Incidental Mutation 'R4465:Acsbg2'
| ID |
330323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsbg2
|
| Ensembl Gene |
ENSMUSG00000024207 |
| Gene Name |
acyl-CoA synthetase bubblegum family member 2 |
| Synonyms |
Bgr |
| MMRRC Submission |
041580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4465 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
57150103-57181447 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57168580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 180
(Y180H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043062]
|
| AlphaFold |
Q2XU92 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043062
AA Change: Y180H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042352
Gene: ENSMUSG00000024207
AA Change: Y180H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
53 |
519 |
7e-93 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
G |
T |
1: 25,133,447 (GRCm39) |
T1213K |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,802,388 (GRCm39) |
T510A |
probably benign |
Het |
| Clasp1 |
C |
A |
1: 118,488,808 (GRCm39) |
T857N |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,580,192 (GRCm39) |
V1562F |
possibly damaging |
Het |
| Cyp4f40 |
T |
A |
17: 32,890,186 (GRCm39) |
D285E |
probably benign |
Het |
| Dis3 |
G |
A |
14: 99,321,550 (GRCm39) |
S599L |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,186 (GRCm39) |
T3041A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,981,393 (GRCm39) |
N511D |
probably benign |
Het |
| F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
| Gm11541 |
A |
T |
11: 94,595,048 (GRCm39) |
C7S |
unknown |
Het |
| Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
| Lao1 |
C |
A |
4: 118,822,504 (GRCm39) |
S141R |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,023 (GRCm39) |
K1316E |
probably damaging |
Het |
| Map3k6 |
A |
G |
4: 132,973,644 (GRCm39) |
Y445C |
possibly damaging |
Het |
| Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
| Ndnf |
T |
A |
6: 65,681,180 (GRCm39) |
D486E |
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,092,852 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or8h7 |
A |
T |
2: 86,721,494 (GRCm39) |
N8K |
probably benign |
Het |
| Or8k37 |
A |
T |
2: 86,469,478 (GRCm39) |
N191K |
probably benign |
Het |
| Rab19 |
T |
C |
6: 39,365,060 (GRCm39) |
S107P |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,140,088 (GRCm39) |
L439* |
probably null |
Het |
| Slc5a1 |
A |
G |
5: 33,303,860 (GRCm39) |
E225G |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
| Snx25 |
A |
G |
8: 46,521,266 (GRCm39) |
S373P |
possibly damaging |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Homo |
| Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Zdhhc22 |
G |
A |
12: 87,034,997 (GRCm39) |
L152F |
probably benign |
Het |
| Zfpm2 |
T |
G |
15: 40,959,557 (GRCm39) |
M80R |
probably benign |
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 |
|
R4170:Acsbg2
|
UTSW |
17 |
57,160,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGCAGACCCTACCTACATGC -3'
(R):5'- TTGACTCGAGGTTGCCAAC -3'
Sequencing Primer
(F):5'- TACCTACATGCCCTGGCG -3'
(R):5'- ACTGAGTCAGACTTGCAGGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation