Incidental Mutation 'R1639:Acss2'
| ID |
173356 |
| 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 |
039675-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R1639 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 155398828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 425
(T425N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000103142]
[ENSMUST00000133654]
|
| AlphaFold |
Q9QXG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029135
AA Change: T425N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: T425N
| 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: T425N
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: T425N
| 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: T438N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: T438N
| 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: ENSMUST00000148685
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151781
AA Change: T229N
|
| SMART Domains |
Protein: ENSMUSP00000122545
Gene: ENSMUSG00000027605
AA Change: T229N
| 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 |
0.0587 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
96% (66/69) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
A |
8: 25,142,168 (GRCm39) |
I203L |
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,143,879 (GRCm39) |
M181T |
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,277,280 (GRCm39) |
I1045N |
probably damaging |
Het |
| Ap3d1 |
C |
T |
10: 80,565,844 (GRCm39) |
V108I |
probably damaging |
Het |
| Arl8a |
C |
T |
1: 135,080,561 (GRCm39) |
R57* |
probably null |
Het |
| Atp12a |
A |
T |
14: 56,621,525 (GRCm39) |
D720V |
possibly damaging |
Het |
| Brpf3 |
T |
C |
17: 29,043,042 (GRCm39) |
|
probably null |
Het |
| C2 |
T |
C |
17: 35,091,379 (GRCm39) |
K95E |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,352,965 (GRCm39) |
|
probably null |
Het |
| Cebpz |
T |
A |
17: 79,242,035 (GRCm39) |
I540L |
possibly damaging |
Het |
| Cep128 |
A |
G |
12: 91,333,142 (GRCm39) |
V41A |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,580,642 (GRCm39) |
E56G |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,310 (GRCm39) |
V127A |
probably benign |
Het |
| Cyp2b23 |
A |
G |
7: 26,385,842 (GRCm39) |
V5A |
possibly damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,743,956 (GRCm39) |
Y459H |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,345,932 (GRCm39) |
|
noncoding transcript |
Het |
| Ddx24 |
T |
C |
12: 103,377,578 (GRCm39) |
|
probably null |
Het |
| Dgki |
C |
T |
6: 36,914,299 (GRCm39) |
C757Y |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,485,051 (GRCm39) |
L306H |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,421,216 (GRCm39) |
N378S |
probably benign |
Het |
| Espl1 |
C |
T |
15: 102,229,149 (GRCm39) |
T1767I |
probably damaging |
Het |
| Fbn2 |
C |
A |
18: 58,191,534 (GRCm39) |
A1530S |
probably benign |
Het |
| Fndc11 |
A |
G |
2: 180,863,374 (GRCm39) |
S60G |
possibly damaging |
Het |
| Glb1l |
G |
T |
1: 75,176,245 (GRCm39) |
Q612K |
probably benign |
Het |
| Gpsm1 |
A |
G |
2: 26,235,199 (GRCm39) |
E371G |
probably damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,476,697 (GRCm39) |
|
probably null |
Het |
| Itch |
A |
G |
2: 155,020,945 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
C |
13: 114,993,832 (GRCm39) |
T774A |
probably benign |
Het |
| Kit |
A |
G |
5: 75,813,467 (GRCm39) |
I881V |
probably damaging |
Het |
| Lpar5 |
T |
C |
6: 125,058,564 (GRCm39) |
L95P |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,430,529 (GRCm39) |
T1511A |
possibly damaging |
Het |
| Mgat4c |
T |
C |
10: 102,214,142 (GRCm39) |
Y42H |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,268 (GRCm39) |
T109K |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,199 (GRCm39) |
E308G |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,857,530 (GRCm39) |
S1085P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,840,987 (GRCm39) |
H956R |
probably benign |
Het |
| Ncoa7 |
A |
C |
10: 30,577,988 (GRCm39) |
L132R |
probably damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Or4a81 |
T |
C |
2: 89,619,589 (GRCm39) |
T36A |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,404,351 (GRCm39) |
V2327M |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,887,436 (GRCm39) |
Y59H |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,592,615 (GRCm39) |
F152I |
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,416,996 (GRCm39) |
Y1016F |
probably damaging |
Het |
| Spata31d1c |
T |
A |
13: 65,183,853 (GRCm39) |
V465D |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,931,416 (GRCm39) |
C208R |
probably damaging |
Het |
| Stambpl1 |
T |
G |
19: 34,213,707 (GRCm39) |
V312G |
probably benign |
Het |
| Stim1 |
T |
A |
7: 102,003,748 (GRCm39) |
D60E |
probably benign |
Het |
| Syt13 |
T |
A |
2: 92,776,316 (GRCm39) |
V201D |
probably benign |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
C |
8: 34,060,845 (GRCm39) |
S366P |
possibly damaging |
Het |
| Tex56 |
T |
C |
13: 35,128,233 (GRCm39) |
I150T |
possibly damaging |
Het |
| Tpte |
G |
A |
8: 22,810,913 (GRCm39) |
R190H |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,934,060 (GRCm39) |
V188A |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,654,244 (GRCm39) |
D542G |
probably damaging |
Het |
| Vps33b |
T |
A |
7: 79,934,101 (GRCm39) |
I257N |
probably damaging |
Het |
| Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
| Zc3h11a |
G |
T |
1: 133,552,446 (GRCm39) |
Q554K |
probably benign |
Het |
| Zfp947 |
T |
C |
17: 22,365,074 (GRCm39) |
K200R |
probably benign |
Het |
| Zscan12 |
T |
A |
13: 21,553,156 (GRCm39) |
C327S |
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 |
|
|
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 |
PCR Primer
(F):5'- AGGAACCCACTTCCTGGAGAAAGAG -3'
(R):5'- TAGGAGCCAAAATGCACATGCAGTC -3'
Sequencing Primer
(F):5'- CACTTCCTGGAGAAAGAGGAATTTTG -3'
(R):5'- GCACATGCAGTCAGAGTTCC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation