|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 60|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1023 (G1)|
|Chromosomal Location||116206262-116263022 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 116232657 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 490 (E490G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047334 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039349]|
|Predicted Effect||probably damaging
AA Change: E490G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: E490G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.42|
|Coding Region Coverage||
|Validation Efficiency||100% (42/42)|
|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'- GGATCAGACTAGGGTTCAGGCCAAT -3'
(R):5'- AGTCTAACATAGCCTCTTGGGGCAT -3'
(F):5'- GACTAGGGTTCAGGCCAATTTAATG -3'
(R):5'- acatccgcagtcagaagag -3'