|Institutional Source||Beutler Lab|
|Gene Name||B cell leukemia/lymphoma 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7565 (G1)|
|Chromosomal Location||19808462-19822770 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 19812494 bp|
|Amino Acid Change||Valine to Isoleucine at position 139 (V139I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000113851 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000120537] [ENSMUST00000135609]|
|Predicted Effect||probably damaging
AA Change: V139I
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: V139I
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking functional copies of this gene exhibit defects of the immune system including disruption of the humoral immune response and abnormal spleen and Peyer's patch organogenesis. Mutant mice show increased susceptibility to pathogens. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bcl3||
(F):5'- TGCCCTCTTGTCCCAGGATG -3'
(R):5'- GATGTGACAGTCTGACAGGG -3'
(F):5'- ATGTGGATGCTGGCTCCC -3'
(R):5'- TGTGACAGTCTGACAGGGCAAATAG -3'