Incidental Mutation 'R4170:Acsbg2'
ID |
320760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acsbg2
|
Ensembl Gene |
ENSMUSG00000024207 |
Gene Name |
acyl-CoA synthetase bubblegum family member 2 |
Synonyms |
Bgr |
MMRRC Submission |
040863-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4170 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
57150103-57181447 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 57160846 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 266
(T266I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043062]
|
AlphaFold |
Q2XU92 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043062
AA Change: T266I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000042352 Gene: ENSMUSG00000024207 AA Change: T266I
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
53 |
519 |
7e-93 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700047A11Rik |
T |
A |
8: 26,585,815 (GRCm39) |
T63S |
probably benign |
Het |
Acap3 |
T |
A |
4: 155,984,458 (GRCm39) |
S189T |
possibly damaging |
Het |
Cacna1s |
A |
G |
1: 136,035,933 (GRCm39) |
D1144G |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,223,143 (GRCm39) |
D365G |
probably damaging |
Het |
Dock7 |
T |
A |
4: 98,854,638 (GRCm39) |
D1542V |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,717,831 (GRCm39) |
V337D |
probably damaging |
Het |
Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
Ercc6 |
T |
C |
14: 32,288,754 (GRCm39) |
L867P |
probably damaging |
Het |
Gdf6 |
A |
G |
4: 9,859,650 (GRCm39) |
D244G |
probably benign |
Het |
Get1 |
G |
A |
16: 95,954,176 (GRCm39) |
A92T |
probably benign |
Het |
Gzmn |
T |
C |
14: 56,404,261 (GRCm39) |
D192G |
possibly damaging |
Het |
Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
Lysmd3 |
C |
T |
13: 81,817,529 (GRCm39) |
Q169* |
probably null |
Het |
Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
Mmp23 |
C |
T |
4: 155,735,767 (GRCm39) |
R268Q |
probably damaging |
Het |
Or1j17 |
C |
A |
2: 36,578,734 (GRCm39) |
T240N |
probably damaging |
Het |
Or5p58 |
T |
A |
7: 107,694,280 (GRCm39) |
I166L |
probably benign |
Het |
Prmt3 |
G |
T |
7: 49,476,524 (GRCm39) |
A378S |
probably benign |
Het |
Ptf1a |
C |
T |
2: 19,451,819 (GRCm39) |
L273F |
possibly damaging |
Het |
Ptpru |
A |
T |
4: 131,503,659 (GRCm39) |
Y1124N |
probably damaging |
Het |
Rtkn |
T |
G |
6: 83,119,376 (GRCm39) |
M1R |
probably null |
Het |
Rttn |
T |
A |
18: 88,993,847 (GRCm39) |
F175I |
probably damaging |
Het |
Slc5a7 |
T |
C |
17: 54,583,886 (GRCm39) |
D468G |
probably benign |
Het |
Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
Smarcd1 |
T |
C |
15: 99,605,812 (GRCm39) |
L320P |
probably damaging |
Het |
Sox2 |
A |
T |
3: 34,704,703 (GRCm39) |
M47L |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,920,037 (GRCm39) |
M2258T |
possibly damaging |
Het |
Tnrc6b |
T |
A |
15: 80,800,988 (GRCm39) |
D1431E |
probably benign |
Het |
Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
Tut4 |
A |
G |
4: 108,405,256 (GRCm39) |
Y1293C |
probably damaging |
Het |
Zbtb46 |
T |
C |
2: 181,066,148 (GRCm39) |
M1V |
probably null |
Het |
Zfp7 |
T |
C |
15: 76,775,818 (GRCm39) |
V620A |
probably benign |
Het |
Zfp804a |
T |
A |
2: 82,083,832 (GRCm39) |
F95I |
probably damaging |
Het |
|
Other mutations in Acsbg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01474:Acsbg2
|
APN |
17 |
57,168,621 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02119:Acsbg2
|
APN |
17 |
57,175,459 (GRCm39) |
splice site |
probably benign |
|
IGL02418:Acsbg2
|
APN |
17 |
57,156,730 (GRCm39) |
missense |
probably benign |
|
R0023:Acsbg2
|
UTSW |
17 |
57,154,710 (GRCm39) |
missense |
probably damaging |
0.98 |
R0023:Acsbg2
|
UTSW |
17 |
57,154,710 (GRCm39) |
missense |
probably damaging |
0.98 |
R0149:Acsbg2
|
UTSW |
17 |
57,160,924 (GRCm39) |
splice site |
probably benign |
|
R1542:Acsbg2
|
UTSW |
17 |
57,156,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R2014:Acsbg2
|
UTSW |
17 |
57,160,855 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4465:Acsbg2
|
UTSW |
17 |
57,168,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R4867:Acsbg2
|
UTSW |
17 |
57,169,914 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5169:Acsbg2
|
UTSW |
17 |
57,156,913 (GRCm39) |
missense |
probably benign |
0.07 |
R5524:Acsbg2
|
UTSW |
17 |
57,157,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R6521:Acsbg2
|
UTSW |
17 |
57,168,565 (GRCm39) |
missense |
probably benign |
0.00 |
R6531:Acsbg2
|
UTSW |
17 |
57,153,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R7126:Acsbg2
|
UTSW |
17 |
57,153,633 (GRCm39) |
missense |
probably damaging |
0.99 |
R7167:Acsbg2
|
UTSW |
17 |
57,164,000 (GRCm39) |
missense |
probably benign |
0.44 |
R7423:Acsbg2
|
UTSW |
17 |
57,175,257 (GRCm39) |
missense |
probably benign |
|
R7970:Acsbg2
|
UTSW |
17 |
57,156,728 (GRCm39) |
missense |
probably benign |
0.43 |
R8023:Acsbg2
|
UTSW |
17 |
57,152,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R8104:Acsbg2
|
UTSW |
17 |
57,152,443 (GRCm39) |
missense |
probably benign |
0.27 |
R8887:Acsbg2
|
UTSW |
17 |
57,175,285 (GRCm39) |
missense |
probably benign |
0.25 |
Z1177:Acsbg2
|
UTSW |
17 |
57,160,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGACAGACGATGTTTACCC -3'
(R):5'- GCCTCCTCATATGCACACATG -3'
Sequencing Primer
(F):5'- GACAGACGATGTTTACCCCCTCC -3'
(R):5'- AAGTGTGCCTGCTCTCTTATAGAAC -3'
|
Posted On |
2015-06-12 |