|Institutional Source||Beutler Lab|
|Gene Name||kelch-like 10|
|Is this an essential gene?||Possibly non essential (E-score: 0.446)|
|Stock #||R7086 (G1)|
|Chromosomal Location||100441917-100457022 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 100456942 bp|
|Amino Acid Change||Valine to Alanine at position 608 (V608A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001599 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001599]|
|Predicted Effect||probably benign
AA Change: V608A
PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: V608A
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]
PHENOTYPE: Disruption of one allele results in haploinsufficient male infertility in which heterozygous and chimeric males have a block in spermiogenesis. Female chimeras are fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Klhl10||
(F):5'- AGTGGACGACCTCTTGTTTG -3'
(R):5'- CTGTGTGTTGAATGTAATCCCC -3'
(F):5'- ACCACCTTTAACGTTGAGTGCTATG -3'
(R):5'- GTGTTGAATGTAATCCCCTTCCTTAC -3'