Incidental Mutation 'R6785:Acss2'
| ID |
531602 |
| 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 |
044899-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R6785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155402605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 587
(V587A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000079691]
[ENSMUST00000103142]
[ENSMUST00000130881]
[ENSMUST00000133654]
|
| AlphaFold |
Q9QXG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029135
AA Change: V574A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: V574A
| 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: V574A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: V574A
| 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 damaging
Transcript: ENSMUST00000103142
AA Change: V587A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: V587A
| 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: 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175993
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
98% (59/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Acad12 |
T |
C |
5: 121,747,908 (GRCm39) |
Y170C |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,171,212 (GRCm39) |
I422V |
probably damaging |
Het |
| Aldh18a1 |
A |
G |
19: 40,556,788 (GRCm39) |
L375P |
probably damaging |
Het |
| B020011L13Rik |
A |
G |
1: 117,728,799 (GRCm39) |
D102G |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,538,481 (GRCm39) |
|
probably benign |
Het |
| Coa4 |
G |
A |
7: 100,188,460 (GRCm39) |
V58M |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,875,167 (GRCm39) |
N647S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,596,113 (GRCm39) |
G1547S |
probably damaging |
Het |
| Espnl |
A |
G |
1: 91,249,943 (GRCm39) |
D30G |
probably benign |
Het |
| Fasl |
T |
A |
1: 161,609,404 (GRCm39) |
Y194F |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,230,754 (GRCm39) |
E349G |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,312,531 (GRCm39) |
V13A |
possibly damaging |
Het |
| Gm4559 |
A |
G |
7: 141,827,845 (GRCm39) |
C86R |
unknown |
Het |
| H2-M9 |
T |
C |
17: 36,953,125 (GRCm39) |
N61D |
probably damaging |
Het |
| H6pd |
C |
T |
4: 150,067,247 (GRCm39) |
E380K |
possibly damaging |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
C |
A |
5: 100,126,283 (GRCm39) |
K67N |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,235,709 (GRCm39) |
S170P |
probably damaging |
Het |
| Igsf10 |
G |
T |
3: 59,226,665 (GRCm39) |
P2336Q |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,634,572 (GRCm39) |
|
probably null |
Het |
| Katnb1 |
T |
C |
8: 95,822,270 (GRCm39) |
Y298H |
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,819,933 (GRCm39) |
N1610K |
probably damaging |
Het |
| Lce1l |
A |
T |
3: 92,757,500 (GRCm39) |
C119* |
probably null |
Het |
| Lcn2 |
C |
T |
2: 32,277,039 (GRCm39) |
|
probably null |
Het |
| Lmf2 |
A |
T |
15: 89,236,236 (GRCm39) |
S588T |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,688,835 (GRCm39) |
L231P |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,547 (GRCm39) |
R288G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,338,392 (GRCm39) |
V694A |
probably benign |
Het |
| Ndnf |
C |
A |
6: 65,680,047 (GRCm39) |
L109I |
probably benign |
Het |
| Nfkb1 |
C |
A |
3: 135,321,064 (GRCm39) |
E230D |
probably benign |
Het |
| Nostrin |
A |
G |
2: 69,014,271 (GRCm39) |
K409R |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,266,854 (GRCm39) |
Q22R |
probably benign |
Het |
| Or1j10 |
C |
A |
2: 36,266,963 (GRCm39) |
Y58* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,765 (GRCm39) |
M136L |
probably damaging |
Het |
| Pdpr |
C |
A |
8: 111,851,243 (GRCm39) |
T534N |
probably benign |
Het |
| Plekhf1 |
G |
A |
7: 37,921,488 (GRCm39) |
Q27* |
probably null |
Het |
| Ppp6c |
A |
T |
2: 39,087,593 (GRCm39) |
H204Q |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,536,670 (GRCm39) |
|
probably benign |
Het |
| Prrg2 |
A |
G |
7: 44,709,649 (GRCm39) |
F83L |
probably damaging |
Het |
| Rab11fip3 |
T |
G |
17: 26,210,692 (GRCm39) |
D938A |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,079,620 (GRCm39) |
N1228S |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,764,299 (GRCm39) |
T3060K |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,409,824 (GRCm39) |
I557T |
probably benign |
Het |
| Setdb1 |
C |
A |
3: 95,233,712 (GRCm39) |
R1066L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,049,066 (GRCm39) |
M1100V |
probably benign |
Het |
| Slc35f3 |
T |
C |
8: 127,121,198 (GRCm39) |
V353A |
probably benign |
Het |
| Slfn3 |
A |
T |
11: 83,105,427 (GRCm39) |
T475S |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,071,085 (GRCm39) |
M1122K |
possibly damaging |
Het |
| Tead4 |
T |
A |
6: 128,219,444 (GRCm39) |
K223* |
probably null |
Het |
| Tex2 |
A |
C |
11: 106,424,776 (GRCm39) |
I334R |
probably damaging |
Het |
| Tfdp1 |
C |
T |
8: 13,420,485 (GRCm39) |
R105W |
probably damaging |
Het |
| Tfdp1 |
G |
T |
8: 13,427,233 (GRCm39) |
V393F |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,358,644 (GRCm39) |
L26P |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,332,027 (GRCm39) |
I73T |
probably damaging |
Het |
| Tssk4 |
T |
A |
14: 55,887,932 (GRCm39) |
Y43N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,541,839 (GRCm39) |
T25389A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,578,288 (GRCm39) |
F24202I |
probably damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,562 (GRCm39) |
S105P |
probably damaging |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,203 (GRCm39) |
T697S |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,219,601 (GRCm39) |
C541* |
probably null |
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 |
|
|
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'- CCATCTTGAAGGCTGGATGC -3'
(R):5'- CCCTCTTGGTGTATGCTAGC -3'
Sequencing Primer
(F):5'- CATCTTGAAGGCTGGATGCTAAGG -3'
(R):5'- TGGTGTATGCTAGCATGAATTATAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation