Incidental Mutation 'R7528:Acss2'
| ID |
583112 |
| 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 |
045600-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R7528 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 155399066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 443
(N443H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000103142]
[ENSMUST00000133654]
|
| AlphaFold |
Q9QXG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029135
AA Change: N443H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: N443H
| 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 damaging
Transcript: ENSMUST00000065973
AA Change: N443H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: N443H
| 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 damaging
Transcript: ENSMUST00000103142
AA Change: N456H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: N456H
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122545
Gene: ENSMUSG00000027605
AA Change: N247H
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,767,317 (GRCm39) |
E920G |
probably damaging |
Het |
| Adam3 |
C |
A |
8: 25,167,279 (GRCm39) |
A71S |
unknown |
Het |
| Agpat3 |
A |
G |
10: 78,123,746 (GRCm39) |
L38P |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Amtn |
C |
A |
5: 88,526,711 (GRCm39) |
|
probably null |
Het |
| App |
T |
G |
16: 84,775,146 (GRCm39) |
Y497S |
possibly damaging |
Het |
| Bphl |
T |
A |
13: 34,244,473 (GRCm39) |
Y197N |
probably damaging |
Het |
| Btrc |
T |
A |
19: 45,491,525 (GRCm39) |
M160K |
possibly damaging |
Het |
| Ccdc181 |
A |
C |
1: 164,107,527 (GRCm39) |
N70T |
probably benign |
Het |
| Cd55b |
T |
C |
1: 130,347,473 (GRCm39) |
N113D |
possibly damaging |
Het |
| Ctrb1 |
T |
A |
8: 112,413,783 (GRCm39) |
I194F |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,391,622 (GRCm39) |
H691R |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,056,164 (GRCm39) |
V1579A |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,333,603 (GRCm39) |
F5030I |
probably damaging |
Het |
| Eppk1 |
G |
A |
15: 76,004,308 (GRCm39) |
|
probably benign |
Het |
| Fbxw4 |
T |
C |
19: 45,648,449 (GRCm39) |
E7G |
unknown |
Het |
| Fos |
T |
A |
12: 85,522,432 (GRCm39) |
C154S |
probably damaging |
Het |
| Foxh1 |
A |
G |
15: 76,553,511 (GRCm39) |
V97A |
probably benign |
Het |
| Gmeb1 |
G |
A |
4: 131,959,361 (GRCm39) |
T231I |
possibly damaging |
Het |
| Golga3 |
T |
A |
5: 110,360,098 (GRCm39) |
V1112E |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,017 (GRCm39) |
D430G |
possibly damaging |
Het |
| Hpse2 |
T |
C |
19: 42,801,463 (GRCm39) |
D441G |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,107,204 (GRCm39) |
W460* |
probably null |
Het |
| Ifi204 |
T |
C |
1: 173,579,406 (GRCm39) |
I480V |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,080,743 (GRCm39) |
V849A |
possibly damaging |
Het |
| Kars1 |
T |
C |
8: 112,737,866 (GRCm39) |
D12G |
probably benign |
Het |
| Klhdc7a |
A |
T |
4: 139,694,828 (GRCm39) |
Y40N |
probably damaging |
Het |
| Krtap5-3 |
T |
C |
7: 141,755,219 (GRCm39) |
C19R |
unknown |
Het |
| Macf1 |
G |
A |
4: 123,325,852 (GRCm39) |
A5217V |
possibly damaging |
Het |
| Mlc1 |
A |
T |
15: 88,858,710 (GRCm39) |
I146N |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,270,925 (GRCm39) |
R129* |
probably null |
Het |
| Nsun4 |
G |
T |
4: 115,891,391 (GRCm39) |
Y329* |
probably null |
Het |
| Or4k1 |
A |
G |
14: 50,377,277 (GRCm39) |
V273A |
possibly damaging |
Het |
| Or56a3b |
T |
C |
7: 104,771,071 (GRCm39) |
Y136H |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,329,646 (GRCm39) |
R1214H |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,144,928 (GRCm39) |
Y845* |
probably null |
Het |
| Pik3c2a |
A |
G |
7: 115,993,474 (GRCm39) |
I431T |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,494,464 (GRCm39) |
S1894G |
probably damaging |
Het |
| Ppp1r7 |
C |
T |
1: 93,282,123 (GRCm39) |
Q225* |
probably null |
Het |
| Ppp4r1 |
C |
A |
17: 66,120,493 (GRCm39) |
T209K |
probably damaging |
Het |
| Prc1 |
T |
C |
7: 79,950,183 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
G |
1: 11,274,316 (GRCm39) |
D1329E |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,659,528 (GRCm39) |
R1375H |
probably benign |
Het |
| Rab24 |
A |
T |
13: 55,468,921 (GRCm39) |
C87S |
probably damaging |
Het |
| Rnf43 |
A |
T |
11: 87,622,954 (GRCm39) |
Y558F |
probably benign |
Het |
| Serpinb6e |
T |
C |
13: 34,016,474 (GRCm39) |
I420V |
possibly damaging |
Het |
| Slain2 |
C |
A |
5: 73,072,143 (GRCm39) |
S59* |
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,105,731 (GRCm39) |
D576G |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,141,960 (GRCm39) |
M11T |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,731,460 (GRCm39) |
D238G |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,395,427 (GRCm38) |
Y337* |
probably null |
Het |
| Trav15-2-dv6-2 |
A |
C |
14: 53,887,308 (GRCm39) |
Y76S |
probably benign |
Het |
| Vmn1r172 |
G |
T |
7: 23,359,189 (GRCm39) |
G25C |
probably damaging |
Het |
| Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
C |
4: 144,818,492 (GRCm39) |
E3125G |
|
Het |
| Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,061 (GRCm39) |
T1245A |
probably benign |
Het |
| Zfp960 |
C |
T |
17: 17,307,825 (GRCm39) |
H180Y |
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 |
|
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 |
|
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'- AGCACGGTCCTTTGTGATG -3'
(R):5'- AGCAGAACCAGGTTTCATGGG -3'
Sequencing Primer
(F):5'- AGCACGGTCCTTTGTGATGTTTTC -3'
(R):5'- AGAACCAGGTTTCATGGGTGTGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation