Incidental Mutation 'R5303:Acss3'
| ID |
404362 |
| 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 |
042886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R5303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106920712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 133
(T133S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044668]
[ENSMUST00000165067]
|
| AlphaFold |
Q14DH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044668
AA Change: T133S
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: T133S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
112 |
496 |
4.6e-67 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165067
AA Change: T133S
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: T133S
| 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 |
0.1012 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
| 4921504E06Rik |
A |
G |
2: 19,521,110 (GRCm39) |
Y256H |
possibly damaging |
Het |
| Abcc12 |
C |
A |
8: 87,236,415 (GRCm39) |
R1133L |
probably benign |
Het |
| Adra1d |
G |
A |
2: 131,388,169 (GRCm39) |
P462L |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,739,453 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,290,349 (GRCm39) |
R1748Q |
probably damaging |
Het |
| B3glct |
C |
T |
5: 149,677,488 (GRCm39) |
|
probably benign |
Het |
| C3ar1 |
A |
T |
6: 122,826,794 (GRCm39) |
S474R |
probably damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,905,427 (GRCm39) |
F189L |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,744,707 (GRCm39) |
I344V |
probably benign |
Het |
| Chrna1 |
T |
C |
2: 73,396,618 (GRCm39) |
M426V |
probably benign |
Het |
| Cinp |
G |
A |
12: 110,843,295 (GRCm39) |
T139M |
probably damaging |
Het |
| Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
| Disp2 |
T |
C |
2: 118,641,329 (GRCm39) |
|
probably benign |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,537 (GRCm39) |
R173H |
probably damaging |
Het |
| Eapp |
G |
A |
12: 54,739,703 (GRCm39) |
P38L |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,853,873 (GRCm39) |
S480P |
probably benign |
Het |
| Epb41l3 |
G |
C |
17: 69,564,444 (GRCm39) |
E390Q |
probably damaging |
Het |
| Fermt1 |
T |
C |
2: 132,753,259 (GRCm39) |
|
probably null |
Het |
| Foxf2 |
T |
A |
13: 31,810,463 (GRCm39) |
F134Y |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,324,636 (GRCm39) |
C95S |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria1 |
A |
G |
11: 57,133,851 (GRCm39) |
T577A |
probably benign |
Het |
| Hal |
A |
G |
10: 93,352,227 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
C |
A |
15: 97,695,899 (GRCm39) |
E670D |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,115,558 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,335,663 (GRCm39) |
Y2258H |
probably benign |
Het |
| Mical3 |
G |
T |
6: 120,936,941 (GRCm39) |
T1195K |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,092,843 (GRCm39) |
S46P |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,077,105 (GRCm39) |
I444F |
probably damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,781,478 (GRCm39) |
C644S |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,368,631 (GRCm39) |
V553M |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,884 (GRCm39) |
I213T |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,345 (GRCm39) |
I242F |
possibly damaging |
Het |
| Or51a43 |
T |
C |
7: 103,718,239 (GRCm39) |
|
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,139 (GRCm39) |
Y121* |
probably null |
Het |
| Postn |
A |
G |
3: 54,285,018 (GRCm39) |
T669A |
probably damaging |
Het |
| Ppp5c |
G |
T |
7: 16,739,209 (GRCm39) |
Q472K |
probably benign |
Het |
| Qsox1 |
T |
C |
1: 155,655,039 (GRCm39) |
H708R |
probably benign |
Het |
| Rhbdl2 |
A |
G |
4: 123,704,014 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,767,907 (GRCm39) |
E2884K |
probably damaging |
Het |
| Saysd1 |
T |
C |
14: 20,133,026 (GRCm39) |
T44A |
probably benign |
Het |
| Septin14 |
T |
A |
5: 129,766,712 (GRCm39) |
M290L |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc38a8 |
C |
A |
8: 120,212,780 (GRCm39) |
V294L |
possibly damaging |
Het |
| Spdye4b |
C |
T |
5: 143,188,158 (GRCm39) |
T217I |
probably benign |
Het |
| Sugp2 |
T |
A |
8: 70,694,827 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,370,464 (GRCm39) |
T232A |
probably benign |
Het |
| Tbc1d5 |
A |
T |
17: 51,043,228 (GRCm39) |
D753E |
probably benign |
Het |
| Tmed1 |
G |
T |
9: 21,421,343 (GRCm39) |
Q44K |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,622,606 (GRCm39) |
S2T |
possibly damaging |
Het |
| Ube4b |
T |
C |
4: 149,468,260 (GRCm39) |
D172G |
probably damaging |
Het |
| Vmn1r235 |
C |
A |
17: 21,482,268 (GRCm39) |
Q198K |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,100,849 (GRCm39) |
H256R |
probably damaging |
Het |
| Zfat |
A |
T |
15: 67,982,335 (GRCm39) |
H1059Q |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,593,842 (GRCm39) |
I77M |
probably benign |
Het |
| Zfp850 |
C |
T |
7: 27,707,838 (GRCm39) |
A2T |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,830 (GRCm39) |
N188K |
probably damaging |
Het |
| Zyg11a |
C |
T |
4: 108,041,629 (GRCm39) |
|
probably null |
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 |
|
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'- TCCGCCTGGATATCAGTGATAAC -3'
(R):5'- TTCTGTAGCCAACACTGTCCTAAG -3'
Sequencing Primer
(F):5'- CTCTATAATAACCAAGAGAGAGAGA -3'
(R):5'- CTGTCCTAAGGAAATCTATGGCAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation