|Institutional Source||Beutler Lab|
|Gene Name||B lymphoid kinase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5406 (G1)|
|Chromosomal Location||63372836-63417037 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 63380731 bp|
|Amino Acid Change||Glycine to Valine at position 242 (G242V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000014597 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014597]|
NMR ENSEMBLE OF BLK SH2 DOMAIN, 20 STRUCTURES [SOLUTION NMR]
NMR ENSEMBLE OF BLK SH2 DOMAIN USING CHEMICAL SHIFT REFINEMENT, 20 STRUCTURES [SOLUTION NMR]
|Predicted Effect||probably damaging
AA Change: G242V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: G242V
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Blk||
(F):5'- ATGTGAATCCCTTGGCATCTG -3'
(R):5'- AGGACAGTGTGGTTCTTAAGGC -3'
(F):5'- GGCATCTGGGCTTTATAAACTC -3'
(R):5'- TTAAGGCACATCTGCTCTAGGGAC -3'