Incidental Mutation 'R4010:Acss2'
| ID |
311629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acss2
|
| Ensembl Gene |
ENSMUSG00000027605 |
| Gene Name |
acyl-CoA synthetase short-chain family member 2 |
| Synonyms |
Acas2, Acas1, AceCS1, acetyl-CoA synthetase 1, ACAS, Acs1 |
| MMRRC Submission |
040947-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R4010 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155399548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 529
(L529Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000103142]
[ENSMUST00000133654]
|
| AlphaFold |
Q9QXG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029135
AA Change: L516Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: L516Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
108 |
575 |
1.9e-96 |
PFAM |
|
Pfam:AMP-binding_C
|
583 |
661 |
2.4e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065973
AA Change: L516Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: L516Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
108 |
575 |
4.8e-98 |
PFAM |
|
Pfam:AMP-binding_C
|
583 |
660 |
3.1e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103142
AA Change: L529Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: L529Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACAS_N
|
47 |
107 |
8.1e-21 |
PFAM |
|
Pfam:AMP-binding
|
108 |
588 |
4.7e-97 |
PFAM |
|
Pfam:AMP-binding_C
|
596 |
674 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148685
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151781
|
| SMART Domains |
Protein: ENSMUSP00000122545
Gene: ENSMUSG00000027605
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
1 |
187 |
1.2e-32 |
PFAM |
|
Pfam:AMP-binding
|
187 |
292 |
1.2e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.9721 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
C |
5: 88,120,136 (GRCm39) |
S298P |
probably damaging |
Het |
| Abca13 |
G |
A |
11: 9,572,013 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,818,303 (GRCm39) |
N1263S |
possibly damaging |
Het |
| Adamts12 |
A |
G |
15: 11,286,169 (GRCm39) |
T793A |
possibly damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,407,569 (GRCm39) |
D360V |
possibly damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,178 (GRCm39) |
M405L |
probably benign |
Het |
| Frmd6 |
A |
G |
12: 70,946,327 (GRCm39) |
N585S |
probably benign |
Het |
| Fxr1 |
G |
T |
3: 34,119,171 (GRCm39) |
R580L |
probably benign |
Het |
| Ggt7 |
G |
A |
2: 155,342,652 (GRCm39) |
T358M |
probably benign |
Het |
| Gm5435 |
G |
A |
12: 82,543,089 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,936,052 (GRCm39) |
H185Y |
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,002,165 (GRCm39) |
C90S |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,950,131 (GRCm39) |
S1424F |
probably benign |
Het |
| Map2k2 |
T |
C |
10: 80,944,769 (GRCm39) |
S94P |
probably damaging |
Het |
| Marveld2 |
C |
A |
13: 100,747,936 (GRCm39) |
|
probably null |
Het |
| Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
| Pdcl |
T |
C |
2: 37,242,123 (GRCm39) |
Y209C |
probably damaging |
Het |
| Pde6c |
A |
G |
19: 38,157,884 (GRCm39) |
E636G |
probably damaging |
Het |
| Pggt1b |
A |
G |
18: 46,382,003 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,496 (GRCm39) |
S1610R |
possibly damaging |
Het |
| Rel |
C |
T |
11: 23,711,138 (GRCm39) |
V10I |
probably benign |
Het |
| Rpa2 |
T |
A |
4: 132,497,960 (GRCm39) |
|
probably null |
Het |
| Rpain |
T |
G |
11: 70,863,833 (GRCm39) |
|
probably benign |
Het |
| Rpl35rt |
T |
C |
1: 156,193,724 (GRCm39) |
V26A |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,794,549 (GRCm39) |
T1237A |
probably benign |
Het |
| Safb |
T |
C |
17: 56,910,765 (GRCm39) |
|
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,428,263 (GRCm39) |
Q2320R |
probably null |
Het |
| Sh2d4a |
C |
T |
8: 68,787,799 (GRCm39) |
R302C |
probably damaging |
Het |
| Slc19a2 |
T |
G |
1: 164,088,451 (GRCm39) |
S300A |
probably damaging |
Het |
| Slc30a5 |
G |
A |
13: 100,945,741 (GRCm39) |
A537V |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,955,584 (GRCm39) |
I717V |
possibly damaging |
Het |
| Supt16 |
A |
C |
14: 52,401,898 (GRCm39) |
F924C |
probably damaging |
Het |
| Tekt4 |
T |
G |
17: 25,695,460 (GRCm39) |
M431R |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,317,526 (GRCm39) |
|
probably benign |
Het |
| Tspear |
T |
C |
10: 77,672,310 (GRCm39) |
|
probably benign |
Het |
| Usp39 |
C |
A |
6: 72,313,468 (GRCm39) |
A241S |
probably benign |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,450 (GRCm39) |
L18F |
possibly damaging |
Het |
| Zfp213 |
T |
C |
17: 23,777,064 (GRCm39) |
H326R |
possibly damaging |
