Incidental Mutation 'IGL00325:Bag3'
ID |
5121 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bag3
|
Ensembl Gene |
ENSMUSG00000030847 |
Gene Name |
BCL2-associated athanogene 3 |
Synonyms |
Bcl-2-interacting death suppressor, Bis |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00325
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
128125340-128148705 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 128148065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 560
(T560K)
|
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: T560K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000033136 Gene: ENSMUSG00000030847 AA Change: T560K
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 |
|
Validation Efficiency |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
G |
11: 69,773,517 (GRCm39) |
S431P |
possibly damaging |
Het |
Arid1b |
C |
A |
17: 5,387,385 (GRCm39) |
R1613S |
possibly damaging |
Het |
Atxn2l |
T |
C |
7: 126,097,460 (GRCm39) |
D196G |
possibly damaging |
Het |
BC051076 |
A |
G |
5: 88,112,354 (GRCm39) |
|
probably benign |
Het |
Becn1 |
A |
T |
11: 101,186,448 (GRCm39) |
M18K |
probably benign |
Het |
C130050O18Rik |
G |
A |
5: 139,400,493 (GRCm39) |
C182Y |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,811,627 (GRCm39) |
|
probably benign |
Het |
Cfap97 |
C |
T |
8: 46,623,222 (GRCm39) |
S204L |
probably damaging |
Het |
Gaa |
A |
G |
11: 119,165,786 (GRCm39) |
T100A |
probably benign |
Het |
Gab2 |
C |
T |
7: 96,948,465 (GRCm39) |
P352S |
probably damaging |
Het |
Gckr |
T |
A |
5: 31,465,111 (GRCm39) |
I360N |
possibly damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gulo |
G |
T |
14: 66,243,398 (GRCm39) |
A40D |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,266,204 (GRCm39) |
I671V |
probably benign |
Het |
Itgax |
T |
C |
7: 127,747,481 (GRCm39) |
V1028A |
possibly damaging |
Het |
Lamb3 |
T |
C |
1: 193,002,755 (GRCm39) |
C67R |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,235,868 (GRCm39) |
V1237E |
probably damaging |
Het |
Nat8 |
C |
T |
6: 85,807,579 (GRCm39) |
V185M |
probably benign |
Het |
Ninj2 |
A |
C |
6: 120,175,023 (GRCm39) |
T65P |
probably benign |
Het |
Nrg2 |
T |
C |
18: 36,154,271 (GRCm39) |
M549V |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,962,818 (GRCm39) |
M801V |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,170,875 (GRCm39) |
D589G |
probably damaging |
Het |
Ppp1r35 |
T |
A |
5: 137,777,799 (GRCm39) |
V155E |
probably damaging |
Het |
Prss36 |
T |
A |
7: 127,544,099 (GRCm39) |
|
probably benign |
Het |
Raver2 |
A |
G |
4: 100,960,065 (GRCm39) |
K182E |
probably damaging |
Het |
Ring1 |
T |
G |
17: 34,241,983 (GRCm39) |
E142A |
possibly damaging |
Het |
Sidt2 |
T |
A |
9: 45,853,534 (GRCm39) |
M689L |
possibly damaging |
Het |
Slc45a4 |
A |
G |
15: 73,459,504 (GRCm39) |
V95A |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,947,480 (GRCm39) |
V1278A |
possibly damaging |
Het |
Stk36 |
A |
T |
1: 74,673,861 (GRCm39) |
K1251N |
possibly damaging |
Het |
Utp14b |
T |
A |
1: 78,642,262 (GRCm39) |
S53R |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,575,858 (GRCm39) |
E243V |
probably benign |
Het |
|
Other mutations in Bag3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R0577:Bag3
|
UTSW |
7 |
128,125,611 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2012-04-20 |