Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00861:Washc5'

10434

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 #

IGL00861

Quality Score

Status

Chromosome

Chromosomal Location

59203846-59246016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59209125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1033 (T1033K)

Ref Sequence

ENSEMBL: ENSMUSP00000022976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022976] [ENSMUST00000227725]

AlphaFold

Q8C2E7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022976
AA Change: T1033K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: T1033K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227725
AA Change: T583K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm2	G	A	15: 89,207,488 (GRCm39)		probably benign	Het
Ambra1	T	A	2: 91,601,271 (GRCm39)	D189E	possibly damaging	Het
Atg16l1	G	A	1: 87,702,560 (GRCm39)	G274S	probably damaging	Het
Cdh20	C	A	1: 109,988,718 (GRCm39)		probably benign	Het
Chat	T	C	14: 32,170,980 (GRCm39)	Y173C	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Ctnnd1	T	C	2: 84,434,096 (GRCm39)	D874G	probably damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Depdc5	T	C	5: 33,125,158 (GRCm39)		probably null	Het
Eef1b2	G	A	1: 63,217,665 (GRCm39)	G91R	probably damaging	Het
Fut10	G	T	8: 31,725,733 (GRCm39)	V163F	probably damaging	Het
Glmn	A	T	5: 107,718,005 (GRCm39)	M304K	possibly damaging	Het
Klra6	A	G	6: 130,000,663 (GRCm39)	V47A	possibly damaging	Het
Lgi2	T	C	5: 52,695,463 (GRCm39)	K491E	probably benign	Het
Lrrc72	T	A	12: 36,271,507 (GRCm39)	Q138L	probably benign	Het
Nherf4	A	G	9: 44,160,933 (GRCm39)	L211P	possibly damaging	Het
Nxph2	T	A	2: 23,289,974 (GRCm39)	F109I	probably damaging	Het
Oosp3	A	G	19: 11,689,004 (GRCm39)	D84G	probably benign	Het
Poc1b	C	T	10: 98,965,514 (GRCm39)	R106C	probably benign	Het
Ptk2	A	G	15: 73,134,396 (GRCm39)	S568P	probably damaging	Het
Slc4a5	A	G	6: 83,276,453 (GRCm39)	I1093V	probably benign	Het
Snx2	G	A	18: 53,343,869 (GRCm39)		probably null	Het

Other mutations in Washc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06