Incidental Mutation 'R4756:Acss2'
| ID |
357987 |
| 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 |
041972-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R4756 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155359963-155404663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155403063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 627
(F627L)
|
| 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: F614L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: F614L
| 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: F614L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: F614L
| 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: F627L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: F627L
| 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 |
noncoding transcript
Transcript: ENSMUST00000140860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148685
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175993
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
T |
9: 53,336,830 (GRCm39) |
M45L |
probably benign |
Het |
| Akap8 |
A |
G |
17: 32,535,184 (GRCm39) |
S277P |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,051,418 (GRCm39) |
M1395K |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,612,893 (GRCm39) |
D1468G |
probably benign |
Het |
| Apoe |
A |
G |
7: 19,430,846 (GRCm39) |
V121A |
probably benign |
Het |
| Aqp9 |
A |
T |
9: 71,070,331 (GRCm39) |
L12H |
probably damaging |
Het |
| Atp2b4 |
G |
A |
1: 133,639,529 (GRCm39) |
A1115V |
probably benign |
Het |
| Atp2b4 |
G |
A |
1: 133,667,134 (GRCm39) |
P139L |
probably benign |
Het |
| B430218F22Rik |
T |
C |
13: 118,523,980 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,154,854 (GRCm39) |
L122H |
probably damaging |
Het |
| Brsk1 |
A |
G |
7: 4,711,866 (GRCm39) |
E572G |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,811,394 (GRCm39) |
I414T |
probably benign |
Het |
| C8b |
T |
A |
4: 104,644,083 (GRCm39) |
M250K |
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,044,393 (GRCm39) |
E7V |
probably benign |
Het |
| Clcc1 |
A |
G |
3: 108,580,236 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
G |
T |
1: 82,694,018 (GRCm39) |
|
probably null |
Het |
| Cox5b |
T |
A |
1: 36,732,310 (GRCm39) |
W104R |
probably damaging |
Het |
| Cyp2c55 |
A |
C |
19: 39,019,815 (GRCm39) |
H251P |
probably damaging |
Het |
| Cyp2c67 |
G |
A |
19: 39,632,188 (GRCm39) |
T60I |
probably benign |
Het |
| Defb42 |
T |
A |
14: 63,285,824 (GRCm39) |
V68E |
probably benign |
Het |
| Ercc4 |
T |
A |
16: 12,941,287 (GRCm39) |
I225N |
probably damaging |
Het |
| Fam120b |
G |
T |
17: 15,622,658 (GRCm39) |
C212F |
probably damaging |
Het |
| Fgf10 |
T |
C |
13: 118,918,045 (GRCm39) |
V111A |
probably benign |
Het |
| Fn1 |
G |
T |
1: 71,629,967 (GRCm39) |
T2186K |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,929,518 (GRCm39) |
V3974A |
probably benign |
Het |
| Galnt4 |
T |
C |
10: 98,944,362 (GRCm39) |
V29A |
probably benign |
Het |
| Gpr26 |
T |
C |
7: 131,569,230 (GRCm39) |
Y192H |
probably damaging |
Het |
| Heatr9 |
A |
T |
11: 83,407,475 (GRCm39) |
L236Q |
probably damaging |
Het |
| Hivep3 |
C |
A |
4: 119,955,020 (GRCm39) |
P1112H |
probably damaging |
Het |
| Hnf4g |
A |
G |
3: 3,708,069 (GRCm39) |
Y106C |
possibly damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,185,783 (GRCm39) |
Y69* |
probably null |
Het |
| Itgb1 |
G |
A |
8: 129,443,703 (GRCm39) |
A320T |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,733 (GRCm39) |
I438T |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,397,545 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
