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|Institutional Source||Beutler Lab|
|Gene Name||kelch-like 6|
|Is this an essential gene?||Probably non essential (E-score: 0.069)|
|Stock #||R7957 (G1)|
|Chromosomal Location||19946496-19983037 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 19949451 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 448 (E448G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053023 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058839]|
|Predicted Effect||probably null
AA Change: E448G
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: E448G
|Meta Mutation Damage Score||0.1687|
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
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'- TGGCTAGCACAGAACAATGC -3'
(R):5'- CAAAGAAACACAGCATGATGTTTGG -3'
(F):5'- CAATGCCTATACAGAGCCCTG -3'
(R):5'- CACAGCATGATGTTTGGAAGTAC -3'