|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 60|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7254 (G1)|
|Chromosomal Location||116206262-116263022 bp(-) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||A to G at 116262585 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000047334 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039349] [ENSMUST00000222679]|
|Predicted Effect||probably benign
AA Change: V40A
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
|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'- CAAGGGTCCTTTATAATAGACGCTAAG -3'
(R):5'- CTTTCTTGGCAATGGAGATCGG -3'
(F):5'- gtattgcaccaaaccgga -3'
(R):5'- AATGGAGATCGGGTTCCTCC -3'