Incidental Mutation 'R7846:Acss2'
| ID |
606595 |
| 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 |
045900-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R7846 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155402953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 577
(H577L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029135
(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: H577L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: H577L
| 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: H577L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: H577L
| 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: H590L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: H590L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
A |
G |
5: 100,954,698 (GRCm39) |
V247A |
probably damaging |
Het |
| Acot13 |
G |
T |
13: 25,002,133 (GRCm39) |
T103K |
probably damaging |
Het |
| Acsl6 |
A |
T |
11: 54,251,901 (GRCm39) |
I683F |
probably damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,614,638 (GRCm39) |
V382D |
probably damaging |
Het |
| Aldob |
T |
C |
4: 49,538,858 (GRCm39) |
H220R |
probably damaging |
Het |
| Ankrd1 |
C |
T |
19: 36,094,218 (GRCm39) |
V169M |
probably damaging |
Het |
| Atp5f1a |
G |
A |
18: 77,869,015 (GRCm39) |
R413H |
possibly damaging |
Het |
| Cep76 |
A |
G |
18: 67,762,975 (GRCm39) |
F283L |
probably damaging |
Het |
| Chrna5 |
A |
T |
9: 54,912,391 (GRCm39) |
D397V |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,488,400 (GRCm39) |
D90G |
probably damaging |
Het |
| Csnk1g3 |
A |
G |
18: 54,081,177 (GRCm39) |
N383D |
probably benign |
Het |
| Cwf19l2 |
C |
A |
9: 3,477,889 (GRCm39) |
Q865K |
probably damaging |
Het |
| Cyth2 |
C |
A |
7: 45,460,378 (GRCm39) |
W149C |
probably damaging |
Het |
| Dgkh |
C |
A |
14: 78,856,026 (GRCm39) |
R349L |
probably damaging |
Het |
| Dnajc1 |
G |
T |
2: 18,224,704 (GRCm39) |
T383N |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,605,571 (GRCm39) |
|
probably null |
Het |
| Extl3 |
A |
T |
14: 65,313,181 (GRCm39) |
M667K |
probably damaging |
Het |
| Fam149a |
G |
T |
8: 45,811,678 (GRCm39) |
A75E |
|
Het |
| Fgd4 |
T |
G |
16: 16,240,590 (GRCm39) |
Q713P |
probably damaging |
Het |
| Frat2 |
T |
A |
19: 41,836,215 (GRCm39) |
I46F |
probably damaging |
Het |
| Gzmc |
A |
G |
14: 56,469,017 (GRCm39) |
V234A |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,134 (GRCm39) |
N135D |
probably damaging |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,937 (GRCm39) |
V21D |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,955,320 (GRCm39) |
Q976R |
possibly damaging |
Het |
| Kcna6 |
A |
T |
6: 126,715,983 (GRCm39) |
V302E |
probably damaging |
Het |
| Kdm3b |
G |
T |
18: 34,942,293 (GRCm39) |
V795L |
possibly damaging |
Het |
| Kdm5b |
G |
A |
1: 134,545,578 (GRCm39) |
R913H |
probably damaging |
Het |
| Lpp |
T |
A |
16: 24,426,876 (GRCm39) |
M1K |
probably null |
Het |
| Med12l |
T |
C |
3: 59,172,355 (GRCm39) |
S1704P |
probably damaging |
Het |
| Mfsd10 |
G |
T |
5: 34,793,456 (GRCm39) |
S95* |
probably null |
Het |
| Napepld |
C |
T |
5: 21,880,721 (GRCm39) |
E225K |
probably benign |
Het |
| Ndfip2 |
T |
C |
14: 105,535,448 (GRCm39) |
F245L |
