|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 33|
|Synonyms||2810021O11Rik, 1110001N06Rik, 8430413N20Rik, 2310011G05Rik, WDC146|
|Is this an essential gene?||Probably essential (E-score: 0.962)|
|Stock #||RF014 (G1)|
|Chromosomal Location||31804057-31908987 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 31881273 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 396 (D396G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025264 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025264]|
|Predicted Effect||probably damaging
AA Change: D396G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D396G
|Coding Region Coverage||
|Validation Efficiency||98% (49/50)|
|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), 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. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wdr33||
(F):5'- CAAAGTAAACGATGCTGAGAGTTC -3'
(R):5'- AGGAGCCCATTTCTTCGAATG -3'
(F):5'- ACGATGCTGAGAGTTCTTTATTAAG -3'
(R):5'- ATTTCTTCGAATGCCACCCCAC -3'