|Institutional Source||Beutler Lab|
|Gene Name||WASH complex subunit 5|
|Is this an essential gene?||Probably essential (E-score: 0.932)|
|Stock #||R4991 (G1)|
|Chromosomal Location||59331997-59374167 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 59344080 bp|
|Amino Acid Change||Serine to Proline at position 817 (S817P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022976 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022976] [ENSMUST00000227725]|
|Predicted Effect||probably damaging
AA Change: S817P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S817P
|Predicted Effect||possibly damaging
AA Change: S367P
PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|Meta Mutation Damage Score||0.412|
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal coat color and melanocyte stem cells but enlarged, clustered WASH- and WAFL-positive vesicles. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Washc5||
(F):5'- CCTGGCATGATCTAGGTACATG -3'
(R):5'- GCCTTTGGTGGCCATTTAAAATG -3'
(F):5'- CCAGTGCTCAGTAGATAATGGCTC -3'
(R):5'- GTTTTCTCTTCAAAACCAAGGAACAC -3'