G |
A |
14: 96,389,402 (GRCm39) |
T584I |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,532,199 (GRCm39) |
D91G |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,844,427 (GRCm39) |
I190M |
probably damaging |
Het |
| Meis2 |
G |
A |
2: 115,830,686 (GRCm39) |
R276C |
probably damaging |
Het |
| Mob4 |
C |
T |
1: 55,191,855 (GRCm39) |
R190W |
probably damaging |
Het |
| Mrgpra2a |
A |
G |
7: 47,077,114 (GRCm39) |
I48T |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,960,826 (GRCm39) |
V481A |
probably benign |
Het |
| Mttp |
A |
T |
3: 137,821,832 (GRCm39) |
V245E |
possibly damaging |
Het |
| Nbn |
T |
A |
4: 15,981,470 (GRCm39) |
S521T |
probably benign |
Het |
| Neb |
G |
T |
2: 52,083,243 (GRCm39) |
T5654N |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,256,866 (GRCm39) |
K161N |
probably damaging |
Het |
| Nod2 |
T |
G |
8: 89,390,902 (GRCm39) |
F388C |
possibly damaging |
Het |
| Or3a1 |
G |
T |
11: 74,225,402 (GRCm39) |
F218L |
probably benign |
Het |
| Or4a75 |
G |
T |
2: 89,447,814 (GRCm39) |
H241N |
possibly damaging |
Het |
| Or4f58 |
A |
G |
2: 111,851,332 (GRCm39) |
F289S |
possibly damaging |
Het |
| Or52e2 |
A |
T |
7: 102,804,332 (GRCm39) |
N207K |
probably benign |
Het |
| Or7a38 |
T |
A |
10: 78,753,361 (GRCm39) |
I229N |
probably damaging |
Het |
| Or7g25 |
G |
A |
9: 19,160,153 (GRCm39) |
L181F |
possibly damaging |
Het |
| P2ry1 |
A |
G |
3: 60,911,898 (GRCm39) |
S346G |
probably benign |
Het |
| Polr1f |
T |
A |
12: 33,487,679 (GRCm39) |
|
probably null |
Het |
| Prkcd |
A |
G |
14: 30,321,623 (GRCm39) |
F524L |
probably benign |
Het |
| Qrfprl |
T |
C |
6: 65,429,898 (GRCm39) |
I198T |
probably benign |
Het |
| Ramp3 |
A |
T |
11: 6,624,843 (GRCm39) |
M46L |
probably benign |
Het |
| Rint1 |
T |
C |
5: 24,014,791 (GRCm39) |
Y278H |
probably damaging |
Het |
| Skint11 |
C |
T |
4: 114,051,874 (GRCm39) |
T74I |
probably benign |
Het |
| Slc10a7 |
T |
C |
8: 79,433,579 (GRCm39) |
|
probably null |
Het |
| Slc45a2 |
T |
A |
15: 11,028,016 (GRCm39) |
Y528* |
probably null |
Het |
| Slit1 |
A |
G |
19: 41,637,452 (GRCm39) |
F329L |
probably damaging |
Het |
| Sltm |
A |
T |
9: 70,498,892 (GRCm39) |
M989L |
possibly damaging |
Het |
| Smad9 |
A |
T |
3: 54,701,874 (GRCm39) |
T372S |
possibly damaging |
Het |
| Snrpc |
T |
A |
17: 28,061,306 (GRCm39) |
Y38* |
probably null |
Het |
| Spag17 |
A |
G |
3: 100,010,701 (GRCm39) |
K2065R |
possibly damaging |
Het |
| Stxbp4 |
T |
A |
11: 90,498,197 (GRCm39) |
K87N |
probably damaging |
Het |
| Tbc1d23 |
AT |
ATT |
16: 57,019,258 (GRCm39) |
|
probably null |
Het |
| Tgfb1i1 |
A |
T |
7: 127,848,571 (GRCm39) |
M96L |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,885,580 (GRCm39) |
I1841F |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,211,771 (GRCm39) |
H63Q |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,632,580 (GRCm39) |
N2592S |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,193,381 (GRCm39) |
P1305L |
probably benign |
Het |
| Xrn1 |
G |
A |
9: 95,921,862 (GRCm39) |
R1425K |
probably benign |
Het |
| Zfp418 |
G |
A |
7: 7,185,762 (GRCm39) |
R575Q |
possibly damaging |
Het |
| Zfp608 |
T |
A |
18: 55,027,544 (GRCm39) |
Q1424H |
probably damaging |
Het |
| Zfp839 |
C |
A |
12: 110,821,635 (GRCm39) |
L150I |
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 |
|
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 |
|
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'- AGAGCCTTCCCATTTCCAGAT -3'
(R):5'- TGGGAAGCTAGTGGAGACTT -3'
Sequencing Primer
(F):5'- ATCACATCAGCCCTGTGGGTAC -3'
(R):5'- CTTGGGAAGTAAAGCAGACCCC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation