Incidental Mutation 'R8878:Acss2'
| ID |
676676 |
| 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 |
068746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R8878 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 155398324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 348
(H348Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000103142]
[ENSMUST00000133654]
|
| AlphaFold |
Q9QXG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029135
AA Change: H348Q
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: H348Q
| 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
AA Change: H348Q
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: H348Q
| 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: H361Q
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: H361Q
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (73/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
T |
A |
4: 126,357,516 (GRCm39) |
Y53F |
probably benign |
Het |
| Arrdc5 |
A |
G |
17: 56,601,342 (GRCm39) |
L261P |
probably benign |
Het |
| Asb2 |
C |
A |
12: 103,290,138 (GRCm39) |
W551L |
possibly damaging |
Het |
| Atl2 |
T |
C |
17: 80,160,232 (GRCm39) |
I452V |
probably benign |
Het |
| Atxn7l3 |
T |
C |
11: 102,183,545 (GRCm39) |
S203G |
probably benign |
Het |
| Bche |
A |
G |
3: 73,608,506 (GRCm39) |
F307L |
probably benign |
Het |
| C6 |
T |
C |
15: 4,826,454 (GRCm39) |
V679A |
probably benign |
Het |
| Cd163 |
A |
T |
6: 124,297,469 (GRCm39) |
N872Y |
probably damaging |
Het |
| Cdkal1 |
C |
A |
13: 29,658,607 (GRCm39) |
V380F |
probably damaging |
Het |
| Ceacam11 |
A |
T |
7: 17,709,536 (GRCm39) |
I245L |
probably benign |
Het |
| Ceacam16 |
G |
T |
7: 19,592,656 (GRCm39) |
T84K |
possibly damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,227,351 (GRCm39) |
Q172L |
probably benign |
Het |
| Chga |
T |
G |
12: 102,527,720 (GRCm39) |
S125A |
possibly damaging |
Het |
| Col9a1 |
T |
C |
1: 24,236,048 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
A |
16: 59,380,547 (GRCm39) |
A236S |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 15,960,528 (GRCm39) |
Y3296H |
probably damaging |
Het |
| Cyp2j8 |
C |
A |
4: 96,358,807 (GRCm39) |
V371L |
possibly damaging |
Het |
| Des |
C |
A |
1: 75,337,137 (GRCm39) |
L26M |
unknown |
Het |
| Edc3 |
A |
G |
9: 57,623,484 (GRCm39) |
S140G |
possibly damaging |
Het |
| Fam161a |
C |
T |
11: 22,970,092 (GRCm39) |
T90I |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,173,522 (GRCm39) |
Y1945H |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,257,318 (GRCm39) |
V350I |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,899,649 (GRCm39) |
C235R |
possibly damaging |
Het |
| Gk2 |
T |
C |
5: 97,604,341 (GRCm39) |
K166E |
probably benign |
Het |
| Gm12258 |
G |
A |
11: 58,750,112 (GRCm39) |
R429H |
unknown |
Het |
| Gm7247 |
T |
G |
14: 51,666,210 (GRCm39) |
|
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,414,932 (GRCm39) |
Y59C |
probably damaging |
Het |
| Has1 |
G |
T |
17: 18,070,321 (GRCm39) |
A200E |
possibly damaging |
Het |
| Hbs1l |
T |
C |
10: 21,234,711 (GRCm39) |
I588T |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 180,874,560 (GRCm39) |
V1978A |
possibly damaging |
Het |
| Hoxb9 |
T |
C |
11: 96,165,557 (GRCm39) |
Y209H |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,421,345 (GRCm39) |
D706G |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,035,720 (GRCm39) |
V137A |
probably benign |
Het |
| Ifngr2 |
T |
C |
16: 91,359,847 (GRCm39) |
I318T |
probably benign |
Het |
| Iqgap3 |
C |
T |
3: 88,020,532 (GRCm39) |
T1290I |
probably damaging |
Het |
| Jrk |
A |
T |
15: 74,578,988 (GRCm39) |
V99E |
probably benign |
Het |
| Kalrn |
G |
A |
16: 34,025,696 (GRCm39) |
T931M |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,018,830 (GRCm39) |
P1311S |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,850,561 (GRCm39) |
|
probably benign |
Het |
| Klk1b9 |
T |
C |
7: 43,443,782 (GRCm39) |
F99L |
possibly damaging |
Het |
| Lamb3 |
T |
C |
1: 193,013,124 (GRCm39) |
C450R |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,815,661 (GRCm39) |
S1182T |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,138,125 (GRCm39) |
V2933A |
probably damaging |
Het |
| Map2k5 |
A |
T |
9: 63,250,667 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
A |
G |
1: 128,283,248 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
G |
A |
5: 129,683,378 (GRCm39) |
V505M |
probably damaging |
Het |
| Mpped2 |
A |
G |
2: 106,575,065 (GRCm39) |
D50G |
probably damaging |
Het |
| Mtf1 |
T |
A |
4: 124,715,023 (GRCm39) |
L216* |
probably null |
Het |
| Niban2 |
A |
T |
2: 32,811,105 (GRCm39) |
M372L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,890,638 (GRCm39) |
E7298G |
unknown |
Het |
| Or52ab7 |
A |
T |
7: 102,978,212 (GRCm39) |
H173L |
possibly damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,763 (GRCm39) |
L280P |
probably damaging |
Het |
| Or6c205 |
T |
C |
10: 129,086,883 (GRCm39) |
L160P |
probably benign |
Het |
| Or7d9 |
A |
G |
9: 20,197,358 (GRCm39) |
D129G |
probably damaging |
Het |
| Otulinl |
T |
A |
15: 27,664,884 (GRCm39) |
H24L |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,777,215 (GRCm39) |
|
probably null |
Het |
| Pcnt |
T |
A |
10: 76,244,675 (GRCm39) |
E1135V |
probably damaging |
Het |
| Pgap3 |
A |
T |
11: 98,281,924 (GRCm39) |
V129D |
probably benign |
Het |
| Polq |
A |
G |
16: 36,860,869 (GRCm39) |
N497S |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,227,122 (GRCm39) |
T1138A |
|
Het |
| Prickle4 |
A |
G |
17: 48,001,587 (GRCm39) |
L32P |
|
Het |
| Prl2c2 |
C |
T |
13: 13,171,896 (GRCm39) |
G158R |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,210,750 (GRCm39) |
I752T |
probably benign |
Het |
| Sag |
A |
T |
1: 87,756,158 (GRCm39) |
Y255F |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,199 (GRCm39) |
D1563E |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,837,404 (GRCm39) |
N855S |
probably benign |
Het |
| Setd2 |
T |
C |
9: 110,421,467 (GRCm39) |
V2011A |
probably benign |
Het |
| Slc30a6 |
T |
C |
17: 74,730,112 (GRCm39) |
V334A |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,204,520 (GRCm39) |
V1369A |
unknown |
Het |
| Stac2 |
T |
C |
11: 97,932,373 (GRCm39) |
T207A |
probably benign |
Het |
| Syne2 |
T |
C |
12: 75,952,067 (GRCm39) |
V445A |
probably benign |
Het |
| Tas2r131 |
C |
A |
6: 132,934,467 (GRCm39) |
W114L |
probably damaging |
Het |
| Tgfbrap1 |
G |
A |
1: 43,088,959 (GRCm39) |
R815* |
probably null |
Het |
| Trpv2 |
A |
T |
11: 62,481,112 (GRCm39) |
I404L |
probably benign |
Het |
| Zfp236 |
G |
A |
18: 82,617,122 (GRCm39) |
T1791M |
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 |
|
|
R8481:Acss2
|
UTSW |
2 |
155,398,381 (GRCm39) |
nonsense |
probably null |
|
|
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'- CAGATGCTGTGAAAGGGCATTG -3'
(R):5'- AAGTGGGTTCCTGTATAAGTTTCCC -3'
Sequencing Primer
(F):5'- CTGTGCAGGCTCTATTTG -3'
(R):5'- CCTGTATAAGTTTCCCTTCTTTAGAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation