|Institutional Source||Beutler Lab|
|Gene Name||BCL2-associated athanogene 4|
|Is this an essential gene?||Probably non essential (E-score: 0.175)|
|Stock #||R4467 (G1)|
|Chromosomal Location||25764538-25785287 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 25769488 bp (GRCm38)|
|Amino Acid Change||Alanine to Threonine at position 228 (A228T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044725 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038498]|
AA Change: A228T
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: A228T
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous mutant animals may show enhanced cytokine response and increased IL-6 production following TNF challenge. Studies on two different alleles of this gene are not in agreement. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bag4||
(F):5'- TCCTACCTTAGGCTGCTGAG -3'
(R):5'- AGCCAGGTTTTCTCAGGTG -3'
(F):5'- CCTTAGGCTGCTGAGGTGGG -3'
(R):5'- CTCAGGTGTGGAGAACTTTTGGTAAC -3'