Incidental Mutation 'R4991:Washc5'
ID 386222
Institutional Source Beutler Lab
Gene Symbol Washc5
Ensembl Gene ENSMUSG00000022350
Gene Name WASH complex subunit 5
Synonyms strumpellin, E430025E21Rik
MMRRC Submission 042585-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R4991 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 59203846-59246016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59215929 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8C2E7
Predicted Effect probably damaging
Transcript: ENSMUST00000022976
AA Change: S817P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: S817P

DomainStartEndE-ValueType
Pfam:Strumpellin 23 1103 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000227725
AA Change: S367P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.8862 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.0%
Validation Efficiency 95% (73/77)
MGI Phenotype 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
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G T 14: 56,010,922 (GRCm39) T665K probably benign Het
Adgrf3 C T 5: 30,404,146 (GRCm39) V369M probably benign Het
Als2 T C 1: 59,246,927 (GRCm39) K571E probably benign Het
Amer3 A C 1: 34,627,822 (GRCm39) D687A probably benign Het
Asb14 T C 14: 26,637,015 (GRCm39) S586P probably damaging Het
Catspere2 A C 1: 177,925,987 (GRCm39) I218L probably benign Het
Chmp4b A G 2: 154,534,545 (GRCm39) E187G probably benign Het
Cox6b2 T C 7: 4,755,160 (GRCm39) D38G probably damaging Het
Cpm G A 10: 117,504,008 (GRCm39) C138Y probably damaging Het
Csmd3 G T 15: 47,864,874 (GRCm39) P785Q probably damaging Het
Cstf1 A G 2: 172,219,720 (GRCm39) Y277C probably damaging Het
Cstf2t T A 19: 31,061,983 (GRCm39) N506K probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Ebf2 A T 14: 67,627,106 (GRCm39) T265S possibly damaging Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Gm19684 A G 17: 36,438,364 (GRCm39) probably benign Het
Gm29106 T C 1: 118,106,121 (GRCm39) M37T probably benign Het
Grem2 A G 1: 174,664,379 (GRCm39) C157R probably damaging Het
Hdac5 T A 11: 102,096,450 (GRCm39) E252D probably damaging Het
Ifitm3 A T 7: 140,590,372 (GRCm39) F63I probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Irx4 G T 13: 73,413,626 (GRCm39) R32L probably benign Het
Itgb1bp1 C T 12: 21,324,849 (GRCm39) G69D probably damaging Het
Kcnh3 A G 15: 99,130,637 (GRCm39) D418G probably benign Het
Kif1a T C 1: 93,006,530 (GRCm39) T46A probably benign Het
Klk1b26 T A 7: 43,665,673 (GRCm39) probably null Het
Lca5l T C 16: 95,960,932 (GRCm39) E510G possibly damaging Het
Lrriq1 A G 10: 103,036,420 (GRCm39) I911T probably damaging Het
Mios T G 6: 8,215,847 (GRCm39) S348A probably benign Het
Mog T C 17: 37,328,381 (GRCm39) probably null Het
Mtmr7 A G 8: 41,007,386 (GRCm39) S516P probably damaging Het
Nat8f4 T C 6: 85,878,122 (GRCm39) K134E probably benign Het
Nbeal2 C T 9: 110,467,835 (GRCm39) C451Y probably damaging Het
Nkx2-1 T C 12: 56,581,724 (GRCm39) Y41C possibly damaging Het
Nmnat1 G A 4: 149,553,584 (GRCm39) T176M possibly damaging Het
Nrxn3 T A 12: 89,227,244 (GRCm39) I293N probably damaging Het
Or5af2 T C 11: 58,708,544 (GRCm39) S237P probably damaging Het
Or5b97 T G 19: 12,878,815 (GRCm39) T110P probably damaging Het
Or5m8 A G 2: 85,822,631 (GRCm39) M157V probably damaging Het
Osgin1 A G 8: 120,172,028 (GRCm39) E274G probably damaging Het
Otof G A 5: 30,551,525 (GRCm39) R343W probably damaging Het
Pcdha9 A T 18: 37,131,398 (GRCm39) I156F probably damaging Het
Pcsk4 A G 10: 80,161,215 (GRCm39) I233T possibly damaging Het
Pira12 T G 7: 3,898,571 (GRCm39) Q292H probably benign Het
Samd4 A T 14: 47,311,467 (GRCm39) S262C probably damaging Het
Snap91 T C 9: 86,672,207 (GRCm39) probably null Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
St3gal4 A G 9: 34,964,432 (GRCm39) V190A possibly damaging Het
Sv2b T C 7: 74,767,470 (GRCm39) N642S possibly damaging Het
Svil T A 18: 5,056,810 (GRCm39) I561K probably benign Het
Tmem201 A T 4: 149,812,612 (GRCm39) Y235N possibly damaging Het
Tpx2 T C 2: 152,711,644 (GRCm39) S60P probably benign Het
Trpa1 T C 1: 14,980,970 (GRCm39) Y144C probably benign Het
U90926 G A 5: 92,357,879 (GRCm39) P91S probably benign Het
Utp20 G T 10: 88,582,796 (GRCm39) H2780Q probably benign Het
Vmn1r215 T G 13: 23,260,697 (GRCm39) F246V probably damaging Het
Vmn2r72 A G 7: 85,400,338 (GRCm39) L237S probably damaging Het
Zbtb24 A G 10: 41,332,614 (GRCm39) probably null Het
Zfp212 G A 6: 47,903,796 (GRCm39) R127H probably damaging Het
Zfp268 C A 4: 145,348,904 (GRCm39) Q114K probably benign Het
Zfp740 G T 15: 102,116,714 (GRCm39) probably null Het
Other mutations in Washc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Washc5 APN 15 59,209,125 (GRCm39) missense probably damaging 0.99
IGL01096:Washc5 APN 15 59,222,060 (GRCm39) splice site probably benign
IGL01305:Washc5 APN 15 59,227,688 (GRCm39) nonsense probably null
IGL01707:Washc5 APN 15 59,213,864 (GRCm39) missense possibly damaging 0.89
IGL01921:Washc5 APN 15 59,213,958 (GRCm39) splice site probably null
IGL02056:Washc5 APN 15 59,222,185 (GRCm39) missense possibly damaging 0.63
IGL02145:Washc5 APN 15 59,241,060 (GRCm39) missense probably benign
IGL02430:Washc5 APN 15 59,238,140 (GRCm39) missense probably damaging 1.00
IGL02450:Washc5 APN 15 59,204,166 (GRCm39) nonsense probably null
IGL03238:Washc5 APN 15 59,218,691 (GRCm39) missense probably damaging 1.00
IGL03351:Washc5 APN 15 59,235,199 (GRCm39) splice site probably benign
ANU22:Washc5 UTSW 15 59,227,688 (GRCm39) nonsense probably null
R0004:Washc5 UTSW 15 59,239,316 (GRCm39) missense probably damaging 1.00
R0004:Washc5 UTSW 15 59,239,316 (GRCm39) missense probably damaging 1.00
R0100:Washc5 UTSW 15 59,215,947 (GRCm39) missense possibly damaging 0.83
R0100:Washc5 UTSW 15 59,215,947 (GRCm39) missense possibly damaging 0.83
R0179:Washc5 UTSW 15 59,224,379 (GRCm39) missense probably benign 0.01
R0265:Washc5 UTSW 15 59,210,809 (GRCm39) missense probably benign 0.43
R0315:Washc5 UTSW 15 59,213,825 (GRCm39) missense probably damaging 1.00
R0545:Washc5 UTSW 15 59,213,942 (GRCm39) missense possibly damaging 0.50
R0611:Washc5 UTSW 15 59,213,007 (GRCm39) missense probably damaging 0.99
R0636:Washc5 UTSW 15 59,231,258 (GRCm39) missense probably benign 0.01
R1006:Washc5 UTSW 15 59,241,036 (GRCm39) missense probably benign 0.06
R1006:Washc5 UTSW 15 59,241,035 (GRCm39) missense probably benign 0.21
R1237:Washc5 UTSW 15 59,210,757 (GRCm39) splice site probably benign
R1835:Washc5 UTSW 15 59,231,189 (GRCm39) missense possibly damaging 0.86
R1888:Washc5 UTSW 15 59,231,174 (GRCm39) missense probably damaging 0.99
R1888:Washc5 UTSW 15 59,231,174 (GRCm39) missense probably damaging 0.99
R2005:Washc5 UTSW 15 59,213,004 (GRCm39) missense possibly damaging 0.89
R2006:Washc5 UTSW 15 59,213,004 (GRCm39) missense possibly damaging 0.89
R2060:Washc5 UTSW 15 59,222,257 (GRCm39) missense probably damaging 1.00
R2134:Washc5 UTSW 15 59,241,083 (GRCm39) missense probably damaging 1.00
R2139:Washc5 UTSW 15 59,221,991 (GRCm39) missense probably damaging 1.00
R2177:Washc5 UTSW 15 59,235,118 (GRCm39) nonsense probably null
R2975:Washc5 UTSW 15 59,217,207 (GRCm39) missense probably damaging 1.00
R4088:Washc5 UTSW 15 59,211,711 (GRCm39) missense probably damaging 1.00
R4824:Washc5 UTSW 15 59,205,485 (GRCm39) nonsense probably null
R4843:Washc5 UTSW 15 59,222,220 (GRCm39) missense possibly damaging 0.95
R4996:Washc5 UTSW 15 59,205,484 (GRCm39) missense probably benign
R5103:Washc5 UTSW 15 59,222,018 (GRCm39) missense probably damaging 1.00
R5312:Washc5 UTSW 15 59,217,377 (GRCm39) splice site probably null
R5591:Washc5 UTSW 15 59,241,012 (GRCm39) missense probably damaging 1.00
R6073:Washc5 UTSW 15 59,207,019 (GRCm39) missense possibly damaging 0.90
R6123:Washc5 UTSW 15 59,206,959 (GRCm39) missense probably damaging 1.00
R6156:Washc5 UTSW 15 59,217,248 (GRCm39) missense probably damaging 1.00
R6292:Washc5 UTSW 15 59,227,783 (GRCm39) missense probably damaging 1.00
R6297:Washc5 UTSW 15 59,215,895 (GRCm39) missense possibly damaging 0.61
R6374:Washc5 UTSW 15 59,209,044 (GRCm39) missense probably benign 0.14
R6659:Washc5 UTSW 15 59,212,739 (GRCm39) critical splice donor site probably null
R6880:Washc5 UTSW 15 59,222,021 (GRCm39) missense probably benign 0.00
R7146:Washc5 UTSW 15 59,224,350 (GRCm39) nonsense probably null
R7330:Washc5 UTSW 15 59,205,516 (GRCm39) missense probably benign 0.02
R7430:Washc5 UTSW 15 59,241,762 (GRCm39) nonsense probably null
R7490:Washc5 UTSW 15 59,209,053 (GRCm39) missense probably benign 0.18
R7532:Washc5 UTSW 15 59,239,260 (GRCm39) missense possibly damaging 0.46
R7560:Washc5 UTSW 15 59,238,041 (GRCm39) missense probably damaging 0.97
R7803:Washc5 UTSW 15 59,240,308 (GRCm39) missense probably damaging 0.98
R8242:Washc5 UTSW 15 59,215,971 (GRCm39) missense probably damaging 1.00
R8841:Washc5 UTSW 15 59,206,971 (GRCm39) missense probably damaging 1.00
R9022:Washc5 UTSW 15 59,233,069 (GRCm39) missense probably damaging 1.00
R9022:Washc5 UTSW 15 59,217,233 (GRCm39) missense possibly damaging 0.95
R9123:Washc5 UTSW 15 59,209,134 (GRCm39) missense probably damaging 1.00
R9125:Washc5 UTSW 15 59,209,134 (GRCm39) missense probably damaging 1.00
R9310:Washc5 UTSW 15 59,218,067 (GRCm39) missense possibly damaging 0.89
R9423:Washc5 UTSW 15 59,227,735 (GRCm39) missense probably benign
R9556:Washc5 UTSW 15 59,218,716 (GRCm39) missense possibly damaging 0.95
R9569:Washc5 UTSW 15 59,215,980 (GRCm39) missense probably benign
R9668:Washc5 UTSW 15 59,218,062 (GRCm39) critical splice donor site probably null
R9691:Washc5 UTSW 15 59,218,706 (GRCm39) missense probably damaging 1.00
R9718:Washc5 UTSW 15 59,217,192 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- CCTGGCATGATCTAGGTACATG -3'
(R):5'- GCCTTTGGTGGCCATTTAAAATG -3'

Sequencing Primer
(F):5'- CCAGTGCTCAGTAGATAATGGCTC -3'
(R):5'- GTTTTCTCTTCAAAACCAAGGAACAC -3'
Posted On 2016-05-10