Incidental Mutation 'R0577:Bag3'
| ID |
56264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bag3
|
| Ensembl Gene |
ENSMUSG00000030847 |
| Gene Name |
BCL2-associated athanogene 3 |
| Synonyms |
Bcl-2-interacting death suppressor, Bis |
| MMRRC Submission |
038767-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0577 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
128125340-128148705 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128125611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 10
(M10T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033136]
|
| AlphaFold |
Q9JLV1 |
| PDB Structure |
Solution structure of the Murine BAG domain of Bcl2-associated athanogene 3 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033136
AA Change: M10T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000033136
Gene: ENSMUSG00000030847
AA Change: M10T
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
23 |
56 |
1.49e-11 |
SMART |
|
internal_repeat_1
|
90 |
151 |
3.37e-5 |
PROSPERO |
|
low complexity region
|
158 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
204 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
206 |
283 |
3.37e-5 |
PROSPERO |
|
low complexity region
|
372 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
419 |
N/A |
INTRINSIC |
|
BAG
|
426 |
503 |
9.22e-27 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit postnatal lethality, growth retardation, cardiomyocyte and skeletal myocyte degeneration, and pulmonary edema. Mice homozygous for a null allele also exhibit postnatal lethality and growth retardation but lack the myocyte degeneration phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,910 (GRCm39) |
H336Q |
probably benign |
Het |
| Abcc2 |
A |
T |
19: 43,807,840 (GRCm39) |
D827V |
probably damaging |
Het |
| Asph |
G |
T |
4: 9,604,620 (GRCm39) |
A139E |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,952,230 (GRCm39) |
D2894G |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,332 (GRCm39) |
S47P |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,413,462 (GRCm39) |
V1118I |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,411,818 (GRCm39) |
C365S |
possibly damaging |
Het |
| Eef1g |
A |
G |
19: 8,950,406 (GRCm39) |
D264G |
probably benign |
Het |
| Fbxw17 |
T |
C |
13: 50,585,619 (GRCm39) |
L274P |
probably benign |
Het |
| Gpc6 |
A |
G |
14: 117,673,420 (GRCm39) |
T226A |
probably benign |
Het |
| Klf12 |
T |
A |
14: 100,260,585 (GRCm39) |
Y48F |
probably damaging |
Het |
| Klhdc4 |
C |
T |
8: 122,548,090 (GRCm39) |
A67T |
probably damaging |
Het |
| Macir |
C |
T |
1: 97,589,551 (GRCm39) |
|
probably null |
Het |
| Madd |
C |
T |
2: 90,968,740 (GRCm39) |
E1596K |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,889,930 (GRCm39) |
Y533C |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,490,862 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
G |
A |
14: 60,534,087 (GRCm39) |
V442I |
possibly damaging |
Het |
| Or4k15b |
C |
T |
14: 50,272,249 (GRCm39) |
G204R |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,061 (GRCm39) |
D270E |
probably benign |
Het |
| Or9i16 |
T |
C |
19: 13,865,167 (GRCm39) |
T136A |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,087,271 (GRCm39) |
N277S |
probably benign |
Het |
| Pias2 |
A |
T |
18: 77,184,977 (GRCm39) |
L12F |
probably damaging |
Het |
| Potefam1 |
G |
T |
2: 111,024,694 (GRCm39) |
Q57K |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,334,106 (GRCm39) |
R3105L |
probably damaging |
Het |
| Rps11 |
A |
G |
7: 44,772,274 (GRCm39) |
V111A |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,321,047 (GRCm39) |
T1543A |
possibly damaging |
Het |
| Vmn2r86 |
C |
A |
10: 130,288,444 (GRCm39) |
R352S |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,125,938 (GRCm39) |
N178S |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,461,068 (GRCm39) |
F355I |
probably damaging |
Het |
|
| Other mutations in Bag3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Bag3
|
APN |
7 |
128,148,065 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01942:Bag3
|
APN |
7 |
128,148,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4377001:Bag3
|
UTSW |
7 |
128,147,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Bag3
|
UTSW |
7 |
128,125,583 (GRCm39) |
start codon destroyed |
possibly damaging |
0.89 |
|
R1991:Bag3
|
UTSW |
7 |
128,147,407 (GRCm39) |
missense |
probably benign |
|
|
R2065:Bag3
|
UTSW |
7 |
128,147,498 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2198:Bag3
|
UTSW |
7 |
128,147,493 (GRCm39) |
frame shift |
probably null |
|
|
R2201:Bag3
|
UTSW |
7 |
128,147,493 (GRCm39) |
frame shift |
probably null |
|
|
R3407:Bag3
|
UTSW |
7 |
128,147,493 (GRCm39) |
frame shift |
probably null |
|
|
R3407:Bag3
|
UTSW |
7 |
128,147,492 (GRCm39) |
frame shift |
probably null |
|
|
R3408:Bag3
|
UTSW |
7 |
128,147,493 (GRCm39) |
frame shift |
probably null |
|
|
R3765:Bag3
|
UTSW |
7 |
128,141,995 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4201:Bag3
|
UTSW |
7 |
128,147,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4430:Bag3
|
UTSW |
7 |
128,125,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5642:Bag3
|
UTSW |
7 |
128,147,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Bag3
|
UTSW |
7 |
128,143,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6298:Bag3
|
UTSW |
7 |
128,141,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8145:Bag3
|
UTSW |
7 |
128,147,612 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9216:Bag3
|
UTSW |
7 |
128,143,923 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGGCTATTTCCAGACACTTCCAC -3'
(R):5'- CCGTTCGAGGCGGATATGGTTAAG -3'
Sequencing Primer
(F):5'- TCCAGACACTTCCACCCCTC -3'
(R):5'- CGGATATGGTTAAGGACTCTCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation