Incidental Mutation 'R7541:Acss2'
| ID |
583876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acss2
|
| Ensembl Gene |
ENSMUSG00000027605 |
| Gene Name |
acyl-CoA synthetase short-chain family member 2 |
| Synonyms |
Acas1, acetyl-CoA synthetase 1, Acas2, AceCS1, ACAS, Acs1 |
| MMRRC Submission |
045613-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R7541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155517948-155585724 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 155574690 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065973]
[ENSMUST00000079691]
[ENSMUST00000126322]
[ENSMUST00000130881]
[ENSMUST00000155347]
|
| AlphaFold |
Q9QXG4 |
| Predicted Effect |
probably null
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: ENSMUST00000079691
|
| SMART Domains |
Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
12 |
472 |
6.7e-131 |
PFAM |
|
Pfam:GSH_synthase
|
204 |
302 |
2.5e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126322
|
| SMART Domains |
Protein: ENSMUSP00000117266
Gene: ENSMUSG00000027610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
1 |
197 |
1.2e-63 |
PFAM |
|
Pfam:GSH_synthase
|
160 |
200 |
3.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130881
|
| SMART Domains |
Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
1 |
404 |
9.2e-130 |
PFAM |
|
Pfam:GSH_synthase
|
133 |
233 |
9e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155347
|
| SMART Domains |
Protein: ENSMUSP00000122662
Gene: ENSMUSG00000027610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
5 |
179 |
1.8e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175993
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (51/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
G |
A |
17: 33,531,616 (GRCm38) |
R210H |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,167,616 (GRCm38) |
|
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,152,356 (GRCm38) |
M652K |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,961,571 (GRCm38) |
I560M |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,946,604 (GRCm38) |
D602G |
possibly damaging |
Het |
| Bnip5 |
G |
A |
17: 28,905,324 (GRCm38) |
R335W |
probably damaging |
Het |
| Cd200l2 |
T |
A |
16: 45,528,492 (GRCm38) |
T106S |
possibly damaging |
Het |
| Cdh4 |
A |
G |
2: 179,444,810 (GRCm38) |
|
probably null |
Het |
| Clasp1 |
T |
A |
1: 118,542,997 (GRCm38) |
|
probably null |
Het |
| Col6a6 |
A |
G |
9: 105,767,324 (GRCm38) |
I1255T |
probably damaging |
Het |
| Comp |
G |
T |
8: 70,381,350 (GRCm38) |
V672L |
probably damaging |
Het |
| Dbnl |
T |
G |
11: 5,795,486 (GRCm38) |
D122E |
probably damaging |
Het |
| Dgkz |
G |
A |
2: 91,942,675 (GRCm38) |
R346C |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,678,309 (GRCm38) |
R54C |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 105,306,714 (GRCm38) |
I121T |
probably damaging |
Het |
| Fam184b |
A |
G |
5: 45,542,232 (GRCm38) |
L614P |
probably damaging |
Het |
| Fbh1 |
T |
C |
2: 11,749,537 (GRCm38) |
R797G |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 28,144,256 (GRCm38) |
C856* |
probably null |
Het |
| Gata6 |
A |
G |
18: 11,059,108 (GRCm38) |
T392A |
probably damaging |
Het |
| Gm29609 |
A |
G |
5: 31,154,232 (GRCm38) |
F855S |
probably benign |
Het |
| Gm3424 |
T |
C |
14: 5,829,330 (GRCm38) |
N88D |
possibly damaging |
Het |
| Gnas |
T |
A |
2: 174,298,099 (GRCm38) |
S80T |
unknown |
Het |
| Hsd17b14 |
C |
A |
7: 45,566,146 (GRCm38) |
P190Q |
probably damaging |
Het |
| Iqch |
C |
T |
9: 63,445,521 (GRCm38) |
V955I |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,376,384 (GRCm38) |
V164A |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,438,634 (GRCm38) |
L46P |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 131,191,099 (GRCm38) |
M237V |
probably benign |
Het |
| Lmbr1l |
A |
T |
15: 98,909,386 (GRCm38) |
|
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,610,403 (GRCm38) |
I408V |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,295,965 (GRCm38) |
S365G |
unknown |
Het |
| Marchf2 |
A |
T |
17: 33,703,058 (GRCm38) |
C109* |
probably null |
Het |
| Metrnl |
T |
A |
11: 121,715,970 (GRCm38) |
C284S |
probably damaging |
Het |
| Mmachc |
G |
A |
4: 116,705,885 (GRCm38) |
T91I |
probably benign |
Het |
| Mrps7 |
T |
G |
11: 115,606,870 (GRCm38) |
M187R |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 27,067,040 (GRCm38) |
E845G |
probably damaging |
Het |
| Nscme3l |
G |
A |
19: 5,503,411 (GRCm38) |
P114L |
probably benign |
Het |
| Ooep |
T |
A |
9: 78,378,065 (GRCm38) |
T90S |
possibly damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,376 (GRCm38) |
D139E |
probably benign |
Het |
| Or2y1g |
T |
A |
11: 49,280,333 (GRCm38) |
F62I |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,491,609 (GRCm38) |
D664V |
probably damaging |
Het |
| Pigz |
T |
C |
16: 31,945,131 (GRCm38) |
S336P |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 25,116,128 (GRCm38) |
D71E |
probably benign |
Het |
| Reep6 |
G |
T |
10: 80,335,199 (GRCm38) |
R303L |
possibly damaging |
Het |
| Rmdn2 |
A |
T |
17: 79,627,868 (GRCm38) |
S137C |
|
Het |
| Rnf220 |
A |
T |
4: 117,489,930 (GRCm38) |
L95H |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,579,911 (GRCm38) |
|
probably benign |
Het |
| Stxbp1 |
A |
T |
2: 32,818,505 (GRCm38) |
S83T |
probably damaging |
Het |
| Tcstv7b |
A |
T |
13: 120,240,979 (GRCm38) |
M104L |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,505,582 (GRCm38) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,791,301 (GRCm38) |
D15598E |
probably damaging |
Het |
| Vav2 |
T |
A |
2: 27,275,002 (GRCm38) |
R645W |
probably damaging |
Het |
| Vmn1r169 |
T |
A |
7: 23,577,987 (GRCm38) |
V268D |
probably benign |
Het |
| Zp2 |
A |
T |
7: 120,136,056 (GRCm38) |
C365S |
probably damaging |
Het |
|
| Other mutations in Acss2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01146:Acss2
|
APN |
2 |
155,562,037 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL02333:Acss2
|
APN |
2 |
155,555,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03278:Acss2
|
APN |
2 |
155,562,001 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL03392:Acss2
|
APN |
2 |
155,562,011 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB009:Acss2
|
UTSW |
2 |
155,573,180 (GRCm38) |
missense |
unknown |
|
|
BB019:Acss2
|
UTSW |
2 |
155,573,180 (GRCm38) |
missense |
unknown |
|
|
R1159:Acss2
|
UTSW |
2 |
155,551,218 (GRCm38) |
missense |
probably benign |
|
|
R1293:Acss2
|
UTSW |
2 |
155,551,221 (GRCm38) |
missense |
probably benign |
|
|
R1639:Acss2
|
UTSW |
2 |
155,556,908 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1725:Acss2
|
UTSW |
2 |
155,556,844 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1834:Acss2
|
UTSW |
2 |
155,558,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1835:Acss2
|
UTSW |
2 |
155,558,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1836:Acss2
|
UTSW |
2 |
155,558,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2361:Acss2
|
UTSW |
2 |
155,558,669 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3899:Acss2
|
UTSW |
2 |
155,557,237 (GRCm38) |
splice site |
probably benign |
|
|
R4008:Acss2
|
UTSW |
2 |
155,557,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4009:Acss2
|
UTSW |
2 |
155,557,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4010:Acss2
|
UTSW |
2 |
155,557,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4011:Acss2
|
UTSW |
2 |
155,557,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4031:Acss2
|
UTSW |
2 |
155,557,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4117:Acss2
|
UTSW |
2 |
155,556,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4515:Acss2
|
UTSW |
2 |
155,556,363 (GRCm38) |
missense |
probably benign |
0.39 |
|
R4756:Acss2
|
UTSW |
2 |
155,561,143 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4895:Acss2
|
UTSW |
2 |
155,550,481 (GRCm38) |
splice site |
probably benign |
|
|
R5327:Acss2
|
UTSW |
2 |
155,573,229 (GRCm38) |
missense |
probably null |
|
|
R5654:Acss2
|
UTSW |
2 |
155,574,655 (GRCm38) |
unclassified |
probably benign |
|
|
R5717:Acss2
|
UTSW |
2 |
155,561,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5743:Acss2
|
UTSW |
2 |
155,574,616 (GRCm38) |
unclassified |
probably benign |
|
|
R5773:Acss2
|
UTSW |
2 |
155,574,694 (GRCm38) |
splice site |
probably null |
|
|
R5825:Acss2
|
UTSW |
2 |
155,549,178 (GRCm38) |
splice site |
probably null |
|
|
R5979:Acss2
|
UTSW |
2 |
155,522,109 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R6525:Acss2
|
UTSW |
2 |
155,550,417 (GRCm38) |
missense |
probably benign |
|
|
R6551:Acss2
|
UTSW |
2 |
155,551,208 (GRCm38) |
missense |
probably benign |
|
|
R6785:Acss2
|
UTSW |
2 |
155,560,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6976:Acss2
|
UTSW |
2 |
155,556,009 (GRCm38) |
splice site |
probably null |
|
|
R7074:Acss2
|
UTSW |
2 |
155,522,041 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7372:Acss2
|
UTSW |
2 |
155,557,180 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7448:Acss2
|
UTSW |
2 |
155,518,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7528:Acss2
|
UTSW |
2 |
155,557,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7543:Acss2
|
UTSW |
2 |
155,549,835 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7754:Acss2
|
UTSW |
2 |
155,561,166 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7846:Acss2
|
UTSW |
2 |
155,561,033 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7932:Acss2
|
UTSW |
2 |
155,573,180 (GRCm38) |
missense |
unknown |
|
|
R8011:Acss2
|
UTSW |
2 |
155,555,957 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8424:Acss2
|
UTSW |
2 |
155,574,618 (GRCm38) |
missense |
unknown |
|
|
R8481:Acss2
|
UTSW |
2 |
155,556,461 (GRCm38) |
nonsense |
probably null |
|
|
R8878:Acss2
|
UTSW |
2 |
155,556,404 (GRCm38) |
missense |
probably benign |
0.20 |
|
R8956:Acss2
|
UTSW |
2 |
155,549,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9463:Acss2
|
UTSW |
2 |
155,550,112 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9545:Acss2
|
UTSW |
2 |
155,561,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Acss2
|
UTSW |
2 |
155,517,957 (GRCm38) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGACATTGGCTTTGTATGC -3'
(R):5'- TGAGCCAGAGTCTGCAATTC -3'
Sequencing Primer
(F):5'- GGCTTTGTATGCTAATTATTTCTCAC -3'
(R):5'- ATTTTAACCGCCAGCCTGCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation