Incidental Mutation 'R5726:Acss3'
| ID |
452501 |
| 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 |
043344-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R5726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106959183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 88
(T88A)
|
| 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: T88A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: T88A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
112 |
496 |
4.6e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000065567
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165067
AA Change: T88A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: T88A
| 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 |
0.1187 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
T |
C |
7: 127,835,832 (GRCm39) |
K254E |
probably damaging |
Het |
| Aak1 |
C |
T |
6: 86,902,106 (GRCm39) |
Q92* |
probably null |
Het |
| Adcy4 |
A |
T |
14: 56,021,118 (GRCm39) |
S6R |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,348,170 (GRCm39) |
E311G |
possibly damaging |
Het |
| Arhgap25 |
C |
T |
6: 87,440,441 (GRCm39) |
S402N |
probably benign |
Het |
| Btn1a1 |
T |
A |
13: 23,643,522 (GRCm39) |
D309V |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,243,259 (GRCm39) |
V1037M |
probably damaging |
Het |
| Clcn2 |
T |
C |
16: 20,529,285 (GRCm39) |
|
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,174,673 (GRCm39) |
T276A |
probably null |
Het |
| CN725425 |
A |
G |
15: 91,144,706 (GRCm39) |
E523G |
possibly damaging |
Het |
| Crppa |
T |
C |
12: 36,597,829 (GRCm39) |
V320A |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,793,188 (GRCm39) |
T308S |
probably damaging |
Het |
| Dgkh |
G |
T |
14: 78,862,342 (GRCm39) |
F208L |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,273,613 (GRCm39) |
D846G |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,635,828 (GRCm39) |
|
probably null |
Het |
| Foxp4 |
A |
G |
17: 48,180,033 (GRCm39) |
Y623H |
unknown |
Het |
| Fxr2 |
T |
C |
11: 69,524,172 (GRCm39) |
V10A |
probably benign |
Het |
| Gm10271 |
T |
C |
10: 116,792,792 (GRCm39) |
|
probably null |
Het |
| Gsk3b |
T |
C |
16: 38,028,498 (GRCm39) |
|
probably benign |
Het |
| Ift43 |
T |
A |
12: 86,208,957 (GRCm39) |
D169E |
probably damaging |
Het |
| Ift57 |
T |
A |
16: 49,519,861 (GRCm39) |
L54H |
probably damaging |
Het |
| Ighv1-37 |
T |
C |
12: 114,860,294 (GRCm39) |
|
probably benign |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,339,491 (GRCm39) |
D1140G |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,135,546 (GRCm39) |
A1883T |
probably damaging |
Het |
| Map4k2 |
G |
T |
19: 6,401,362 (GRCm39) |
G611C |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,359,692 (GRCm39) |
|
probably benign |
Het |
| Myh14 |
A |
G |
7: 44,292,886 (GRCm39) |
|
probably null |
Het |
| Myh8 |
T |
A |
11: 67,185,392 (GRCm39) |
V881D |
possibly damaging |
Het |
| Myo1g |
G |
T |
11: 6,459,420 (GRCm39) |
Q817K |
probably benign |
Het |
| Nin |
A |
C |
12: 70,124,953 (GRCm39) |
V123G |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,548,195 (GRCm39) |
D976G |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,036,514 (GRCm39) |
|
probably null |
Het |
| Or5an1c |
A |
G |
19: 12,218,644 (GRCm39) |
I127T |
probably damaging |
Het |
| Phf14 |
T |
C |
6: 11,933,537 (GRCm39) |
|
probably benign |
Het |
| Podxl2 |
T |
C |
6: 88,825,721 (GRCm39) |
D400G |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,237,916 (GRCm39) |
W707* |
probably null |
Het |
| Rnf19b |
T |
C |
4: 128,965,685 (GRCm39) |
V261A |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,307,284 (GRCm39) |
Y648C |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,362,913 (GRCm39) |
R569H |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,742,626 (GRCm39) |
L761P |
probably damaging |
Het |
| Shroom3 |
C |
T |
5: 93,090,864 (GRCm39) |
P1124S |
probably benign |
Het |
| Sirt4 |
A |
G |
5: 115,617,705 (GRCm39) |
V317A |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,266,466 (GRCm39) |
Y238H |
probably damaging |
Het |
| Slc12a2 |
G |
T |
18: 58,029,426 (GRCm39) |
A271S |
probably benign |
Het |
| Slc6a9 |
A |
G |
4: 117,721,210 (GRCm39) |
Y208C |
probably damaging |
Het |
| Snap23 |
T |
A |
2: 120,414,752 (GRCm39) |
|
probably benign |
Het |
| Sra1 |
C |
T |
18: 36,803,226 (GRCm39) |
|
probably benign |
Het |
| Srbd1 |
C |
T |
17: 86,428,157 (GRCm39) |
D359N |
possibly damaging |
Het |
| Srp19 |
A |
G |
18: 34,464,826 (GRCm39) |
Y22C |
probably damaging |
Het |
| Sstr4 |
T |
C |
2: 148,238,003 (GRCm39) |
S205P |
probably damaging |
Het |
| Sv2b |
T |
C |
7: 74,773,962 (GRCm39) |
D503G |
possibly damaging |
Het |
| Tbc1d30 |
C |
T |
10: 121,103,479 (GRCm39) |
V518M |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,758,652 (GRCm39) |
K482E |
probably benign |
Het |
| Tpm1 |
G |
A |
9: 66,930,694 (GRCm39) |
L310F |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,830,981 (GRCm39) |
Y1282C |
probably damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,742,757 (GRCm39) |
L65* |
probably null |
Het |
| Ttc39c |
C |
A |
18: 12,830,992 (GRCm39) |
A284D |
probably damaging |
Het |
| Txndc16 |
G |
A |
14: 45,403,221 (GRCm39) |
H297Y |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,545,550 (GRCm39) |
D1698E |
probably benign |
Het |
| Vmn1r232 |
C |
T |
17: 21,133,601 (GRCm39) |
R333H |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,365,486 (GRCm39) |
D529E |
possibly damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,208,315 (GRCm39) |
V721I |
probably damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,276,119 (GRCm39) |
H484R |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,568,269 (GRCm39) |
S1187R |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,468,381 (GRCm39) |
D2846E |
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 |
|
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'- TTGGCAAGTCAACCTCTGTGG -3'
(R):5'- TTCAGTAAGAGGAGCCGCTG -3'
Sequencing Primer
(F):5'- AAGTCAACCTCTGTGGCACTG -3'
(R):5'- TAAGAGGAGCCGCTGTGACC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation