|Institutional Source||Beutler Lab|
|Gene Name||kelch-like 9|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0319 (G1)|
|Chromosomal Location||88718292-88722465 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 88720454 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 517 (Y517N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000092602 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000094993] [ENSMUST00000181601]|
|Predicted Effect||possibly damaging
AA Change: Y517N
PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: Y517N
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1921|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Klhl9||
(F):5'- TCTGGACAATTTCTACCATGCACCG -3'
(R):5'- ACGTTGCAAAGATGAGTGAACCCC -3'
(F):5'- CCGGTTATTCCAAGAATATCCAC -3'
(R):5'- GATGAGTGAACCCCACTATGGC -3'