Incidental Mutation 'R0257:Acsbg3'
ID |
34812 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acsbg3
|
Ensembl Gene |
ENSMUSG00000024209 |
Gene Name |
acyl-CoA synthetase bubblegum family member 3 |
Synonyms |
1700061G19Rik |
MMRRC Submission |
038488-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R0257 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57182477-57195904 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 57192169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 577
(Y577*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025048]
|
AlphaFold |
Q08EE8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025048
AA Change: Y577*
|
SMART Domains |
Protein: ENSMUSP00000025048 Gene: ENSMUSG00000024209 AA Change: Y577*
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
80 |
554 |
6.5e-68 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.2%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
A |
11: 84,401,107 (GRCm39) |
E171D |
probably benign |
Het |
Adgre5 |
T |
A |
8: 84,458,624 (GRCm39) |
H134L |
possibly damaging |
Het |
Ahsg |
A |
T |
16: 22,717,790 (GRCm39) |
M256L |
probably benign |
Het |
Alk |
A |
T |
17: 72,910,490 (GRCm39) |
L72Q |
probably damaging |
Het |
Ano2 |
C |
A |
6: 125,857,676 (GRCm39) |
A505E |
probably benign |
Het |
Bcas3 |
A |
G |
11: 85,712,865 (GRCm39) |
K908E |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
Car2 |
C |
G |
3: 14,965,037 (GRCm39) |
H224D |
probably benign |
Het |
Cfh |
T |
C |
1: 140,071,773 (GRCm39) |
D287G |
probably benign |
Het |
Disp3 |
G |
T |
4: 148,335,211 (GRCm39) |
N944K |
possibly damaging |
Het |
Dlg1 |
A |
G |
16: 31,661,671 (GRCm39) |
|
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,708,123 (GRCm39) |
E1281G |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,088,870 (GRCm39) |
|
probably benign |
Het |
Dtx3 |
T |
C |
10: 127,028,761 (GRCm39) |
D159G |
probably benign |
Het |
Ets2 |
T |
A |
16: 95,513,245 (GRCm39) |
C140* |
probably null |
Het |
Fbf1 |
T |
C |
11: 116,045,917 (GRCm39) |
I226V |
probably benign |
Het |
Fgd6 |
T |
A |
10: 93,879,777 (GRCm39) |
H210Q |
probably benign |
Het |
Fktn |
A |
G |
4: 53,734,898 (GRCm39) |
T179A |
probably benign |
Het |
Galnt10 |
T |
C |
11: 57,671,904 (GRCm39) |
M398T |
probably damaging |
Het |
Grk5 |
G |
T |
19: 61,065,068 (GRCm39) |
|
probably benign |
Het |
Gse1 |
A |
G |
8: 121,299,073 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,259,176 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,861,052 (GRCm39) |
|
probably null |
Het |
Lama4 |
T |
C |
10: 38,970,880 (GRCm39) |
|
probably benign |
Het |
Luzp2 |
A |
G |
7: 54,899,194 (GRCm39) |
T271A |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,693,534 (GRCm39) |
V1053D |
probably damaging |
Het |
Mrm1 |
A |
C |
11: 84,705,649 (GRCm39) |
|
probably benign |
Het |
Msh5 |
G |
C |
17: 35,251,840 (GRCm39) |
R407G |
probably damaging |
Het |
Myo1c |
A |
T |
11: 75,556,342 (GRCm39) |
|
probably null |
Het |
Nek5 |
T |
C |
8: 22,613,688 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
A |
G |
19: 6,540,728 (GRCm39) |
I894V |
possibly damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Pde4a |
C |
T |
9: 21,103,717 (GRCm39) |
P175L |
probably damaging |
Het |
Pip5k1c |
C |
A |
10: 81,150,930 (GRCm39) |
A628E |
possibly damaging |
Het |
Piwil2 |
C |
T |
14: 70,660,080 (GRCm39) |
S139N |
probably benign |
Het |
Prob1 |
T |
C |
18: 35,786,092 (GRCm39) |
K721E |
possibly damaging |
Het |
Rps6ka2 |
C |
A |
17: 7,495,382 (GRCm39) |
S57Y |
probably damaging |
Het |
Rxfp1 |
C |
T |
3: 79,589,842 (GRCm39) |
V100M |
possibly damaging |
Het |
Serpinb9e |
A |
T |
13: 33,441,664 (GRCm39) |
M199L |
probably benign |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc4a8 |
G |
A |
15: 100,682,761 (GRCm39) |
|
probably benign |
Het |
Sned1 |
A |
T |
1: 93,192,819 (GRCm39) |
S369C |
possibly damaging |
Het |
St18 |
T |
A |
1: 6,890,186 (GRCm39) |
F539L |
probably benign |
Het |
Stam2 |
C |
T |
2: 52,584,794 (GRCm39) |
G500D |
possibly damaging |
Het |
Stx16 |
G |
A |
2: 173,938,754 (GRCm39) |
V307M |
probably benign |
Het |
Svep1 |
G |
A |
4: 58,179,610 (GRCm39) |
S211L |
possibly damaging |
Het |
Tcf12 |
C |
T |
9: 71,765,904 (GRCm39) |
S512N |
probably benign |
Het |
Tiam2 |
T |
C |
17: 3,501,088 (GRCm39) |
V909A |
possibly damaging |
Het |
Tmem64 |
C |
T |
4: 15,266,343 (GRCm39) |
A131V |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,778,556 (GRCm39) |
N1176K |
possibly damaging |
Het |
Trrap |
C |
T |
5: 144,741,045 (GRCm39) |
S1264L |
probably benign |
Het |
Ttn |
T |
A |
2: 76,640,775 (GRCm39) |
T13658S |
possibly damaging |
Het |
Vmn2r104 |
G |
A |
17: 20,249,889 (GRCm39) |
T794I |
probably damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,904,982 (GRCm39) |
R286* |
probably null |
Het |
Vps53 |
A |
T |
11: 76,068,211 (GRCm39) |
|
probably benign |
Het |
Wdr18 |
A |
G |
10: 79,796,953 (GRCm39) |
|
probably benign |
Het |
Wdr31 |
A |
G |
4: 62,378,755 (GRCm39) |
|
probably null |
Het |
Zfp458 |
T |
A |
13: 67,407,706 (GRCm39) |
K47* |
probably null |
Het |
Zfp983 |
A |
G |
17: 21,880,356 (GRCm39) |
T95A |
probably benign |
Het |
|
Other mutations in Acsbg3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01287:Acsbg3
|
APN |
17 |
57,189,203 (GRCm39) |
nonsense |
probably null |
|
IGL01833:Acsbg3
|
APN |
17 |
57,188,062 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02420:Acsbg3
|
APN |
17 |
57,187,494 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02969:Acsbg3
|
APN |
17 |
57,190,751 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03054:Acsbg3
|
UTSW |
17 |
57,193,528 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0197:Acsbg3
|
UTSW |
17 |
57,190,835 (GRCm39) |
missense |
probably benign |
0.01 |
R0279:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
R0280:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
R0281:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
R0282:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
R0329:Acsbg3
|
UTSW |
17 |
57,190,631 (GRCm39) |
missense |
probably benign |
0.02 |
R0330:Acsbg3
|
UTSW |
17 |
57,190,631 (GRCm39) |
missense |
probably benign |
0.02 |
R0349:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
R0518:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
R0519:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
R0521:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
R0604:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
R0883:Acsbg3
|
UTSW |
17 |
57,190,835 (GRCm39) |
missense |
probably benign |
0.01 |
R1561:Acsbg3
|
UTSW |
17 |
57,184,431 (GRCm39) |
missense |
probably benign |
|
R1779:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
R2008:Acsbg3
|
UTSW |
17 |
57,193,478 (GRCm39) |
missense |
probably benign |
0.04 |
R2102:Acsbg3
|
UTSW |
17 |
57,191,949 (GRCm39) |
nonsense |
probably null |
|
R2247:Acsbg3
|
UTSW |
17 |
57,184,435 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2484:Acsbg3
|
UTSW |
17 |
57,189,641 (GRCm39) |
missense |
probably benign |
0.00 |
R2917:Acsbg3
|
UTSW |
17 |
57,192,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R3149:Acsbg3
|
UTSW |
17 |
57,183,348 (GRCm39) |
missense |
probably benign |
|
R3773:Acsbg3
|
UTSW |
17 |
57,183,262 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
R4829:Acsbg3
|
UTSW |
17 |
57,190,500 (GRCm39) |
splice site |
probably null |
|
R4860:Acsbg3
|
UTSW |
17 |
57,195,655 (GRCm39) |
missense |
probably benign |
0.09 |
R4860:Acsbg3
|
UTSW |
17 |
57,195,655 (GRCm39) |
missense |
probably benign |
0.09 |
R4887:Acsbg3
|
UTSW |
17 |
57,183,324 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5043:Acsbg3
|
UTSW |
17 |
57,192,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R5112:Acsbg3
|
UTSW |
17 |
57,184,465 (GRCm39) |
missense |
probably benign |
0.03 |
R5161:Acsbg3
|
UTSW |
17 |
57,189,888 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5214:Acsbg3
|
UTSW |
17 |
57,193,493 (GRCm39) |
missense |
probably benign |
|
R5287:Acsbg3
|
UTSW |
17 |
57,183,221 (GRCm39) |
unclassified |
probably benign |
|
R5403:Acsbg3
|
UTSW |
17 |
57,183,221 (GRCm39) |
unclassified |
probably benign |
|
R5779:Acsbg3
|
UTSW |
17 |
57,188,061 (GRCm39) |
missense |
probably benign |
0.02 |
R5997:Acsbg3
|
UTSW |
17 |
57,183,373 (GRCm39) |
missense |
probably benign |
0.02 |
R6198:Acsbg3
|
UTSW |
17 |
57,189,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R6259:Acsbg3
|
UTSW |
17 |
57,184,513 (GRCm39) |
missense |
probably benign |
0.04 |
R6357:Acsbg3
|
UTSW |
17 |
57,184,591 (GRCm39) |
critical splice donor site |
probably null |
|
R6754:Acsbg3
|
UTSW |
17 |
57,190,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R6842:Acsbg3
|
UTSW |
17 |
57,184,432 (GRCm39) |
missense |
probably benign |
0.00 |
R7042:Acsbg3
|
UTSW |
17 |
57,192,098 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7181:Acsbg3
|
UTSW |
17 |
57,188,037 (GRCm39) |
missense |
probably benign |
0.03 |
R7445:Acsbg3
|
UTSW |
17 |
57,189,973 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7511:Acsbg3
|
UTSW |
17 |
57,189,954 (GRCm39) |
missense |
probably damaging |
0.98 |
R8122:Acsbg3
|
UTSW |
17 |
57,193,670 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8553:Acsbg3
|
UTSW |
17 |
57,188,021 (GRCm39) |
missense |
probably benign |
0.02 |
R8919:Acsbg3
|
UTSW |
17 |
57,189,218 (GRCm39) |
missense |
probably benign |
0.00 |
R9460:Acsbg3
|
UTSW |
17 |
57,183,316 (GRCm39) |
missense |
probably damaging |
0.99 |
R9469:Acsbg3
|
UTSW |
17 |
57,183,283 (GRCm39) |
missense |
probably benign |
0.00 |
R9766:Acsbg3
|
UTSW |
17 |
57,189,177 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Acsbg3
|
UTSW |
17 |
57,190,463 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCTCCACTTCCTAGAGAAGGGGAT -3'
(R):5'- GCCTGCCTTTCCAAAGAGGCTTAAT -3'
Sequencing Primer
(F):5'- CACTTCCTAGAGAAGGGGATGTTTG -3'
(R):5'- ctcaccagtctcctcccc -3'
|
Posted On |
2013-05-09 |