Incidental Mutation 'R8481:Acss2'
ID |
657513 |
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 |
067925-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.226)
|
Stock # |
R8481 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 155398381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 380
(Y380*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000103142]
[ENSMUST00000133654]
|
AlphaFold |
Q9QXG4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029135
AA Change: Y367*
|
SMART Domains |
Protein: ENSMUSP00000029135 Gene: ENSMUSG00000027605 AA Change: Y367*
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 null
Transcript: ENSMUST00000065973
AA Change: Y367*
|
SMART Domains |
Protein: ENSMUSP00000068776 Gene: ENSMUSG00000027605 AA Change: Y367*
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 null
Transcript: ENSMUST00000103142
AA Change: Y380*
|
SMART Domains |
Protein: ENSMUSP00000099431 Gene: ENSMUSG00000027605 AA Change: Y380*
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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (45/46) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
T |
A |
12: 8,044,807 (GRCm39) |
|
probably null |
Het |
Aste1 |
G |
A |
9: 105,274,189 (GRCm39) |
R143Q |
possibly damaging |
Het |
BC024139 |
T |
C |
15: 76,004,882 (GRCm39) |
D598G |
probably damaging |
Het |
Bpifb9a |
T |
C |
2: 154,111,399 (GRCm39) |
V551A |
probably benign |
Het |
Ccdc88b |
A |
T |
19: 6,831,900 (GRCm39) |
L427Q |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,412,569 (GRCm39) |
V301A |
probably benign |
Het |
Chuk |
G |
T |
19: 44,084,678 (GRCm39) |
H306Q |
probably benign |
Het |
Cryzl1 |
C |
A |
16: 91,504,161 (GRCm39) |
E69* |
probably null |
Het |
Cul5 |
A |
T |
9: 53,558,123 (GRCm39) |
D160E |
probably benign |
Het |
Dlec1 |
G |
A |
9: 118,972,335 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
G |
14: 26,575,753 (GRCm39) |
M2954V |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,419,941 (GRCm39) |
D3746E |
probably benign |
Het |
Dnm1 |
A |
G |
2: 32,230,490 (GRCm39) |
V108A |
probably benign |
Het |
Dpp9 |
C |
A |
17: 56,501,467 (GRCm39) |
D582Y |
possibly damaging |
Het |
Evi2 |
T |
A |
11: 79,406,288 (GRCm39) |
|
probably benign |
Het |
Got2 |
T |
A |
8: 96,615,152 (GRCm39) |
|
probably benign |
Het |
Gria2 |
A |
T |
3: 80,708,998 (GRCm39) |
H61Q |
possibly damaging |
Het |
Hnrnpa2b1 |
C |
T |
6: 51,444,391 (GRCm39) |
V8I |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,072,629 (GRCm39) |
I354V |
possibly damaging |
Het |
Letm2 |
T |
C |
8: 26,070,375 (GRCm39) |
K421R |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,404,779 (GRCm39) |
D1974G |
probably damaging |
Het |
Magi2 |
A |
T |
5: 20,594,152 (GRCm39) |
E5D |
possibly damaging |
Het |
Mprip |
T |
A |
11: 59,648,982 (GRCm39) |
Y895* |
probably null |
Het |
Myo5c |
T |
C |
9: 75,208,726 (GRCm39) |
F1679S |
probably damaging |
Het |
Neb |
T |
C |
2: 52,114,597 (GRCm39) |
K4221E |
probably damaging |
Het |
Nek4 |
A |
G |
14: 30,685,991 (GRCm39) |
Y308C |
probably damaging |
Het |
Nrsn1 |
T |
C |
13: 25,437,598 (GRCm39) |
N110S |
probably damaging |
Het |
Or11a4 |
T |
A |
17: 37,536,295 (GRCm39) |
I93K |
probably damaging |
Het |
Or4k40 |
T |
A |
2: 111,250,994 (GRCm39) |
I101F |
possibly damaging |
Het |
Padi2 |
A |
G |
4: 140,660,564 (GRCm39) |
Q348R |
probably benign |
Het |
Pdgfrb |
C |
T |
18: 61,198,814 (GRCm39) |
T324I |
probably benign |
Het |
Pon3 |
C |
T |
6: 5,221,715 (GRCm39) |
R305H |
probably benign |
Het |
Prlhr |
A |
G |
19: 60,456,125 (GRCm39) |
V147A |
possibly damaging |
Het |
Ptpn21 |
T |
C |
12: 98,655,153 (GRCm39) |
T605A |
probably benign |
Het |
Rabep1 |
T |
C |
11: 70,777,953 (GRCm39) |
S162P |
probably damaging |
Het |
Rgs7bp |
A |
G |
13: 105,190,716 (GRCm39) |
S3P |
probably damaging |
Het |
Sec24d |
T |
A |
3: 123,147,073 (GRCm39) |
L677H |
probably damaging |
Het |
Slc13a3 |
T |
C |
2: 165,275,958 (GRCm39) |
R263G |
probably damaging |
Het |
Slu7 |
C |
A |
11: 43,328,320 (GRCm39) |
L45M |
probably damaging |
Het |
Slu7 |
T |
A |
11: 43,328,321 (GRCm39) |
L45Q |
probably damaging |
Het |
Sp140 |
A |
G |
1: 85,569,512 (GRCm39) |
D374G |
probably damaging |
Het |
Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
Tex36 |
A |
T |
7: 133,189,189 (GRCm39) |
S128T |
probably damaging |
Het |
Tpbg |
T |
C |
9: 85,726,138 (GRCm39) |
S36P |
unknown |
Het |
Tubgcp2 |
C |
A |
7: 139,613,588 (GRCm39) |
D30Y |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,932 (GRCm39) |
S162P |
probably 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 |
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 |
|
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'- TTTTCCAGCTCTGTGCAGGC -3'
(R):5'- CTCACGTTCAGGATTCACCC -3'
Sequencing Primer
(F):5'- CAGCTCTGTGCAGGCTCTATTTG -3'
(R):5'- AGGATTCACCCTTTATGACCAACTG -3'
|
Posted On |
2021-01-18 |