Incidental Mutation 'R3899:Acss2'
| ID |
308855 |
| 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 |
040809-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R3899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 155399157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000103142]
[ENSMUST00000133654]
|
| AlphaFold |
Q9QXG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029135
|
| SMART Domains |
Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
| 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 benign
Transcript: ENSMUST00000065973
|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
| 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: ENSMUST00000103142
|
| SMART Domains |
Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
| 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 |
noncoding transcript
Transcript: ENSMUST00000131054
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (62/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,605,345 (GRCm39) |
S730P |
possibly damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,526,389 (GRCm39) |
R327S |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Apob |
A |
T |
12: 8,065,849 (GRCm39) |
I4273F |
possibly damaging |
Het |
| Ascl1 |
G |
T |
10: 87,328,435 (GRCm39) |
H172Q |
probably benign |
Het |
| Azi2 |
A |
G |
9: 117,876,571 (GRCm39) |
Y29C |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,981,589 (GRCm39) |
M355T |
probably benign |
Het |
| Brs3 |
G |
A |
X: 56,092,616 (GRCm39) |
V367M |
possibly damaging |
Het |
| Ccdc33 |
T |
C |
9: 57,940,200 (GRCm39) |
D524G |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,015,177 (GRCm39) |
T138A |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,029,678 (GRCm39) |
Y518C |
probably damaging |
Het |
| Chek2 |
C |
T |
5: 111,013,479 (GRCm39) |
|
probably benign |
Het |
| Cherp |
A |
G |
8: 73,223,780 (GRCm39) |
I201T |
possibly damaging |
Het |
| Cntnap2 |
A |
T |
6: 45,968,837 (GRCm39) |
H193L |
probably benign |
Het |
| Crim1 |
C |
A |
17: 78,588,783 (GRCm39) |
T286N |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,929,023 (GRCm39) |
K307* |
probably null |
Het |
| Dbx2 |
T |
C |
15: 95,530,313 (GRCm39) |
D218G |
possibly damaging |
Het |
| Dclk1 |
G |
A |
3: 55,154,750 (GRCm39) |
R60Q |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Dpp10 |
A |
T |
1: 123,281,286 (GRCm39) |
W588R |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,000,725 (GRCm39) |
E554K |
probably damaging |
Het |
| Eya1 |
T |
C |
1: 14,340,971 (GRCm39) |
T139A |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
| Foxd3 |
A |
G |
4: 99,545,736 (GRCm39) |
Y292C |
unknown |
Het |
| Gli1 |
C |
T |
10: 127,172,535 (GRCm39) |
M202I |
possibly damaging |
Het |
| Gm973 |
T |
C |
1: 59,664,299 (GRCm39) |
Y634H |
probably benign |
Het |
| Gpr132 |
G |
T |
12: 112,815,728 (GRCm39) |
A366E |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
C |
T |
15: 65,902,372 (GRCm39) |
M201I |
probably benign |
Het |
| Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,388,372 (GRCm39) |
V2351A |
unknown |
Het |
| Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
T |
13: 12,231,735 (GRCm39) |
N656K |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,536,166 (GRCm39) |
T517A |
probably benign |
Het |
| Osgep |
G |
C |
14: 51,162,200 (GRCm39) |
N12K |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,057,155 (GRCm39) |
C841S |
probably benign |
Het |
| Prdx3 |
T |
A |
19: 60,853,621 (GRCm39) |
T235S |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,628,635 (GRCm39) |
H608Y |
probably benign |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
| Slc24a1 |
A |
T |
9: 64,835,426 (GRCm39) |
S900R |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,954,655 (GRCm39) |
M170V |
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,668,616 (GRCm39) |
V732A |
probably benign |
Het |
| Slc7a2 |
C |
T |
8: 41,358,590 (GRCm39) |
T311M |
possibly damaging |
Het |
| Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
| Stk32b |
A |
G |
5: 37,614,498 (GRCm39) |
S337P |
probably damaging |
Het |
| Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
| Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
| Tmem45a |
T |
C |
16: 56,627,101 (GRCm39) |
E256G |
probably damaging |
Het |
| Tox4 |
T |
A |
14: 52,517,299 (GRCm39) |
Y10N |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,878,524 (GRCm39) |
M642V |
possibly damaging |
Het |
| Ttll10 |
T |
C |
4: 156,120,257 (GRCm39) |
T508A |
probably damaging |
Het |
| Tut7 |
T |
A |
13: 59,937,069 (GRCm39) |
K791* |
probably null |
Het |
| Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
| Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,873 (GRCm39) |
I709T |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,158 (GRCm39) |
N207K |
possibly damaging |
Het |
| Zfp946 |
T |
G |
17: 22,673,531 (GRCm39) |
I95S |
probably benign |
Het |
| Zhx3 |
A |
T |
2: 160,622,371 (GRCm39) |
S599T |
possibly damaging |
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 |
|
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 |
|
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'- TGGCTCCTAGTGGTTCTCAG -3'
(R):5'- GGCCAGAACCCTACTCTAATAG -3'
Sequencing Primer
(F):5'- GGCTCCTAGTGGTTCTCAGAATTTTC -3'
(R):5'- GAACCCTACTCTAATAGGCTAACAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation