Incidental Mutation 'R6525:Acss2'
ID |
521675 |
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 |
044651-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.226)
|
Stock # |
R6525 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155392337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 261
(N261S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000103142]
[ENSMUST00000133654]
|
AlphaFold |
Q9QXG4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029135
AA Change: N261S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029135 Gene: ENSMUSG00000027605 AA Change: N261S
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: N261S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000068776 Gene: ENSMUSG00000027605 AA Change: N261S
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: N261S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099431 Gene: ENSMUSG00000027605 AA Change: N261S
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: ENSMUST00000143169
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151781
AA Change: N122S
|
SMART Domains |
Protein: ENSMUSP00000122545 Gene: ENSMUSG00000027605 AA Change: N122S
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 |
noncoding transcript
Transcript: ENSMUST00000148685
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175715
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.0%
|
Validation Efficiency |
96% (71/74) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,931,308 (GRCm39) |
E1447G |
probably benign |
Het |
Adcy8 |
C |
A |
15: 64,609,243 (GRCm39) |
G859* |
probably null |
Het |
Agbl3 |
A |
T |
6: 34,780,529 (GRCm39) |
K496* |
probably null |
Het |
Antxrl |
A |
T |
14: 33,782,363 (GRCm39) |
D182V |
probably damaging |
Het |
Arid5b |
A |
G |
10: 67,933,496 (GRCm39) |
L559P |
possibly damaging |
Het |
Azi2 |
T |
A |
9: 117,876,663 (GRCm39) |
S60T |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,176,048 (GRCm39) |
Y1931H |
probably damaging |
Het |
Cnga1 |
T |
A |
5: 72,775,574 (GRCm39) |
E49V |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,386,339 (GRCm39) |
N160D |
possibly damaging |
Het |
Crem |
C |
A |
18: 3,268,070 (GRCm39) |
R267L |
probably damaging |
Het |
Ddx52 |
T |
C |
11: 83,844,145 (GRCm39) |
|
probably null |
Het |
Ddx6 |
T |
C |
9: 44,534,926 (GRCm39) |
I127T |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,606,304 (GRCm39) |
Y2094N |
probably damaging |
Het |
Dst |
C |
A |
1: 34,202,216 (GRCm39) |
N181K |
probably damaging |
Het |
Dusp7 |
A |
G |
9: 106,246,483 (GRCm39) |
K163E |
possibly damaging |
Het |
Dynlt1a |
T |
A |
17: 6,362,014 (GRCm39) |
T55S |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,733,607 (GRCm39) |
N451S |
probably benign |
Het |
Faap100 |
C |
A |
11: 120,269,590 (GRCm39) |
|
probably null |
Het |
Fam53a |
T |
C |
5: 33,765,262 (GRCm39) |
N148S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,174,626 (GRCm39) |
D2029G |
probably damaging |
Het |
Flcn |
A |
T |
11: 59,684,998 (GRCm39) |
N484K |
possibly damaging |
Het |
Gbp10 |
T |
A |
5: 105,383,950 (GRCm39) |
E17D |
probably benign |
Het |
Gm14226 |
T |
C |
2: 154,867,003 (GRCm39) |
V320A |
possibly damaging |
Het |
Gna13 |
T |
C |
11: 109,286,765 (GRCm39) |
I196T |
probably damaging |
Het |
Gorasp1 |
G |
T |
9: 119,757,061 (GRCm39) |
P374T |
possibly damaging |
Het |
Hc |
T |
C |
2: 34,881,236 (GRCm39) |
D1461G |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,573,317 (GRCm39) |
N2111D |
probably damaging |
Het |
Hs3st3b1 |
G |
A |
11: 63,812,424 (GRCm39) |
S97L |
probably benign |
Het |
Hsdl2 |
A |
G |
4: 59,612,696 (GRCm39) |
T296A |
probably damaging |
Het |
Impg2 |
A |
G |
16: 56,025,512 (GRCm39) |
D48G |
probably damaging |
Het |
Kbtbd12 |
A |
T |
6: 88,591,062 (GRCm39) |
N383K |
probably benign |
Het |
Kcnj12 |
T |
G |
11: 60,960,397 (GRCm39) |
F232V |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
Ldhb |
T |
C |
6: 142,436,191 (GRCm39) |
D326G |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,505,432 (GRCm39) |
L607S |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,217,074 (GRCm39) |
S388P |
probably damaging |
Het |
Mansc4 |
A |
G |
6: 146,976,645 (GRCm39) |
S324P |
probably benign |
Het |
Meltf |
G |
A |
16: 31,707,717 (GRCm39) |
W368* |
probably null |
Het |
Nacad |
A |
G |
11: 6,552,255 (GRCm39) |
L312P |
probably damaging |
Het |
Ndc1 |
G |
T |
4: 107,225,304 (GRCm39) |
G7W |
probably benign |
Het |
Nmral1 |
T |
A |
16: 4,532,296 (GRCm39) |
K172* |
probably null |
Het |
Nol9 |
G |
T |
4: 152,123,906 (GRCm39) |
R32L |
probably damaging |
Het |
Nsun5 |
A |
G |
5: 135,403,912 (GRCm39) |
Y296C |
probably damaging |
Het |
Or4k51 |
C |
T |
2: 111,585,329 (GRCm39) |
T245I |
probably benign |
Het |
Oscp1 |
A |
G |
4: 125,970,571 (GRCm39) |
D120G |
possibly damaging |
Het |
Parp14 |
C |
T |
16: 35,680,811 (GRCm39) |
C274Y |
probably benign |
Het |
Pced1b |
T |
A |
15: 97,282,679 (GRCm39) |
H239Q |
possibly damaging |
Het |
Pgap1 |
T |
C |
1: 54,521,048 (GRCm39) |
I865V |
probably benign |
Het |
Ppp6r3 |
T |
A |
19: 3,543,936 (GRCm39) |
S360C |
probably damaging |
Het |
Prb1a |
A |
G |
6: 132,184,467 (GRCm39) |
S389P |
unknown |
Het |
Prr16 |
T |
G |
18: 51,436,227 (GRCm39) |
S235R |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,646,527 (GRCm39) |
N183S |
probably benign |
Het |
Rcn1 |
A |
G |
2: 105,219,320 (GRCm39) |
|
probably null |
Het |
Rimkla |
C |
A |
4: 119,325,288 (GRCm39) |
A374S |
probably benign |
Het |
Skint8 |
A |
T |
4: 111,785,935 (GRCm39) |
D127V |
probably damaging |
Het |
Slc12a6 |
A |
G |
2: 112,182,796 (GRCm39) |
K724E |
probably damaging |
Het |
Slc13a3 |
T |
C |
2: 165,248,667 (GRCm39) |
N537S |
unknown |
Het |
Slc26a5 |
T |
C |
5: 22,025,348 (GRCm39) |
D457G |
possibly damaging |
Het |
Slx4ip |
T |
C |
2: 136,842,138 (GRCm39) |
V21A |
possibly damaging |
Het |
Stt3b |
A |
G |
9: 115,087,626 (GRCm39) |
Y291H |
probably damaging |
Het |
Syn3 |
G |
A |
10: 86,302,916 (GRCm39) |
P80S |
probably damaging |
Het |
Tasor2 |
G |
A |
13: 3,626,540 (GRCm39) |
Q455* |
probably null |
Het |
Tiam1 |
A |
T |
16: 89,655,485 (GRCm39) |
|
probably null |
Het |
Tjp1 |
T |
C |
7: 64,993,399 (GRCm39) |
D58G |
probably damaging |
Het |
Tmprss15 |
T |
A |
16: 78,800,266 (GRCm39) |
I621F |
probably damaging |
Het |
Tns1 |
C |
T |
1: 73,992,629 (GRCm39) |
S683N |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,773,436 (GRCm39) |
L2322P |
probably damaging |
Het |
Ugdh |
G |
T |
5: 65,574,402 (GRCm39) |
H409N |
probably damaging |
Het |
Vmn2r81 |
T |
A |
10: 79,129,560 (GRCm39) |
M817K |
probably benign |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Zbtb34 |
A |
G |
2: 33,302,145 (GRCm39) |
V132A |
probably damaging |
Het |
Zfp119b |
A |
G |
17: 56,246,992 (GRCm39) |
C33R |
possibly 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 |
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'- AACAGGATCTTTCTCCACTGC -3'
(R):5'- TCAGCCAGCCCTATTAGAGG -3'
Sequencing Primer
(F):5'- GATCTTTCTCCACTGCCAGCC -3'
(R):5'- TAGAGGAAGCTTTCCTGG -3'
|
Posted On |
2018-06-06 |