|Institutional Source||Beutler Lab|
|Gene Name||WAS protein family, member 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5080 (G1)|
|Chromosomal Location||146384985-146473615 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 146461097 bp|
|Amino Acid Change||Histidine to Tyrosine at position 225 (H225Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000016143 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000016143]|
|Predicted Effect||probably benign
AA Change: H225Y
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: H225Y
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal platelet physiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wasf3||
(F):5'- TTGTAACTGCATCTAACCTGCTG -3'
(R):5'- AAAGGCTTGCAAAGTGACCC -3'
(F):5'- ACTGCATCTAACCTGCTGTTTTC -3'
(R):5'- GGCTTGCAAAGTGACCCACATTC -3'