|Institutional Source||Beutler Lab|
|Gene Name||kelch repeat and BTB (POZ) domain containing 13|
|Is this an essential gene?||Possibly non essential (E-score: 0.301)|
|Stock #||R1594 (G1)|
|Chromosomal Location||65388684-65391652 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 65391619 bp|
|Amino Acid Change||Tryptophan to Arginine at position 12 (W12R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000136872 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068307]|
|Predicted Effect||probably benign
AA Change: W12R
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: W12R
|Meta Mutation Damage Score||0.0836|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kbtbd13||
(F):5'- GCACAAAAGCGAGCAGTTGTCC -3'
(R):5'- GAATGACCACACAGGTGTCCAGATG -3'
(F):5'- AGCAGTTGTCCGACGTGAC -3'
(R):5'- GAGCAGATCCTATCTTTAGCCAGG -3'