|Institutional Source||Beutler Lab|
|Gene Name||kelch-like 6|
|Is this an essential gene?||Probably non essential (E-score: 0.086)|
|Stock #||R7688 (G1)|
|Chromosomal Location||19946496-19983037 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 19947131 bp|
|Amino Acid Change||Valine to Leucine at position 574 (V574L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053023 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058839]|
|Predicted Effect||probably damaging
AA Change: V574L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V574L
|Meta Mutation Damage Score||0.4896|
|Coding Region Coverage||
|Validation Efficiency||100% (47/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spleen hypoplasia, defects in mature B-cell subsets with normal pro- and pre-B-cell development, severely impaired antigen-dependent germinal center formation, and reduced memory IgG response. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Klhl6||
(F):5'- TATGGCTCACAAGGAACGAC -3'
(R):5'- CAGAAAGATGACCAGCATGC -3'
(F):5'- CGACGTGGGCAAGCTAG -3'
(R):5'- GATGACCAGCATGCATGTTC -3'