Incidental Mutation 'R6880:Washc5'
ID 536632
Institutional Source Beutler Lab
Gene Symbol Washc5
Ensembl Gene ENSMUSG00000022350
Gene Name WASH complex subunit 5
Synonyms strumpellin, E430025E21Rik
MMRRC Submission 044976-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R6880 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 59203846-59246016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59222021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 125 (N125S)
Ref Sequence ENSEMBL: ENSMUSP00000154441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022976] [ENSMUST00000227725]
AlphaFold Q8C2E7
Predicted Effect probably benign
Transcript: ENSMUST00000022976
AA Change: N575S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: N575S

DomainStartEndE-ValueType
Pfam:Strumpellin 23 1103 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227725
AA Change: N125S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.1110 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 97% (62/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T A 3: 36,123,854 (GRCm39) probably null Het
Aff3 T C 1: 38,574,243 (GRCm39) H206R probably damaging Het
Aff3 T C 1: 38,666,209 (GRCm39) D5G possibly damaging Het
Alg5 A G 3: 54,646,264 (GRCm39) E43G probably damaging Het
Ankrd36 T C 11: 5,578,748 (GRCm39) L4P probably damaging Het
Ano1 T C 7: 144,198,479 (GRCm39) Y345C probably benign Het
Atf7ip A G 6: 136,538,038 (GRCm39) I432V probably damaging Het
B230307C23Rik T C 16: 97,798,627 (GRCm39) probably benign Het
Baz2b T A 2: 59,743,283 (GRCm39) N1563Y probably damaging Het
Bhlha15 A T 5: 144,128,451 (GRCm39) T188S probably damaging Het
Cbr3 T C 16: 93,487,426 (GRCm39) V203A probably benign Het
Cpsf1 T C 15: 76,486,739 (GRCm39) T266A probably benign Het
Dnah7c T C 1: 46,566,831 (GRCm39) Y681H probably damaging Het
Dock2 C T 11: 34,579,279 (GRCm39) probably null Het
Dsc1 T A 18: 20,221,429 (GRCm39) D682V probably damaging Het
Fkbp15 A T 4: 62,254,732 (GRCm39) I256N possibly damaging Het
Foxd1 A C 13: 98,491,225 (GRCm39) D33A unknown Het
Gid4 T A 11: 60,327,261 (GRCm39) F149I probably damaging Het
Hmcn2 G T 2: 31,233,068 (GRCm39) V206L probably damaging Het
Ighg2b T C 12: 113,270,726 (GRCm39) I135V Het
Ighv1-24 T C 12: 114,736,663 (GRCm39) Y79C possibly damaging Het
Impg1 T A 9: 80,312,082 (GRCm39) D167V probably damaging Het
Jakmip1 T C 5: 37,262,967 (GRCm39) S372P possibly damaging Het
Kcnb1 T C 2: 166,947,727 (GRCm39) T374A probably damaging Het
Lrrn4 A G 2: 132,714,032 (GRCm39) S305P probably damaging Het
Ltbp1 C T 17: 75,628,044 (GRCm39) T1179I possibly damaging Het
Mab21l2 A G 3: 86,454,463 (GRCm39) I179T possibly damaging Het
Myo5b A T 18: 74,855,501 (GRCm39) H1230L probably benign Het
Myocos T C 1: 162,484,602 (GRCm39) probably null Het
Nipa2 T C 7: 55,582,999 (GRCm39) T249A probably damaging Het
Oas1a C A 5: 121,040,003 (GRCm39) R196L probably damaging Het
Or2ag18 A T 7: 106,405,019 (GRCm39) S217T probably damaging Het
Or5an11 A G 19: 12,245,974 (GRCm39) I127V probably benign Het
Or8k41 A G 2: 86,314,069 (GRCm39) F6L probably benign Het
Phxr2 G A 10: 98,961,946 (GRCm39) probably benign Het
Pigq A G 17: 26,153,802 (GRCm39) L85P probably damaging Het
Pla2g4a T A 1: 149,727,202 (GRCm39) D518V possibly damaging Het
Pm20d1 A G 1: 131,731,839 (GRCm39) K294E probably benign Het
Polr3d C A 14: 70,677,455 (GRCm39) R307L probably benign Het
Pou5f2 T C 13: 78,173,613 (GRCm39) L185P possibly damaging Het
Prex2 A T 1: 11,202,608 (GRCm39) N506Y probably damaging Het
Proser1 T A 3: 53,385,260 (GRCm39) S381T probably benign Het
Prpf4b T C 13: 35,078,436 (GRCm39) V682A possibly damaging Het
Prr14l A T 5: 32,988,211 (GRCm39) L428Q probably benign Het
Prss23 A G 7: 89,160,033 (GRCm39) V12A probably benign Het
Qki T C 17: 10,434,376 (GRCm39) D321G probably benign Het
Rab11fip5 A G 6: 85,325,827 (GRCm39) L193P probably damaging Het
Retreg1 T G 15: 25,971,825 (GRCm39) L245R probably damaging Het
Rfc1 T C 5: 65,434,729 (GRCm39) N679S probably benign Het
Rpl4 C T 9: 64,084,335 (GRCm39) A220V probably damaging Het
Rxra G A 2: 27,638,668 (GRCm39) E224K possibly damaging Het
Slc26a7 A G 4: 14,516,159 (GRCm39) C557R possibly damaging Het
Sncaip A G 18: 53,002,136 (GRCm39) K219R probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sphkap A G 1: 83,234,978 (GRCm39) V1616A probably damaging Het
Sulf1 T C 1: 12,912,979 (GRCm39) C738R probably damaging Het
Suz12 T A 11: 79,892,998 (GRCm39) C38* probably null Het
Ttn T C 2: 76,550,842 (GRCm39) T23190A probably damaging Het
Twnk A G 19: 44,995,855 (GRCm39) D96G probably benign Het
Vcan T A 13: 89,860,500 (GRCm39) N289I probably damaging Het
Vmn2r120 A T 17: 57,816,187 (GRCm39) S723T probably damaging Het
Vmn2r97 A T 17: 19,134,770 (GRCm39) I63F probably benign Het
Zfp865 A G 7: 5,033,548 (GRCm39) Y511C 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
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
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'- GAGAGCTGCTATTCCATGGAAG -3'
(R):5'- TCACAGTGCAGATCATCGGG -3'

Sequencing Primer
(F):5'- GGCTCCAGTACATAGGTCTGTAAC -3'
(R):5'- GGGACCTTTCCTTTGCCTGG -3'
Posted On 2018-10-18