Incidental Mutation 'R4117:Acss2'
| ID | 315122 |
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| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Acss2
|
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| Ensembl Gene |
ENSMUSG00000027605 |
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| Gene Name | acyl-CoA synthetase short-chain family member 2 |
|---|
| Synonyms | Acas1, acetyl-CoA synthetase 1, Acas2, AceCS1, ACAS, Acs1 |
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| MMRRC Submission |
040991-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Possibly non essential (E-score: 0.357)
|
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| Stock # | R4117 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Validated
|
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| Chromosome | 2 |
|---|
| Chromosomal Location | 155517948-155585724 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 155556393 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Phenylalanine to Leucine
at position 358
(F358L)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000099431
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000103142]
[ENSMUST00000133654]
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029135
AA Change: F345L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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| SMART Domains |
Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: F345L
| 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 |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065973
AA Change: F345L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: F345L
| 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 |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103142
AA Change: F358L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: F358L
| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131054
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000133654
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148685
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000151781
|
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| 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 |
|
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| Meta Mutation Damage Score |
0.8718
|
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| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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| Validation Efficiency |
97% (31/32) |
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930444G20Rik |
T |
A |
10: 22,067,716 |
N122Y |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,767,992 |
Y775H |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,046,763 |
H594Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,712,500 |
|
probably benign |
Het |
| Cenpt |
G |
A |
8: 105,849,700 |
S73L |
probably benign |
Het |
| Ctdnep1 |
C |
A |
11: 69,988,671 |
A7D |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,351,566 |
S100P |
probably benign |
Het |
| Fyb |
A |
C |
15: 6,630,116 |
D434A |
probably damaging |
Het |
| Gm11127 |
T |
C |
17: 36,057,604 |
D144G |
probably damaging |
Het |
| Gm11492 |
T |
C |
11: 87,568,282 |
F494S |
probably damaging |
Het |
| Heph |
T |
C |
X: 96,500,615 |
V615A |
probably benign |
Het |
| Icam5 |
T |
A |
9: 21,037,590 |
V746E |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,705,934 |
Q192R |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 4,987,363 |
Y301C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,241,012 |
Q1767* |
probably null |
Het |
| Olfr561 |
T |
A |
7: 102,774,477 |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,348,042 |
R982G |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,360,888 |
H1005Q |
probably benign |
Het |
| Rdh12 |
C |
T |
12: 79,213,645 |
R172C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 |
C537R |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,015,596 |
D291E |
probably benign |
Het |
| She |
A |
T |
3: 89,852,372 |
Y394F |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 125,468,510 |
S830G |
probably damaging |
Het |
| Stmn4 |
T |
C |
14: 66,361,132 |
*217Q |
probably null |
Het |
| Stx17 |
A |
G |
4: 48,180,689 |
D178G |
probably damaging |
Het |
| Tbc1d9 |
T |
G |
8: 83,266,147 |
I960S |
possibly damaging |
Het |
| Ubxn10 |
G |
T |
4: 138,720,965 |
D133E |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,194,840 |
Y260C |
probably damaging |
Het |
| Vmn2r7 |
A |
C |
3: 64,715,717 |
|
probably benign |
Het |
| Zfp143 |
C |
T |
7: 110,091,913 |
T557I |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,698,682 |
I64V |
probably damaging |
Het |
|
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| Other mutations in Acss2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01146:Acss2
|
APN |
2 |
155562037 |
missense |
possibly damaging |
0.83 |
|
IGL02333:Acss2
|
APN |
2 |
155555884 |
missense |
probably damaging |
1.00 |
|
IGL03278:Acss2
|
APN |
2 |
155562001 |
missense |
possibly damaging |
0.64 |
|
IGL03392:Acss2
|
APN |
2 |
155562011 |
missense |
probably damaging |
1.00 |
|
R1159:Acss2
|
UTSW |
2 |
155551218 |
missense |
probably benign |
|
|
R1293:Acss2
|
UTSW |
2 |
155551221 |
missense |
probably benign |
|
|
R1639:Acss2
|
UTSW |
2 |
155556908 |
missense |
probably benign |
0.01 |
|
R1725:Acss2
|
UTSW |
2 |
155556844 |
missense |
possibly damaging |
0.56 |
|
R1834:Acss2
|
UTSW |
2 |
155558630 |
missense |
probably damaging |
1.00 |
|
R1835:Acss2
|
UTSW |
2 |
155558630 |
missense |
probably damaging |
1.00 |
|
R1836:Acss2
|
UTSW |
2 |
155558630 |
missense |
probably damaging |
1.00 |
|
R2361:Acss2
|
UTSW |
2 |
155558669 |
missense |
probably damaging |
0.98 |
|
R3899:Acss2
|
UTSW |
2 |
155557237 |
splice site |
probably benign |
|
|
R4008:Acss2
|
UTSW |
2 |
155557628 |
missense |
probably damaging |
1.00 |
|
R4009:Acss2
|
UTSW |
2 |
155557628 |
missense |
probably damaging |
1.00 |
|
R4010:Acss2
|
UTSW |
2 |
155557628 |
missense |
probably damaging |
1.00 |
|
R4011:Acss2
|
UTSW |
2 |
155557628 |
missense |
probably damaging |
1.00 |
|
R4031:Acss2
|
UTSW |
2 |
155557210 |
missense |
probably damaging |
1.00 |
|
R4515:Acss2
|
UTSW |
2 |
155556363 |
missense |
probably benign |
0.39 |
|
R4756:Acss2
|
UTSW |
2 |
155561143 |
missense |
probably damaging |
1.00 |
|
R4895:Acss2
|
UTSW |
2 |
155550481 |
splice site |
probably benign |
|
|
R5327:Acss2
|
UTSW |
2 |
155573229 |
missense |
probably null |
|
|
R5654:Acss2
|
UTSW |
2 |
155574655 |
unclassified |
probably benign |
|
|
R5717:Acss2
|
UTSW |
2 |
155561153 |
missense |
probably damaging |
1.00 |
|
R5743:Acss2
|
UTSW |
2 |
155574616 |
unclassified |
probably benign |
|
|
R5773:Acss2
|
UTSW |
2 |
155574694 |
splice site |
probably null |
|
|
R5825:Acss2
|
UTSW |
2 |
155549178 |
unclassified |
probably null |
|
|
R5979:Acss2
|
UTSW |
2 |
155522109 |
missense |
possibly damaging |
0.75 |
|
R6525:Acss2
|
UTSW |
2 |
155550417 |
missense |
probably benign |
|
|
R6551:Acss2
|
UTSW |
2 |
155551208 |
missense |
probably benign |
|
|
R6785:Acss2
|
UTSW |
2 |
155560685 |
missense |
probably damaging |
1.00 |
|
R6976:Acss2
|
UTSW |
2 |
155556009 |
intron |
probably null |
|
|
R7074:Acss2
|
UTSW |
2 |
155522041 |
missense |
possibly damaging |
0.94 |
|
R7372:Acss2
|
UTSW |
2 |
155557180 |
missense |
probably damaging |
0.99 |
|
R7448:Acss2
|
UTSW |
2 |
155518266 |
missense |
probably damaging |
1.00 |
|
R7528:Acss2
|
UTSW |
2 |
155557146 |
missense |
probably damaging |
1.00 |
|
R7541:Acss2
|
UTSW |
2 |
155574690 |
critical splice donor site |
probably null |
|
|
R7543:Acss2
|
UTSW |
2 |
155549835 |
missense |
probably damaging |
0.98 |
|
R7754:Acss2
|
UTSW |
2 |
155561166 |
missense |
probably benign |
0.00 |
|
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| Predicted Primers |
PCR Primer
(F):5'- ACTTATGTGACATCAGGGTGTG -3'
(R):5'- AGCTTTGGGAAATGGTCACC -3'
Sequencing Primer
(F):5'- CAGATGCTGTGAAAGGGCATTG -3'
(R):5'- CCAGGAGAATTTTGTCTATGCCCAG -3'
|
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| Posted On | 2015-05-14 |
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