Incidental Mutation 'R0100:Washc5'
ID 16369
Institutional Source Beutler Lab
Gene Symbol Washc5
Ensembl Gene ENSMUSG00000022350
Gene Name WASH complex subunit 5
Synonyms strumpellin, E430025E21Rik
MMRRC Submission 038386-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R0100 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 59203846-59246016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59215947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 811 (F811L)
Ref Sequence ENSEMBL: ENSMUSP00000022976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022976] [ENSMUST00000227725]
AlphaFold Q8C2E7
Predicted Effect possibly damaging
Transcript: ENSMUST00000022976
AA Change: F811L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: F811L

DomainStartEndE-ValueType
Pfam:Strumpellin 23 1103 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227725
AA Change: F361L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.1547 question?
Coding Region Coverage
  • 1x: 90.3%
  • 3x: 88.1%
  • 10x: 82.7%
  • 20x: 75.2%
Validation Efficiency 89% (68/76)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,259,415 (GRCm39) C814R probably damaging Het
Aoc1 T C 6: 48,885,538 (GRCm39) I681T possibly damaging Het
Atp13a4 T C 16: 29,240,542 (GRCm39) H793R probably damaging Het
Atp6v0a4 T C 6: 38,053,750 (GRCm39) I351V probably benign Het
Bbof1 T A 12: 84,457,829 (GRCm39) D31E probably benign Het
Cpxm2 T A 7: 131,656,600 (GRCm39) H554L possibly damaging Het
Ddx55 C T 5: 124,694,845 (GRCm39) T91I probably damaging Het
Dhx57 T C 17: 80,582,585 (GRCm39) D340G possibly damaging Het
Dnah1 C T 14: 30,984,109 (GRCm39) probably null Het
Dpp9 C T 17: 56,512,854 (GRCm39) G118D possibly damaging Het
Etl4 T C 2: 20,344,716 (GRCm39) S4P probably benign Het
Fat4 A C 3: 39,034,397 (GRCm39) N2683T probably damaging Het
Gabrb2 A G 11: 42,378,141 (GRCm39) D119G probably damaging Het
Garre1 A G 7: 33,953,436 (GRCm39) I442T possibly damaging Het
Greb1 T A 12: 16,730,225 (GRCm39) Q1734L probably benign Het
Gtf2ird2 T C 5: 134,245,857 (GRCm39) L705P probably damaging Het
H13 T A 2: 152,531,783 (GRCm39) probably null Het
Hgs T G 11: 120,373,678 (GRCm39) Y708D possibly damaging Het
Hip1 T C 5: 135,465,307 (GRCm39) D367G probably benign Het
Ift140 C T 17: 25,309,928 (GRCm39) Q1112* probably null Het
Il17b A G 18: 61,823,342 (GRCm39) M59V probably benign Het
Lpin3 T C 2: 160,747,260 (GRCm39) Y829H probably damaging Het
Lrrk2 A T 15: 91,629,999 (GRCm39) N1230I probably damaging Het
Mindy2 C A 9: 70,514,731 (GRCm39) probably benign Het
Nup210 T G 6: 91,046,175 (GRCm39) E586A probably benign Het
Or1j17 A T 2: 36,578,923 (GRCm39) N303I probably benign Het
Or2bd2 C T 7: 6,443,399 (GRCm39) R167C probably damaging Het
Or5be3 T C 2: 86,863,939 (GRCm39) T209A probably benign Het
Osgepl1 A G 1: 53,362,372 (GRCm39) I405V probably damaging Het
Pdcd11 T C 19: 47,091,105 (GRCm39) S360P probably benign Het
Plekha6 T C 1: 133,197,915 (GRCm39) S271P probably damaging Het
Plekhs1 A G 19: 56,466,934 (GRCm39) E255G probably damaging Het
Pram1 T A 17: 33,860,373 (GRCm39) N313K possibly damaging Het
Rapgef5 C T 12: 117,685,034 (GRCm39) S261L probably benign Het
Spint5 T A 2: 164,558,920 (GRCm39) C49S probably damaging Het
Tex22 T A 12: 113,052,392 (GRCm39) I150N probably benign Het
Thoc6 A T 17: 23,888,824 (GRCm39) W195R probably damaging Het
Tmem106a T C 11: 101,477,084 (GRCm39) S98P probably benign Het
Tnfrsf18 A G 4: 156,112,823 (GRCm39) T170A probably benign Het
Tor1aip1 A T 1: 155,882,821 (GRCm39) D342E probably damaging Het
Trav7-6 T C 14: 53,954,529 (GRCm39) S20P probably damaging Het
Trpc6 C T 9: 8,653,035 (GRCm39) P614S probably damaging 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
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
R4991:Washc5 UTSW 15 59,215,929 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-01-20