|Institutional Source||Beutler Lab|
|Gene Name||B cell leukemia/lymphoma 6|
|Is this an essential gene?||Probably essential (E-score: 0.945)|
|Stock #||R5371 (G1)|
|Chromosomal Location||23965052-23988852 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 23969986 bp|
|Amino Acid Change||Aspartic acid to Valine at position 544 (D544V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023151 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023151]|
|Predicted Effect||possibly damaging
AA Change: D544V
PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: D544V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3572|
|Coding Region Coverage||
|Validation Efficiency||96% (71/74)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mutants develop myocarditis and pulmonary vasculitis, show impaired germinal center formation in the spleen, and display T helper 2 cell hyperimmune responsiveness. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bcl6||
(F):5'- AAGACAGGGTTAATCCTCTGGG -3'
(R):5'- ACATTGGCAGAGTTCCAGAGG -3'
(F):5'- ATCTGATATGTGTGACCCCCAAG -3'
(R):5'- CAGAGTTCCAGAGGCGGGAG -3'