Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02145:Washc5'

281707

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Washc5

Ensembl Gene

ENSMUSG00000022350

Gene Name

WASH complex subunit 5

Synonyms

strumpellin, E430025E21Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL02145

Quality Score

Status

Chromosome

Chromosomal Location

59203846-59246016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59241060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 92 (V92L)

Ref Sequence

ENSEMBL: ENSMUSP00000022976 (fasta)

Gene Model

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

AlphaFold

Q8C2E7

Predicted Effect

probably benign
Transcript: ENSMUST00000022976
AA Change: V92L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: V92L

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

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agt	A	G	8: 125,291,187 (GRCm39)	L40P	probably damaging	Het
Ahnak	T	C	19: 8,980,219 (GRCm39)	I501T	probably benign	Het
Aldh2	A	G	5: 121,706,056 (GRCm39)	*196Q	probably null	Het
Ankrd65	A	G	4: 155,875,848 (GRCm39)	D23G	possibly damaging	Het
Anln	A	T	9: 22,250,292 (GRCm39)		probably null	Het
Armc3	C	T	2: 19,301,671 (GRCm39)	S663L	possibly damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Cul5	A	T	9: 53,546,375 (GRCm39)		probably benign	Het
Cyba	T	C	8: 123,151,796 (GRCm39)	I134V	probably damaging	Het
Cybb	T	A	X: 9,323,257 (GRCm39)	Q93H	probably damaging	Het
Cyp4f37	G	T	17: 32,849,009 (GRCm39)	K292N	probably benign	Het
Dmxl2	T	C	9: 54,281,981 (GRCm39)	I2850V	probably benign	Het
Ep300	T	C	15: 81,485,367 (GRCm39)	I118T	unknown	Het
Ercc6l	G	T	X: 101,189,148 (GRCm39)	P454T	probably benign	Het
Grxcr1	A	G	5: 68,267,821 (GRCm39)	E190G	probably damaging	Het
Heatr3	C	T	8: 88,871,227 (GRCm39)	R194C	probably benign	Het
Hspa12b	C	T	2: 130,985,655 (GRCm39)		probably benign	Het
Inpp5d	T	C	1: 87,642,777 (GRCm39)	V644A	probably damaging	Het
Kif26a	G	A	12: 112,143,409 (GRCm39)	R1221H	probably benign	Het
Klra8	T	C	6: 130,102,199 (GRCm39)	N79D	probably benign	Het
Kntc1	T	C	5: 123,900,661 (GRCm39)	I253T	possibly damaging	Het
Lamp5	T	C	2: 135,901,509 (GRCm39)	V111A	possibly damaging	Het
Lmo7	T	C	14: 102,139,659 (GRCm39)	S859P	probably benign	Het
Mgarp	T	C	3: 51,296,453 (GRCm39)	Q205R	possibly damaging	Het
Morf4l1	A	G	9: 89,975,848 (GRCm39)	Y315H	probably benign	Het
Naip6	A	T	13: 100,433,486 (GRCm39)	V1117E	possibly damaging	Het
Nipal1	A	G	5: 72,824,274 (GRCm39)	D206G	probably damaging	Het
Notch3	A	G	17: 32,373,715 (GRCm39)	S498P	probably benign	Het
Npepps	A	G	11: 97,109,328 (GRCm39)		probably null	Het
Or14c46	C	A	7: 85,918,466 (GRCm39)	C177F	probably damaging	Het
Or2ak6	T	C	11: 58,592,886 (GRCm39)	Y120H	probably damaging	Het
Phlpp1	A	G	1: 106,317,613 (GRCm39)	H1278R	probably damaging	Het
Pprc1	C	A	19: 46,053,329 (GRCm39)		probably benign	Het
Rab8b	A	T	9: 66,755,000 (GRCm39)		probably benign	Het
Ripor2	T	A	13: 24,901,554 (GRCm39)	I875N	probably damaging	Het
Samd9l	T	C	6: 3,374,105 (GRCm39)	E1052G	probably benign	Het
Slit3	A	T	11: 35,520,569 (GRCm39)	I569F	probably damaging	Het
Spata2l	C	T	8: 123,960,770 (GRCm39)	G173D	possibly damaging	Het
Stc2	T	G	11: 31,317,875 (GRCm39)		probably benign	Het
Tm6sf1	C	A	7: 81,513,000 (GRCm39)	Y65*	probably null	Het
Tspan15	A	G	10: 62,029,751 (GRCm39)		probably benign	Het
Vmn2r14	A	T	5: 109,368,454 (GRCm39)	Y179*	probably null	Het
Wiz	A	G	17: 32,575,893 (GRCm39)	S838P	probably benign	Het
Zp2	T	A	7: 119,739,074 (GRCm39)		probably null	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
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
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

2015-04-16