|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 #||R4430 (G1)|
|Chromosomal Location||128523616-128546981 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 128523923 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 22 (D22G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033136 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033136]|
|Predicted Effect||probably damaging
AA Change: D22G
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: D22G
|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'- AATTCATAAAGGTGCCCGGC -3'
(R):5'- CGGATATGGTTAAGGACTCTCC -3'
(F):5'- ATCGGCTACACAGAGGT -3'
(R):5'- TGGGGTGACTCGCATAGC -3'