|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 36|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R3522 (G1)|
|Chromosomal Location||32837225-32866420 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 32861485 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000132189 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053663] [ENSMUST00000166214]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
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), which may facilitate 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. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality before implantation. In culture, homozygous mutant embryos fail to reach the blastocyst stage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wdr36||
(F):5'- TGGTACTTGTCAAACCCAAGG -3'
(R):5'- ACACTAGAGCAGTACCTTGATAAC -3'
(F):5'- GGTACTTGTCAAACCCAAGGTAATC -3'
(R):5'- CATCAAGATTCAGAAGGTTTTTCCAG -3'