|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 49|
|Is this an essential gene?||Probably non essential (E-score: 0.071)|
|Stock #||R6263 (G1)|
|Chromosomal Location||75274988-75482156 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 75481517 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Methionine at position 58 (I58M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000144789 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000193989] [ENSMUST00000203169]|
AA Change: I58M
PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: I58M
|Coding Region Coverage||
|Validation Efficiency||97% (66/68)|
|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 with nine WD repeats. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wdr49||
(F):5'- GGAAGCCATAGATCATTTTAAGGG -3'
(R):5'- TTCGCTTCATTTCAAAGGCAC -3'
(F):5'- TCACTGACTATGCAGATGGC -3'
(R):5'- TTCAAAGGCACATATTAAAGCAGC -3'