Het |
| Zfp354c |
T |
A |
11: 50,705,771 (GRCm39) |
I435F |
probably damaging |
Het |
| Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
probably benign |
Het |
|
| Other mutations in Acss2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01146:Acss2
|
APN |
2 |
155,403,957 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02333:Acss2
|
APN |
2 |
155,397,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03278:Acss2
|
APN |
2 |
155,403,921 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03392:Acss2
|
APN |
2 |
155,403,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Acss2
|
UTSW |
2 |
155,415,100 (GRCm39) |
missense |
unknown |
|
|
BB019:Acss2
|
UTSW |
2 |
155,415,100 (GRCm39) |
missense |
unknown |
|
|
R1159:Acss2
|
UTSW |
2 |
155,393,138 (GRCm39) |
missense |
probably benign |
|
|
R1293:Acss2
|
UTSW |
2 |
155,393,141 (GRCm39) |
missense |
probably benign |
|
|
R1639:Acss2
|
UTSW |
2 |
155,398,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1725:Acss2
|
UTSW |
2 |
155,398,764 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1834:Acss2
|
UTSW |
2 |
155,400,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Acss2
|
UTSW |
2 |
155,400,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Acss2
|
UTSW |
2 |
155,400,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2361:Acss2
|
UTSW |
2 |
155,400,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3899:Acss2
|
UTSW |
2 |
155,399,157 (GRCm39) |
splice site |
probably benign |
|
|
R4008:Acss2
|
UTSW |
2 |
155,399,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4009:Acss2
|
UTSW |
2 |
155,399,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4011:Acss2
|
UTSW |
2 |
155,399,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4031:Acss2
|
UTSW |
2 |
155,399,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4117:Acss2
|
UTSW |
2 |
155,398,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Acss2
|
UTSW |
2 |
155,398,283 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4756:Acss2
|
UTSW |
2 |
155,403,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4895:Acss2
|
UTSW |
2 |
155,392,401 (GRCm39) |
splice site |
probably benign |
|
|
R5327:Acss2
|
UTSW |
2 |
155,415,149 (GRCm39) |
missense |
probably null |
|
|
R5654:Acss2
|
UTSW |
2 |
155,416,575 (GRCm39) |
unclassified |
probably benign |
|
|
R5717:Acss2
|
UTSW |
2 |
155,403,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Acss2
|
UTSW |
2 |
155,416,536 (GRCm39) |
unclassified |
probably benign |
|
|
R5773:Acss2
|
UTSW |
2 |
155,416,614 (GRCm39) |
splice site |
probably null |
|
|
R5825:Acss2
|
UTSW |
2 |
155,391,098 (GRCm39) |
splice site |
probably null |
|
|
R5979:Acss2
|
UTSW |
2 |
155,364,029 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6525:Acss2
|
UTSW |
2 |
155,392,337 (GRCm39) |
missense |
probably benign |
|
|
R6551:Acss2
|
UTSW |
2 |
155,393,128 (GRCm39) |
missense |
probably benign |
|
|
R6785:Acss2
|
UTSW |
2 |
155,402,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Acss2
|
UTSW |
2 |
155,397,929 (GRCm39) |
splice site |
probably null |
|
|
R7074:Acss2
|
UTSW |
2 |
155,363,961 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7372:Acss2
|
UTSW |
2 |
155,399,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7448:Acss2
|
UTSW |
2 |
155,360,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7528:Acss2
|
UTSW |
2 |
155,399,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7541:Acss2
|
UTSW |
2 |
155,416,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7543:Acss2
|
UTSW |
2 |
155,391,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7754:Acss2
|
UTSW |
2 |
155,403,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7846:Acss2
|
UTSW |
2 |
155,402,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7932:Acss2
|
UTSW |
2 |
155,415,100 (GRCm39) |
missense |
unknown |
|
|
R8011:Acss2
|
UTSW |
2 |
155,397,877 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8424:Acss2
|
UTSW |
2 |
155,416,538 (GRCm39) |
missense |
unknown |
|
|
R8481:Acss2
|
UTSW |
2 |
155,398,381 (GRCm39) |
nonsense |
probably null |
|
|
R8878:Acss2
|
UTSW |
2 |
155,398,324 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8956:Acss2
|
UTSW |
2 |
155,391,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9463:Acss2
|
UTSW |
2 |
155,392,032 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9545:Acss2
|
UTSW |
2 |
155,403,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acss2
|
UTSW |
2 |
155,359,877 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAGAGCTGGGAGGAATTTG -3'
(R):5'- TGAATACAGGCAGGCTGACTC -3'
Sequencing Primer
(F):5'- CTGGGAGGAATTTGGGGCTC -3'
(R):5'- TGACTCCAGAGCCTACATGATTAGTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation