|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 35|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6816 (G1)|
|Chromosomal Location||8973892-9028847 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||G to A at 9027724 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000106742 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000085741] [ENSMUST00000085745] [ENSMUST00000111113] [ENSMUST00000219470] [ENSMUST00000219488]|
|Coding Region Coverage||
|Validation Efficiency||96% (49/51)|
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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wdr35||
(F):5'- AGATCTACTCTCTGTTAGCACTCTG -3'
(R):5'- ACGTGATTGGTCTGTCTACTC -3'
(F):5'- CTTTAGAGACGCTCAGTG -3'
(R):5'- ACGTGATTGGTCTGTCTACTCTACTC -3'