Mutagenetix > Incidental Mutation

Incidental Mutation 'R7146:Washc5'

553835

Institutional Source

Beutler Lab

Gene Symbol

Washc5

Ensembl Gene

ENSMUSG00000022350

Gene Name

WASH complex subunit 5

Synonyms

strumpellin, E430025E21Rik

MMRRC Submission

045251-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7146 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59203846-59246016 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 59224350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 470 (E470*)

Ref Sequence

ENSEMBL: ENSMUSP00000022976 (fasta)

Gene Model

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

AlphaFold

Q8C2E7

Predicted Effect

probably null
Transcript: ENSMUST00000022976
AA Change: E470*

SMART Domains

Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: E470*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227725

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

95% (99/104)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,854,520 (GRCm39)	I895F	probably benign	Het
Abca16	A	G	7: 120,126,974 (GRCm39)	N1222D	possibly damaging	Het
Abcc4	A	T	14: 118,852,593 (GRCm39)	Y499N	probably damaging	Het
Adgrg7	A	C	16: 56,550,605 (GRCm39)	C702W	probably damaging	Het
Adk	C	A	14: 21,376,682 (GRCm39)	P27H		Het
Ankrd13a	T	C	5: 114,913,293 (GRCm39)	S2P	probably damaging	Het
Ano1	T	C	7: 144,209,393 (GRCm39)	H269R	probably benign	Het
Aox3	T	A	1: 58,197,688 (GRCm39)		probably null	Het
Asl	G	A	5: 130,053,290 (GRCm39)		probably benign	Het
Asxl2	A	T	12: 3,507,066 (GRCm39)	D86V	probably damaging	Het
Ate1	A	T	7: 130,083,508 (GRCm39)		probably null	Het
Bach2	A	G	4: 32,562,670 (GRCm39)	D379G	probably damaging	Het
Bdkrb1	T	A	12: 105,571,142 (GRCm39)	L236Q	probably damaging	Het
Cacna2d3	T	C	14: 29,443,654 (GRCm39)	Y24C	unknown	Het
Cage1	G	T	13: 38,207,025 (GRCm39)	N273K	probably benign	Het
Ccdc51	T	A	9: 108,920,848 (GRCm39)	I245N	probably damaging	Het
Cep152	T	C	2: 125,456,325 (GRCm39)	I229V	probably benign	Het
Chst4	T	A	8: 110,757,363 (GRCm39)	S167C	probably damaging	Het
Cntnap4	A	T	8: 113,537,268 (GRCm39)	Y713F	probably damaging	Het
Cntnap5b	G	A	1: 99,978,519 (GRCm39)		probably null	Het
Cog8	G	T	8: 107,779,005 (GRCm39)	T424K	possibly damaging	Het
Cop1	T	G	1: 159,071,922 (GRCm39)		probably null	Het
Cyp2j6	A	G	4: 96,434,019 (GRCm39)	I97T	probably damaging	Het
D430041D05Rik	T	C	2: 104,088,698 (GRCm39)	T131A	probably benign	Het
Dnah17	T	C	11: 117,972,936 (GRCm39)	D1999G	probably damaging	Het
Dnah8	A	G	17: 30,863,591 (GRCm39)	D250G	probably benign	Het
Dnah8	T	C	17: 30,988,618 (GRCm39)	V3196A	possibly damaging	Het
Dscam	A	T	16: 96,631,117 (GRCm39)	Y299*	probably null	Het
Efcab3	A	G	11: 104,858,578 (GRCm39)	N3879S	unknown	Het
Efcab3	A	C	11: 104,913,764 (GRCm39)	D4594A	probably benign	Het
Ephb1	A	G	9: 101,841,157 (GRCm39)	S774P	probably damaging	Het
Fat1	G	A	8: 45,403,962 (GRCm39)	V238I	probably benign	Het
Fermt1	C	T	2: 132,776,785 (GRCm39)	M234I	probably benign	Het
Fmnl2	C	T	2: 52,958,552 (GRCm39)	S212L		Het
Frem1	T	C	4: 82,840,532 (GRCm39)	N1798S	possibly damaging	Het
Gabrd	T	A	4: 155,469,863 (GRCm39)	M449L	probably benign	Het
Gad1	T	C	2: 70,417,706 (GRCm39)	F302L	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA	GGGCCTGTAGACAGTAGGTGCTCA	18: 80,132,697 (GRCm39)		probably benign	Het
Gnb3	C	T	6: 124,813,887 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,271,993 (GRCm39)	M642K	possibly damaging	Het
Hps3	A	T	3: 20,063,050 (GRCm39)	W838R	probably damaging	Het
Ide	A	T	19: 37,273,343 (GRCm39)	W527R		Het
Ighe	A	T	12: 113,235,975 (GRCm39)	I117N		Het
Ighv1-50	T	C	12: 115,083,396 (GRCm39)	E108G	probably benign	Het
Ivl	G	A	3: 92,479,538 (GRCm39)	P176S	probably damaging	Het
Lamb2	T	A	9: 108,361,283 (GRCm39)	L605Q	possibly damaging	Het
Lgi3	G	A	14: 70,770,832 (GRCm39)	R157H	probably damaging	Het
Lrp1b	G	T	2: 41,266,006 (GRCm39)	C1053*	probably null	Het
Mcpt9	A	T	14: 56,264,445 (GRCm39)	S217T	probably damaging	Het
Mgat4c	T	G	10: 102,224,357 (GRCm39)	N190K	probably damaging	Het
Mknk1	T	A	4: 115,721,789 (GRCm39)	V111D	probably damaging	Het
Mmp11	T	C	10: 75,764,280 (GRCm39)	T62A	probably benign	Het
Mmp1b	C	A	9: 7,385,014 (GRCm39)	V212F	probably damaging	Het
Mmp7	A	G	9: 7,697,587 (GRCm39)		probably null	Het
Muc5b	C	T	7: 141,417,704 (GRCm39)	T3550M	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nphp3	A	T	9: 103,882,036 (GRCm39)	K169*	probably null	Het
Npy6r	G	T	18: 44,408,788 (GRCm39)	V70F	probably benign	Het
Nsun2	T	A	13: 69,774,672 (GRCm39)		probably null	Het
Oplah	T	A	15: 76,186,860 (GRCm39)	I652F	probably benign	Het
Pcdh18	T	C	3: 49,710,271 (GRCm39)	N348S	probably damaging	Het
Pcdhb5	T	A	18: 37,454,409 (GRCm39)	V263D	probably damaging	Het
Pcdhga1	C	A	18: 37,795,164 (GRCm39)	T56N	probably benign	Het
Pdk4	A	G	6: 5,491,068 (GRCm39)		probably null	Het
Pfkp	C	A	13: 6,652,817 (GRCm39)	V434F	probably benign	Het
Phospho1	G	A	11: 95,721,732 (GRCm39)	R134H	probably damaging	Het
Polg2	G	T	11: 106,663,572 (GRCm39)	Q374K	probably benign	Het
Ptpra	T	C	2: 130,379,571 (GRCm39)		probably null	Het
Rassf3	C	T	10: 121,252,052 (GRCm39)	E120K	probably benign	Het
Reln	A	T	5: 22,311,095 (GRCm39)	S273T	probably damaging	Het
Scarb1	C	T	5: 125,361,089 (GRCm39)	A133T	probably benign	Het
Scn3a	T	A	2: 65,313,486 (GRCm39)	K1142N	probably damaging	Het
Sema3c	G	A	5: 17,899,701 (GRCm39)	V398I	probably benign	Het
Serpine1	C	A	5: 137,099,918 (GRCm39)	Q80H	probably damaging	Het
Sh3gl1	G	A	17: 56,324,646 (GRCm39)	T334M	probably damaging	Het
Smg7	T	C	1: 152,737,576 (GRCm39)	N122D	probably benign	Het
Speer4b	T	C	5: 27,703,708 (GRCm39)	I144V	probably benign	Het
Spire2	T	A	8: 124,095,989 (GRCm39)	D671E	probably benign	Het
Sspo	A	T	6: 48,478,029 (GRCm39)	H5144L	probably benign	Het
Sstr2	A	T	11: 113,516,179 (GRCm39)	Q366L	probably damaging	Het
Ssu72	T	C	4: 155,815,850 (GRCm39)	F98S	probably damaging	Het
Syde2	C	T	3: 145,712,870 (GRCm39)	Q1003*	probably null	Het
Tapbp	G	A	17: 34,144,461 (GRCm39)	A186T	possibly damaging	Het
Tcf12	T	A	9: 71,790,385 (GRCm39)		probably null	Het
Tnfrsf22	A	T	7: 143,194,556 (GRCm39)	C124S	probably damaging	Het
Txlnb	A	T	10: 17,703,546 (GRCm39)	T235S	possibly damaging	Het
Uaca	T	C	9: 60,777,695 (GRCm39)	L694P	probably damaging	Het
Unc13a	T	A	8: 72,083,197 (GRCm39)	N1620Y	probably damaging	Het
Vmn2r10	C	T	5: 109,151,200 (GRCm39)	C138Y	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r28	T	A	7: 5,484,495 (GRCm39)	E568D	probably benign	Het
Vmn2r57	A	T	7: 41,097,895 (GRCm39)	H57Q	possibly damaging	Het
Vwa5b1	A	G	4: 138,308,923 (GRCm39)	S756P	probably benign	Het
Xpot	A	T	10: 121,442,678 (GRCm39)	V508D	probably damaging	Het
Zfp616	A	T	11: 73,976,087 (GRCm39)	K785N	possibly damaging	Het
Zfp653	T	C	9: 21,977,195 (GRCm39)	N119D	probably damaging	Het
Zfp729b	A	G	13: 67,741,495 (GRCm39)	S257P	probably damaging	Het
Zfp82	T	A	7: 29,755,592 (GRCm39)	T497S	probably benign	Het
Znrf4	T	G	17: 56,819,305 (GRCm39)	M1L	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
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
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'- GGGGTGCCATTAATACTTATGACTTG -3'
(R):5'- TCTGCTACACGCTCTTTAAAGG -3'

Sequencing Primer
(F):5'- TCATCAGCCTGACTGGGTTAGAAC -3'
(R):5'- GCTACACGCTCTTTAAAGGAAATTGG -3'

Posted On

2019-05-15