Incidental Mutation 'R5743:Acss2'
| ID |
445649 |
| 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 |
043353-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R5743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 155416536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065973]
[ENSMUST00000079691]
[ENSMUST00000126322]
[ENSMUST00000130881]
[ENSMUST00000155347]
|
| AlphaFold |
Q9QXG4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000065973
AA Change: N693S
|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: N693S
| 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 benign
Transcript: ENSMUST00000079691
|
| SMART Domains |
Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
12 |
472 |
6.7e-131 |
PFAM |
|
Pfam:GSH_synthase
|
204 |
302 |
2.5e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126322
|
| SMART Domains |
Protein: ENSMUSP00000117266
Gene: ENSMUSG00000027610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
1 |
197 |
1.2e-63 |
PFAM |
|
Pfam:GSH_synthase
|
160 |
200 |
3.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130881
|
| SMART Domains |
Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
1 |
404 |
9.2e-130 |
PFAM |
|
Pfam:GSH_synthase
|
133 |
233 |
9e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176415
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157008
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155347
|
| SMART Domains |
Protein: ENSMUSP00000122662
Gene: ENSMUSG00000027610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
5 |
179 |
1.8e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175993
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankef1 |
A |
G |
2: 136,391,629 (GRCm39) |
|
probably null |
Het |
| Arhgap20 |
T |
A |
9: 51,728,027 (GRCm39) |
M80K |
probably benign |
Het |
| Arhgap29 |
T |
G |
3: 121,775,560 (GRCm39) |
L37R |
probably damaging |
Het |
| Baiap3 |
G |
A |
17: 25,463,759 (GRCm39) |
P906S |
probably benign |
Het |
| Caskin2 |
T |
A |
11: 115,693,115 (GRCm39) |
N603I |
possibly damaging |
Het |
| Catspere2 |
G |
T |
1: 177,950,328 (GRCm39) |
|
silent |
Het |
| Ccdc159 |
A |
T |
9: 21,840,686 (GRCm39) |
E84D |
probably benign |
Het |
| Ccl1 |
T |
G |
11: 82,067,712 (GRCm39) |
S73R |
possibly damaging |
Het |
| Cdh20 |
G |
T |
1: 110,036,575 (GRCm39) |
C585F |
probably damaging |
Het |
| Cga |
T |
C |
4: 34,904,108 (GRCm39) |
|
probably null |
Het |
| Coq5 |
A |
C |
5: 115,417,941 (GRCm39) |
E57A |
probably benign |
Het |
| Cstf1 |
T |
A |
2: 172,219,753 (GRCm39) |
L288Q |
probably damaging |
Het |
| Ctsll3 |
G |
T |
13: 60,948,815 (GRCm39) |
Q47K |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,420,803 (GRCm39) |
Q539L |
probably benign |
Het |
| Fbxo46 |
C |
A |
7: 18,870,420 (GRCm39) |
D346E |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,407 (GRCm39) |
T1567S |
probably damaging |
Het |
| Glce |
T |
A |
9: 61,977,822 (GRCm39) |
T21S |
probably damaging |
Het |
| Gm19402 |
C |
T |
10: 77,526,516 (GRCm39) |
D26N |
probably damaging |
Het |
| Gm20830 |
A |
G |
Y: 6,916,664 (GRCm39) |
Y152H |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,895,784 (GRCm39) |
Y1011H |
probably benign |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Il31ra |
G |
T |
13: 112,664,021 (GRCm39) |
T552K |
possibly damaging |
Het |
| Itga2 |
A |
G |
13: 115,021,042 (GRCm39) |
V86A |
probably damaging |
Het |
| Kcnk4 |
A |
T |
19: 6,905,723 (GRCm39) |
N81K |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,297,221 (GRCm39) |
D3247Y |
probably damaging |
Het |
| Maml3 |
G |
T |
3: 52,011,553 (GRCm39) |
F4L |
unknown |
Het |
| Mcpt1 |
A |
T |
14: 56,256,072 (GRCm39) |
H37L |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,339,425 (GRCm39) |
M1V |
probably null |
Het |
| Myom2 |
A |
T |
8: 15,130,914 (GRCm39) |
K283N |
possibly damaging |
Het |
| Nrxn1 |
C |
A |
17: 90,950,652 (GRCm39) |
R509L |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,736 (GRCm39) |
Y30F |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,363 (GRCm39) |
|
probably null |
Het |
| Or8c13 |
C |
A |
9: 38,092,014 (GRCm39) |
C35F |
probably benign |
Het |
| Or8h8 |
C |
A |
2: 86,753,549 (GRCm39) |
G109V |
probably benign |
Het |
| Orc6 |
A |
T |
8: 86,029,585 (GRCm39) |
Q43L |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,692,862 (GRCm39) |
S874L |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,160 (GRCm39) |
D670G |
probably damaging |
Het |
| Pcdhga9 |
A |
T |
18: 37,871,859 (GRCm39) |
I563F |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,333,511 (GRCm39) |
S373T |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,841,836 (GRCm39) |
D190G |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,411,314 (GRCm39) |
Y280N |
probably damaging |
Het |
| Rasl10a |
T |
A |
11: 5,009,519 (GRCm39) |
D102E |
probably benign |
Het |
| Rgs1 |
T |
C |
1: 144,121,110 (GRCm39) |
Y187C |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,478,846 (GRCm39) |
W557R |
probably damaging |
Het |
| Sh2b3 |
A |
T |
5: 121,966,520 (GRCm39) |
L198H |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,379 (GRCm39) |
T429K |
probably benign |
Het |
| Slc35f1 |
T |
G |
10: 52,965,546 (GRCm39) |
D320E |
probably benign |
Het |
| Smug1 |
C |
A |
15: 103,066,043 (GRCm39) |
|
probably null |
Het |
| Spata31f3 |
G |
A |
4: 42,873,087 (GRCm39) |
T68I |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,512 (GRCm39) |
Y311* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,096,223 (GRCm39) |
T1466A |
possibly damaging |
Het |
| Tmem130 |
A |
G |
5: 144,687,749 (GRCm39) |
S196P |
probably damaging |
Het |
| Trim30d |
A |
T |
7: 104,121,535 (GRCm39) |
C176* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,169,159 (GRCm39) |
H1100R |
probably benign |
Het |
| Vezt |
A |
T |
10: 93,832,957 (GRCm39) |
F151L |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,396,234 (GRCm39) |
T538A |
possibly damaging |
Het |
| Zc3h3 |
G |
T |
15: 75,651,380 (GRCm39) |
C638* |
probably null |
Het |
| Zfp128 |
C |
T |
7: 12,618,654 (GRCm39) |
R51C |
probably damaging |
Het |
| Zfp141 |
T |
G |
7: 42,125,855 (GRCm39) |
I206L |
possibly damaging |
Het |
| Zfp369 |
G |
T |
13: 65,443,494 (GRCm39) |
K324N |
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 |
|
R4010: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 |
|
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'- TGTTTCAAACACAAGCCCTTCC -3'
(R):5'- CATGAGCAGAGTGGTTCAGG -3'
Sequencing Primer
(F):5'- ATAAGGCCAGTGTTTTACAGTGCC -3'
(R):5'- TGGTTCAGGGTACAAAGCG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation