|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 11|
|Is this an essential gene?||Probably non essential (E-score: 0.249)|
|Stock #||R7463 (G1)|
|Chromosomal Location||129591863-129635738 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 129607086 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 427 (D427V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081567 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084519]|
|AlphaFold||no structure available at present|
AA Change: D427V
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: D427V
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
|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 located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wdr11||
(F):5'- ACAGTTGCTTCACTGTGGCC -3'
(R):5'- TAGAGCAGAGCCTTCAACCC -3'
(F):5'- CTGTGGCCAAGATTAATAATTGCTGC -3'
(R):5'- TTTTCTAAATCCAACAACTGCAGAGC -3'