
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'- AGCCTTGGCATCTAAGAAGTTAGG -3'
(R):5'- TGTTGGGACTGCAAACTGCTC -3'
Sequencing Primer
(F):5'- GAGATAATGGAAATGACTAAGACACC -3'
(R):5'- TGCAAACTGCTCCGACTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation