|Institutional Source||Beutler Lab|
|Gene Name||BCL2-associated athanogene 3|
|Synonyms||Bcl-2-interacting death suppressor, Bis|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5642 (G1)|
|Chromosomal Location||128523616-128546981 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 128546106 bp|
|Amino Acid Change||Arginine to Tryptophan at position 482 (R482W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033136 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033136]|
|PDB Structure||Solution structure of the Murine BAG domain of Bcl2-associated athanogene 3 [SOLUTION NMR]|
|Predicted Effect||probably damaging
AA Change: R482W
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R482W
|Coding Region Coverage||
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||
|Other mutations in Bag3||
(F):5'- CCAAGAATGTGGCTGCAGAAC -3'
(R):5'- TATCCTTGTCGGCTACCACG -3'
(F):5'- CCCTAAGCATCCAGGTGTG -3'
(R):5'- GGCACCCATGATTTCCTGGAG -3'