probably damaging |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,526 (GRCm39) |
H251R |
probably damaging |
Het |
| Or13a20 |
C |
T |
7: 140,232,374 (GRCm39) |
H161Y |
probably damaging |
Het |
| Or51i1 |
A |
G |
7: 103,670,736 (GRCm39) |
I263T |
possibly damaging |
Het |
| Or52z15 |
A |
G |
7: 103,332,407 (GRCm39) |
I161V |
probably benign |
Het |
| Or5p6 |
A |
G |
7: 107,631,199 (GRCm39) |
I117T |
probably benign |
Het |
| Or8b47 |
A |
G |
9: 38,435,675 (GRCm39) |
T216A |
probably benign |
Het |
| Pcdhgb2 |
A |
T |
18: 37,825,273 (GRCm39) |
I755F |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,622,490 (GRCm39) |
L1573P |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,713,650 (GRCm39) |
V524E |
probably damaging |
Het |
| Phc1 |
G |
T |
6: 122,310,329 (GRCm39) |
T126N |
probably damaging |
Het |
| Phf1 |
C |
A |
17: 27,154,291 (GRCm39) |
Y169* |
probably null |
Het |
| Pramel25 |
A |
T |
4: 143,520,563 (GRCm39) |
D269V |
probably benign |
Het |
| Prl3a1 |
G |
A |
13: 27,456,442 (GRCm39) |
E99K |
probably damaging |
Het |
| Prss57 |
G |
A |
10: 79,623,213 (GRCm39) |
A78V |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,119,453 (GRCm39) |
T196S |
probably benign |
Het |
| Rgsl1 |
A |
T |
1: 153,701,783 (GRCm39) |
C224S |
possibly damaging |
Het |
| Rtn4 |
T |
C |
11: 29,643,274 (GRCm39) |
V29A |
unknown |
Het |
| Selplg |
G |
A |
5: 113,957,481 (GRCm39) |
T275M |
probably damaging |
Het |
| Skint11 |
C |
T |
4: 114,102,076 (GRCm39) |
T363I |
possibly damaging |
Het |
| Slc22a29 |
T |
A |
19: 8,170,851 (GRCm39) |
I289F |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,776 (GRCm39) |
S552P |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,655,300 (GRCm39) |
K1480* |
probably null |
Het |
| Sptbn1 |
C |
A |
11: 30,092,153 (GRCm39) |
M537I |
probably damaging |
Het |
| Sqor |
A |
T |
2: 122,627,008 (GRCm39) |
H43L |
probably benign |
Het |
| Srcin1 |
C |
A |
11: 97,416,926 (GRCm39) |
E913* |
probably null |
Het |
| Srgap1 |
A |
G |
10: 121,621,397 (GRCm39) |
L1032P |
probably damaging |
Het |
| Stc2 |
T |
C |
11: 31,315,413 (GRCm39) |
K142R |
probably benign |
Het |
| Stox1 |
A |
C |
10: 62,495,305 (GRCm39) |
N989K |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,776,314 (GRCm39) |
L355H |
probably damaging |
Het |
| Tfb2m |
A |
G |
1: 179,358,926 (GRCm39) |
F319S |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,695,273 (GRCm39) |
F341L |
probably damaging |
Het |
| Ttk |
T |
C |
9: 83,725,732 (GRCm39) |
V218A |
probably benign |
Het |
| Vmn1r159 |
A |
G |
7: 22,542,696 (GRCm39) |
I112T |
probably benign |
Het |
| Vps8 |
C |
A |
16: 21,351,070 (GRCm39) |
Q916K |
probably benign |
Het |
| Wdr12 |
A |
T |
1: 60,121,225 (GRCm39) |
D364E |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,104,042 (GRCm39) |
E2019G |
probably damaging |
Het |
| Zfp267 |
C |
A |
3: 36,219,738 (GRCm39) |
T587N |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,963 (GRCm39) |
L360P |
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 |
|
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'- GCTAGCATACACCAAGAGGG -3'
(R):5'- AGTAACTTGCAGACCCTTCC -3'
Sequencing Primer
(F):5'- CATACACCAAGAGGGAGGGCC -3'
(R):5'- AGGAAGCTGCTTACTCTGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation