Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Washc5'

205219

Institutional Source

Beutler Lab

Gene Symbol

Washc5

Ensembl Gene

ENSMUSG00000022350

Gene Name

WASH complex subunit 5

Synonyms

strumpellin, E430025E21Rik

MMRRC Submission

039862-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59203846-59246016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59231189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 358 (N358S)

Ref Sequence

ENSEMBL: ENSMUSP00000022976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022976]

AlphaFold

Q8C2E7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022976
AA Change: N358S

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: N358S

Domain	Start	End	E-Value	Type
Pfam:Strumpellin	23	1103	N/A	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

Validation Efficiency

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adam4	T	C	12: 81,466,333 (GRCm39)	I763V	probably benign	Het
Aipl1	T	G	11: 71,921,325 (GRCm39)	K190T	possibly damaging	Het
Alms1	T	A	6: 85,655,485 (GRCm39)	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,027,136 (GRCm39)	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,338,444 (GRCm39)	S365R	probably benign	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Apc	T	A	18: 34,450,130 (GRCm39)	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,822,098 (GRCm39)	V501I	probably benign	Het
Baz2b	T	C	2: 59,732,163 (GRCm39)	E1994G	probably benign	Het
Bltp2	G	T	11: 78,178,576 (GRCm39)	V1993F	probably damaging	Het
Cacna1a	T	C	8: 85,307,986 (GRCm39)		probably null	Het
Cacna1h	C	A	17: 25,611,050 (GRCm39)	V583L	probably benign	Het
Cd55	T	C	1: 130,375,346 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,937,494 (GRCm39)	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,798,237 (GRCm39)	D1674V	probably benign	Het
Churc1	T	C	12: 76,820,071 (GRCm39)	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,986,604 (GRCm39)	I280T	probably benign	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Cyp2b9	A	G	7: 25,900,208 (GRCm39)	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813 (GRCm39)	R51G	probably damaging	Het
Ddb1	T	C	19: 10,603,957 (GRCm39)	V888A	probably damaging	Het
Disp1	A	G	1: 182,870,564 (GRCm39)	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,438,402 (GRCm39)	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,394,164 (GRCm39)	T143A	possibly damaging	Het
Eps8	T	A	6: 137,499,277 (GRCm39)	K204*	probably null	Het
Ercc5	T	A	1: 44,220,035 (GRCm39)	S1102R	probably benign	Het
Ergic2	T	A	6: 148,091,079 (GRCm39)	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,362,560 (GRCm39)	L274M	probably damaging	Het
Fat3	G	A	9: 15,909,384 (GRCm39)	T2206I	probably damaging	Het
Fat4	A	G	3: 39,037,720 (GRCm39)	I3791V	probably benign	Het
Gemin4	A	G	11: 76,104,122 (GRCm39)	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,025,723 (GRCm39)	M119V	probably benign	Het
Heatr5b	A	T	17: 79,080,992 (GRCm39)	L1420Q	probably damaging	Het
Herc2	G	T	7: 55,856,513 (GRCm39)	G3918*	probably null	Het
Ints9	A	G	14: 65,269,705 (GRCm39)	Y465C	probably damaging	Het
Ist1	A	G	8: 110,405,515 (GRCm39)	V175A	probably damaging	Het
Kcnj12	T	C	11: 60,960,383 (GRCm39)	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,536,611 (GRCm39)	S416G	probably benign	Het
Kdm3a	T	A	6: 71,590,940 (GRCm39)	T295S	probably benign	Het
Kif1c	T	A	11: 70,599,797 (GRCm39)	M479K	probably damaging	Het
Kif20b	T	C	19: 34,933,438 (GRCm39)	L83P	probably damaging	Het
Kndc1	A	G	7: 139,507,624 (GRCm39)	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,595,556 (GRCm39)	M81V	probably benign	Het
Map4k5	C	A	12: 69,871,436 (GRCm39)	M495I	probably damaging	Het
Mest	C	T	6: 30,742,790 (GRCm39)	R146C	probably benign	Het
Mettl24	T	A	10: 40,613,812 (GRCm39)		probably null	Het
Mical1	T	C	10: 41,359,531 (GRCm39)	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,239,694 (GRCm39)	Y77*	probably null	Het
Mss51	A	T	14: 20,533,246 (GRCm39)	C408*	probably null	Het
Myh6	T	C	14: 55,194,858 (GRCm39)	T666A	probably benign	Het
Myo10	T	C	15: 25,805,673 (GRCm39)	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,359,726 (GRCm39)	Y503*	probably null	Het
Neil1	A	C	9: 57,053,888 (GRCm39)	F144C	probably damaging	Het
Nipbl	T	A	15: 8,373,001 (GRCm39)	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nt5el	C	A	13: 105,218,702 (GRCm39)	A12E	unknown	Het
Ntng2	G	A	2: 29,087,069 (GRCm39)	Q384*	probably null	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or10j27	A	G	1: 172,958,382 (GRCm39)	V134A	probably benign	Het
Or13a22	A	G	7: 140,072,622 (GRCm39)	S24G	probably benign	Het
Or14j8	C	T	17: 38,263,276 (GRCm39)	G213E	possibly damaging	Het
Or1e22	A	C	11: 73,377,200 (GRCm39)	V150G	probably benign	Het
Or2j3	A	T	17: 38,616,203 (GRCm39)	S50T	probably benign	Het
Or2y1	A	T	11: 49,385,497 (GRCm39)	I46F	probably damaging	Het
Patj	A	G	4: 98,379,827 (GRCm39)	D151G	probably benign	Het
Plpbp	T	C	8: 27,539,259 (GRCm39)	V126A	probably damaging	Het
Pold2	A	G	11: 5,823,454 (GRCm39)	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,486,650 (GRCm39)	S480A	probably damaging	Het
Pum1	T	C	4: 130,428,359 (GRCm39)	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,014,925 (GRCm39)	G353A	probably damaging	Het
Reln	C	A	5: 22,184,000 (GRCm39)	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,266,071 (GRCm39)	I9V	probably benign	Het
Ryr2	T	C	13: 11,784,764 (GRCm39)	H1063R	probably benign	Het
Samd14	C	G	11: 94,914,426 (GRCm39)	D361E	probably damaging	Het
Samd15	A	T	12: 87,248,617 (GRCm39)	N365I	probably damaging	Het
Sec16b	A	G	1: 157,358,882 (GRCm39)	H105R	probably benign	Het
Sez6	T	C	11: 77,844,329 (GRCm39)	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,789,350 (GRCm39)	L236Q	probably damaging	Het
Sspo	C	T	6: 48,434,274 (GRCm39)	T991I	probably damaging	Het
Suco	A	T	1: 161,687,069 (GRCm39)	L97*	probably null	Het
Tab1	C	A	15: 80,032,497 (GRCm39)	R35S	probably benign	Het
Tet3	C	A	6: 83,381,145 (GRCm39)	S341I	possibly damaging	Het
Tlr1	A	T	5: 65,083,043 (GRCm39)	D511E	probably benign	Het
Tmem132b	A	C	5: 125,862,963 (GRCm39)	D656A	probably damaging	Het
Tmtc4	T	A	14: 123,179,400 (GRCm39)		probably null	Het
Trmo	T	C	4: 46,380,158 (GRCm39)	T404A	probably damaging	Het
Trpm1	A	G	7: 63,880,016 (GRCm39)	K790E	probably damaging	Het
Ulk4	C	A	9: 120,997,250 (GRCm39)	R774M	probably null	Het
Ush2a	C	T	1: 188,184,015 (GRCm39)	L1440F	probably benign	Het
Usp16	A	G	16: 87,277,795 (GRCm39)	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511 (GRCm39)	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,565,111 (GRCm39)	I255N	probably damaging	Het
Vmn2r61	A	T	7: 41,916,076 (GRCm39)	R230*	probably null	Het
Vps13c	T	A	9: 67,900,295 (GRCm39)	F3671L	probably benign	Het
Wdr72	A	G	9: 74,058,899 (GRCm39)	K331E	probably damaging	Het
Zfp986	A	T	4: 145,625,805 (GRCm39)	K155I	probably benign	Het

Other mutations in Washc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- ACTTGGAGCTCTGATTTGCC -3'
(R):5'- TACTTGTCAGGGGATTCAACTG -3'

Sequencing Primer
(F):5'- GAGCTCTGATTTGCCACCTGG -3'
(R):5'- TCAGGGGATTCAACTGAATATAATTC -3'

Posted On

2014-06-23