Incidental Mutation 'R7074:Acss2'
ID |
549084 |
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 |
045242-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.226)
|
Stock # |
R7074 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155363961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 80
(L80P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000103142]
[ENSMUST00000133654]
[ENSMUST00000147601]
|
AlphaFold |
Q9QXG4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029135
AA Change: L80P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029135 Gene: ENSMUSG00000027605 AA Change: L80P
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: L80P
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000068776 Gene: ENSMUSG00000027605 AA Change: L80P
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 |
possibly damaging
Transcript: ENSMUST00000103142
AA Change: L80P
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099431 Gene: ENSMUSG00000027605 AA Change: L80P
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 |
possibly damaging
Transcript: ENSMUST00000133654
AA Change: L80P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147601
|
SMART Domains |
Protein: ENSMUSP00000120560 Gene: ENSMUSG00000027603
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
transmembrane domain
|
109 |
131 |
N/A |
INTRINSIC |
Pfam:G_glu_transpept
|
154 |
202 |
6.6e-18 |
PFAM |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,340,433 (GRCm39) |
I53L |
probably benign |
Het |
Adam3 |
A |
T |
8: 25,184,363 (GRCm39) |
F546I |
probably benign |
Het |
Adtrp |
A |
T |
13: 41,981,617 (GRCm39) |
|
probably null |
Het |
Anapc1 |
G |
T |
2: 128,520,194 (GRCm39) |
P208T |
probably damaging |
Het |
Ankrd33 |
A |
G |
15: 101,017,430 (GRCm39) |
K281R |
probably benign |
Het |
Bcl11b |
A |
G |
12: 107,955,766 (GRCm39) |
S128P |
probably benign |
Het |
Ccdc57 |
T |
C |
11: 120,794,200 (GRCm39) |
K265E |
possibly damaging |
Het |
Cep72 |
A |
G |
13: 74,199,699 (GRCm39) |
C244R |
probably benign |
Het |
Cope |
A |
G |
8: 70,765,537 (GRCm39) |
Q303R |
probably benign |
Het |
Cpd |
T |
A |
11: 76,704,420 (GRCm39) |
N398I |
probably damaging |
Het |
Cplx1 |
C |
T |
5: 108,696,393 (GRCm39) |
|
probably null |
Het |
Dixdc1 |
T |
A |
9: 50,601,214 (GRCm39) |
E344D |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,833,445 (GRCm39) |
F1951I |
unknown |
Het |
Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
Faap24 |
A |
T |
7: 35,094,527 (GRCm39) |
I91K |
possibly damaging |
Het |
Fubp3 |
T |
C |
2: 31,485,306 (GRCm39) |
S107P |
probably damaging |
Het |
Gas2l2 |
T |
A |
11: 83,313,893 (GRCm39) |
Q473L |
probably benign |
Het |
Ghr |
A |
T |
15: 3,362,873 (GRCm39) |
Y200N |
probably damaging |
Het |
Gm4950 |
G |
A |
18: 51,998,521 (GRCm39) |
Q145* |
probably null |
Het |
Gm826 |
C |
T |
2: 160,153,810 (GRCm39) |
V78I |
unknown |
Het |
Gnas |
G |
A |
2: 174,126,842 (GRCm39) |
E126K |
probably damaging |
Het |
Grip2 |
A |
T |
6: 91,761,689 (GRCm39) |
V235E |
probably benign |
Het |
Hmgcl |
A |
G |
4: 135,681,178 (GRCm39) |
H88R |
probably benign |
Het |
Htr7 |
A |
G |
19: 36,034,283 (GRCm39) |
V124A |
probably damaging |
Het |
Igf2r |
T |
A |
17: 12,933,003 (GRCm39) |
I840F |
possibly damaging |
Het |
Ints8 |
T |
C |
4: 11,204,574 (GRCm39) |
I961V |
possibly damaging |
Het |
Jmy |
A |
T |
13: 93,590,439 (GRCm39) |
S555T |
probably benign |
Het |
Klk1b27 |
G |
A |
7: 43,705,977 (GRCm39) |
G227S |
probably damaging |
Het |
Lao1 |
A |
C |
4: 118,825,382 (GRCm39) |
T401P |
probably damaging |
Het |
Lrwd1 |
C |
T |
5: 136,152,511 (GRCm39) |
V547I |
probably benign |
Het |
Mttp |
C |
A |
3: 137,813,034 (GRCm39) |
R532L |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,566,946 (GRCm39) |
T1858A |
unknown |
Het |
Myo18a |
T |
A |
11: 77,733,387 (GRCm39) |
D1409E |
probably benign |
Het |
Ncor2 |
T |
A |
5: 125,126,430 (GRCm39) |
R554* |
probably null |
Het |
Or14j6 |
T |
A |
17: 38,214,718 (GRCm39) |
Y94N |
possibly damaging |
Het |
Or1e1b-ps1 |
A |
T |
11: 73,845,975 (GRCm39) |
H153L |
probably benign |
Het |
Or2b11 |
T |
C |
11: 59,461,835 (GRCm39) |
T244A |
probably damaging |
Het |
Or2l13b |
T |
A |
16: 19,348,855 (GRCm39) |
I272F |
possibly damaging |
Het |
Or52b1 |
A |
G |
7: 104,978,475 (GRCm39) |
M308T |
probably benign |
Het |
Prkar2b |
A |
G |
12: 32,022,147 (GRCm39) |
Y213H |
probably damaging |
Het |
Prkd3 |
T |
A |
17: 79,282,236 (GRCm39) |
K306* |
probably null |
Het |
Psd2 |
A |
G |
18: 36,143,737 (GRCm39) |
E681G |
probably benign |
Het |
Sel1l2 |
T |
A |
2: 140,105,362 (GRCm39) |
N276I |
probably damaging |
Het |
Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
Smyd1 |
A |
G |
6: 71,214,359 (GRCm39) |
V214A |
probably damaging |
Het |
Spag5 |
T |
C |
11: 78,195,868 (GRCm39) |
|
probably null |
Het |
Trem3 |
C |
T |
17: 48,556,909 (GRCm39) |
R127W |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,748,425 (GRCm39) |
T4208I |
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 89,004,839 (GRCm39) |
F260S |
probably damaging |
Het |
Vmn1r51 |
A |
T |
6: 90,106,654 (GRCm39) |
D190V |
probably benign |
Het |
Zc3h14 |
A |
G |
12: 98,724,859 (GRCm39) |
I174V |
possibly damaging |
Het |
Zfp423 |
G |
A |
8: 88,509,060 (GRCm39) |
T428I |
probably benign |
Het |
Zfp608 |
T |
A |
18: 55,030,454 (GRCm39) |
N1162I |
possibly damaging |
Het |
Zmym5 |
T |
C |
14: 57,042,255 (GRCm39) |
M8V |
probably benign |
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 |
|
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'- CATTTGGGAATAGCCTGTAGGTGC -3'
(R):5'- GAGATTGTTCTCTGCCATAGACT -3'
Sequencing Primer
(F):5'- CTAGGGTCGACAAATAATGAGTCC -3'
(R):5'- GCACGTTGTAGCAGATGT -3'
|
Posted On |
2019-05-15 |