|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 60|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1065 (G1)|
|Chromosomal Location||116206262-116263022 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 116256076 bp (GRCm38)|
|Amino Acid Change||Arginine to Histidine at position 82 (R82H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047334 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039349] [ENSMUST00000222679]|
AA Change: R82H
PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: R82H
|Meta Mutation Damage Score||0.1193|
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wdr60||
(F):5'- TCTCGACTCAAGAGGTCATGGTAGG -3'
(R):5'- TGCCCAGACAGTGACAGTAAATGC -3'
(F):5'- ctctgcttcttggtctcgat -3'
(R):5'- GCTTTCATAGTGACAGAGGGTC -3'