Incidental Mutation 'R1159:Acss2'
| ID |
101935 |
| 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 |
039232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R1159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155393138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 288
(I288T)
|
| 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: I288T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: I288T
| 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 |
noncoding transcript
Transcript: ENSMUST00000175715
|
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,115,137 (GRCm39) |
H164Y |
probably damaging |
Het |
| Akap9 |
C |
T |
5: 4,010,865 (GRCm39) |
R541C |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,229,222 (GRCm39) |
|
probably benign |
Het |
| Anp32b |
T |
C |
4: 46,471,478 (GRCm39) |
|
probably benign |
Het |
| Avil |
T |
C |
10: 126,847,659 (GRCm39) |
V528A |
possibly damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cdk10 |
T |
C |
8: 123,955,062 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
A |
T |
1: 74,968,499 (GRCm39) |
F111Y |
probably damaging |
Het |
| Cryge |
A |
G |
1: 65,089,967 (GRCm39) |
F72L |
probably benign |
Het |
| Ercc3 |
C |
T |
18: 32,397,611 (GRCm39) |
T614I |
possibly damaging |
Het |
| Fgd5 |
T |
C |
6: 91,965,483 (GRCm39) |
I572T |
probably benign |
Het |
| Fubp1 |
A |
G |
3: 151,921,229 (GRCm39) |
D88G |
possibly damaging |
Het |
| Gcnt1 |
C |
A |
19: 17,307,168 (GRCm39) |
V186F |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,138,162 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,781,602 (GRCm39) |
M426V |
possibly damaging |
Het |
| Hps5 |
A |
T |
7: 46,421,978 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
G |
A |
16: 21,880,603 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,358,607 (GRCm39) |
S215P |
probably damaging |
Het |
| Mfsd13b |
T |
C |
7: 120,613,766 (GRCm39) |
M421T |
probably damaging |
Het |
| Mtif2 |
C |
A |
11: 29,490,729 (GRCm39) |
R478S |
possibly damaging |
Het |
| Nadk2 |
G |
A |
15: 9,106,925 (GRCm39) |
R351H |
possibly damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,274,169 (GRCm39) |
D167G |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,580,568 (GRCm39) |
S701T |
unknown |
Het |
| Pramel17 |
T |
C |
4: 101,695,224 (GRCm39) |
E29G |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,000,057 (GRCm39) |
S830P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,727,921 (GRCm39) |
L2690* |
probably null |
Het |
| Rgs22 |
A |
T |
15: 36,040,839 (GRCm39) |
S883T |
probably damaging |
Het |
| Rxfp4 |
A |
G |
3: 88,559,894 (GRCm39) |
W186R |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,395,476 (GRCm39) |
S200P |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,855,212 (GRCm39) |
D295E |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 119,996,301 (GRCm39) |
V932A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,430,329 (GRCm38) |
S1568P |
possibly damaging |
Het |
| Tox |
T |
G |
4: 6,697,600 (GRCm39) |
N401T |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,933,412 (GRCm39) |
|
probably null |
Het |
| Unc79 |
T |
G |
12: 103,013,311 (GRCm39) |
|
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,613 (GRCm39) |
I599N |
probably benign |
Het |
| Zfa-ps |
T |
A |
10: 52,419,654 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation