Incidental Mutation 'R6551:Acss2'
ID |
521579 |
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 |
044676-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.226)
|
Stock # |
R6551 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155393128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 285
(S285P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099431
(fasta)
|
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
AA Change: S285P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099431 Gene: ENSMUSG00000027605 AA Change: S285P
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: ENSMUST00000143169
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175715
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
100% (41/41) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
T |
1: 192,856,831 (GRCm39) |
Q61L |
probably damaging |
Het |
Ager |
A |
G |
17: 34,818,442 (GRCm39) |
|
probably null |
Het |
Alkbh7 |
T |
A |
17: 57,305,945 (GRCm39) |
Y115* |
probably null |
Het |
Brwd1 |
T |
C |
16: 95,795,162 (GRCm39) |
D2184G |
possibly damaging |
Het |
Chp1 |
T |
A |
2: 119,402,294 (GRCm39) |
H89Q |
possibly damaging |
Het |
Clmp |
T |
C |
9: 40,682,573 (GRCm39) |
V119A |
probably benign |
Het |
Cryge |
A |
T |
1: 65,087,796 (GRCm39) |
M171K |
probably benign |
Het |
Cttnbp2nl |
A |
T |
3: 104,912,433 (GRCm39) |
S484T |
possibly damaging |
Het |
Dsg3 |
C |
A |
18: 20,672,968 (GRCm39) |
P880T |
unknown |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Espn |
T |
C |
4: 152,213,223 (GRCm39) |
|
|
Het |
Fbxo31 |
A |
C |
8: 122,291,443 (GRCm39) |
|
probably benign |
Het |
Grin2b |
A |
G |
6: 135,710,342 (GRCm39) |
V1068A |
probably damaging |
Het |
Jak1 |
C |
A |
4: 101,051,040 (GRCm39) |
|
probably benign |
Het |
Klra10 |
A |
T |
6: 130,252,718 (GRCm39) |
D185E |
probably benign |
Het |
Lhx1 |
A |
C |
11: 84,412,739 (GRCm39) |
D60E |
probably benign |
Het |
Lyar |
C |
A |
5: 38,390,616 (GRCm39) |
A326D |
probably damaging |
Het |
Muc16 |
A |
C |
9: 18,473,858 (GRCm39) |
S1280A |
possibly damaging |
Het |
Nol9 |
G |
A |
4: 152,136,325 (GRCm39) |
V466I |
possibly damaging |
Het |
Or10d1 |
C |
A |
9: 39,483,856 (GRCm39) |
R233L |
probably benign |
Het |
Or12e8 |
T |
C |
2: 87,677,005 (GRCm39) |
V130A |
possibly damaging |
Het |
Or1e17 |
T |
C |
11: 73,831,129 (GRCm39) |
I19T |
probably benign |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or2w3b |
A |
T |
11: 58,623,583 (GRCm39) |
M136K |
probably damaging |
Het |
Or2y10 |
G |
T |
11: 49,454,816 (GRCm39) |
V23L |
probably benign |
Het |
Pik3c2a |
A |
T |
7: 116,016,731 (GRCm39) |
I342N |
probably damaging |
Het |
Pnldc1 |
A |
G |
17: 13,124,456 (GRCm39) |
M133T |
probably damaging |
Het |
Rab11fip1 |
G |
A |
8: 27,646,512 (GRCm39) |
S188L |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 79,122,342 (GRCm39) |
|
probably null |
Het |
Rnf103 |
G |
A |
6: 71,487,349 (GRCm39) |
C660Y |
probably damaging |
Het |
Rph3al |
G |
A |
11: 75,797,372 (GRCm39) |
S108F |
possibly damaging |
Het |
Srsf7 |
A |
C |
17: 80,511,648 (GRCm39) |
|
probably benign |
Het |
Ssrp1 |
A |
G |
2: 84,871,450 (GRCm39) |
|
probably null |
Het |
Tamm41 |
T |
C |
6: 114,989,142 (GRCm39) |
D284G |
possibly damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tmem39b |
A |
G |
4: 129,585,896 (GRCm39) |
V25A |
probably benign |
Het |
Tmem88b |
G |
T |
4: 155,870,149 (GRCm39) |
|
probably benign |
Het |
Unk |
T |
C |
11: 115,941,550 (GRCm39) |
W266R |
probably damaging |
Het |
Usp8 |
T |
A |
2: 126,575,102 (GRCm39) |
|
probably benign |
Het |
Zbtb48 |
T |
G |
4: 152,106,678 (GRCm39) |
Q142P |
probably benign |
Het |
Zdhhc18 |
T |
C |
4: 133,340,960 (GRCm39) |
T267A |
probably benign |
Het |
Zfp335 |
G |
A |
2: 164,751,285 (GRCm39) |
P94S |
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 |
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 |
|
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'- TCGATTCTGGGTGCAGAAGG -3'
(R):5'- CCCTTCTGAATGACAGGGAC -3'
Sequencing Primer
(F):5'- ACTAGTGAGACTGGGGAGCCC -3'
(R):5'- CCTTCTGAATGACAGGGACATCAAG -3'
|
Posted On |
2018-06-06 |