|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 5|
|Synonyms||Bmp2-induced gene, 2410008O07Rik, Big-3|
|Is this an essential gene?||Probably essential (E-score: 0.966)|
|Stock #||R0738 (G1)|
|Chromosomal Location||27515157-27536535 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 27519412 bp|
|Amino Acid Change||Serine to Proline at position 49 (S49P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109585 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113952]|
|Predicted Effect||probably damaging
AA Change: S49P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S49P
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.8285|
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
|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 protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wdr5||
(F):5'- GCTTTCAAGAGAGGTGCTAGGCTC -3'
(R):5'- TGCTGAATGCTAACCAACCCAGAG -3'
(F):5'- CTCACACTGGCAGTTTAAAGG -3'
(R):5'- GAGACCAGTAACAACTAACACAGTC -3'