Incidental Mutation 'R6156:Washc5'
ID 489615
Institutional Source Beutler Lab
Gene Symbol Washc5
Ensembl Gene ENSMUSG00000022350
Gene Name WASH complex subunit 5
Synonyms strumpellin, E430025E21Rik
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R6156 (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 59217248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 323 (E323G)
Ref Sequence ENSEMBL: ENSMUSP00000154441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022976] [ENSMUST00000227725]
AlphaFold Q8C2E7
Predicted Effect probably damaging
Transcript: ENSMUST00000022976
AA Change: E773G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: E773G

DomainStartEndE-ValueType
Pfam:Strumpellin 23 1103 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000227725
AA Change: E323G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign 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
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'- TCTCTGAAAGGTGCTCTGC -3'
(R):5'- AGTGTTGACCGTTTGCTCC -3'

Sequencing Primer
(F):5'- GCGGGACTCAACCATTTTCAGTAG -3'
(R):5'- ACCGTTTGCTCCTGTTGATAG -3'
Posted On 2017-10-10