Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:Washc5'

721868

Institutional Source

Beutler Lab

Gene Symbol

Washc5

Ensembl Gene

ENSMUSG00000022350

Gene Name

WASH complex subunit 5

Synonyms

E430025E21Rik, strumpellin

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59331997-59374167 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59344131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 800 (M800V)

Ref Sequence

ENSEMBL: ENSMUSP00000022976 (fasta)

Gene Model

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

AlphaFold

Q8C2E7

Predicted Effect

probably benign
Transcript: ENSMUST00000022976
AA Change: M800V

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

SMART Domains

Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: M800V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227725
AA Change: M350V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	G	C	4: 42,971,740	V358L	probably benign	Het
4932438A13Rik	T	C	3: 37,012,621	M211T		Het
Abi2	T	A	1: 60,464,604	V356D	probably damaging	Het
Adgrd1	T	C	5: 129,179,637	V690A	possibly damaging	Het
Apba2	T	C	7: 64,743,390	M553T	possibly damaging	Het
Apeh	C	T	9: 108,094,410	V13M	unknown	Het
Apol11b	C	T	15: 77,640,571	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,717,733	T177I	probably damaging	Het
Bub1b	T	C	2: 118,638,403	I883T	probably damaging	Het
C9	T	C	15: 6,459,581	S140P	probably damaging	Het
Cbfa2t2	T	A	2: 154,504,565	I64N	probably benign	Het
Cd180	A	T	13: 102,705,978	I511F	possibly damaging	Het
Cic	T	C	7: 25,272,695	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,807,314		probably null	Het
D5Ertd579e	T	C	5: 36,602,635	T1394A	probably damaging	Het
Dclk1	A	T	3: 55,480,431	E422D	probably benign	Het
Depdc5	A	T	5: 32,867,977	D21V	probably damaging	Het
Dis3l	A	G	9: 64,329,547	F40S	unknown	Het
Duox1	T	C	2: 122,318,490	V82A	probably benign	Het
Dus2	T	C	8: 106,044,875	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,420,835	S326N	probably benign	Het
Fat3	A	C	9: 15,919,199	L153R		Het
Gpx8	C	T	13: 113,045,591	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 88,694,520	D268G	probably benign	Het
Hc	T	C	2: 35,036,347	I342V	probably benign	Het
Hsp90ab1	T	A	17: 45,568,952	D546V	possibly damaging	Het
Ifi206	T	G	1: 173,486,643	D77A		Het
Igfbp1	A	G	11: 7,197,881		probably benign	Het
Kdm3a	T	C	6: 71,607,450	D559G	probably benign	Het
Kif2a	A	G	13: 106,968,738	I565T	probably benign	Het
Krt2	T	C	15: 101,816,489	T229A	probably damaging	Het
Lcmt2	G	A	2: 121,140,041	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,387,254	M241T	probably benign	Het
Mup15	T	C	4: 61,439,638		probably benign	Het
Myo9b	T	C	8: 71,358,985	V1912A	probably benign	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Naip5	T	C	13: 100,223,313	T472A	probably benign	Het
Net1	A	G	13: 3,888,518	F123S	probably benign	Het
Olfr183	A	G	16: 58,999,865	Y60C	probably damaging	Het
Olfr335-ps	T	C	2: 36,301,934	Y132H	probably damaging	Het
Olfr666	C	T	7: 104,893,318	M103I	possibly damaging	Het
Pcdhb13	T	C	18: 37,443,100	F177S	probably damaging	Het
Pclo	T	C	5: 14,857,051		probably null	Het
Perm1	A	G	4: 156,218,582	T528A	probably benign	Het
Pik3c2a	C	T	7: 116,358,704	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,094,992	Q146*	probably null	Het
Psd	A	T	19: 46,320,278	C639S	possibly damaging	Het
Rffl	T	A	11: 82,812,438	T220S	probably benign	Het
Scn2a	A	G	2: 65,730,278	D1284G	probably damaging	Het
Scube1	T	C	15: 83,629,404	Y385C	probably damaging	Het
Sec14l3	A	T	11: 4,076,324	D388V	probably damaging	Het
Slc26a1	G	T	5: 108,671,594	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,685,911	T343A	probably benign	Het
Slc7a4	A	G	16: 17,575,398	V179A		Het
Sox14	T	G	9: 99,875,509	D49A		Het
Timm22	A	G	11: 76,407,370	S56G	probably benign	Het
Tmub2	G	A	11: 102,288,327	W322*	probably null	Het
Tsc22d4	A	G	5: 137,758,166	T8A	probably benign	Het
Ttn	T	C	2: 76,709,308	I34445V	probably benign	Het
Tyms	A	T	5: 30,063,362	Y196*	probably null	Het
Ube2o	G	A	11: 116,543,997	T546M	probably damaging	Het
Umodl1	A	G	17: 30,998,169	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unk	A	T	11: 116,059,209	Q747L	probably damaging	Het
Vmn1r170	A	G	7: 23,606,869	E232G	probably benign	Het
Vps41	A	G	13: 18,829,226	Y338C	possibly damaging	Het
Wt1	T	A	2: 105,163,366	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,510,898	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,668,700	M1001T	possibly damaging	Het
Yeats2	A	T	16: 20,154,152	R19W	probably damaging	Het
Zfp142	T	C	1: 74,576,227	T476A	probably damaging	Het
Zfp229	T	C	17: 21,745,592	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,739,547	F50S	probably damaging	Het
Zfp975	A	T	7: 42,661,989	M400K	probably benign	Het
Zkscan5	A	G	5: 145,207,609	M150V	probably benign	Het
Znfx1	T	A	2: 167,055,955	I350F		Het

Other mutations in Washc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Washc5	APN	15	59337276	missense	probably damaging	0.99
IGL01096:Washc5	APN	15	59350211	splice site	probably benign
IGL01305:Washc5	APN	15	59355839	nonsense	probably null
IGL01707:Washc5	APN	15	59342015	missense	possibly damaging	0.89
IGL01921:Washc5	APN	15	59342109	splice site	probably null
IGL02056:Washc5	APN	15	59350336	missense	possibly damaging	0.63
IGL02145:Washc5	APN	15	59369211	missense	probably benign
IGL02430:Washc5	APN	15	59366291	missense	probably damaging	1.00
IGL02450:Washc5	APN	15	59332317	nonsense	probably null
IGL03238:Washc5	APN	15	59346842	missense	probably damaging	1.00
IGL03351:Washc5	APN	15	59363350	splice site	probably benign
ANU22:Washc5	UTSW	15	59355839	nonsense	probably null
R0004:Washc5	UTSW	15	59367467	missense	probably damaging	1.00
R0004:Washc5	UTSW	15	59367467	missense	probably damaging	1.00
R0100:Washc5	UTSW	15	59344098	missense	possibly damaging	0.83
R0100:Washc5	UTSW	15	59344098	missense	possibly damaging	0.83
R0179:Washc5	UTSW	15	59352530	missense	probably benign	0.01
R0265:Washc5	UTSW	15	59338960	missense	probably benign	0.43
R0315:Washc5	UTSW	15	59341976	missense	probably damaging	1.00
R0545:Washc5	UTSW	15	59342093	missense	possibly damaging	0.50
R0611:Washc5	UTSW	15	59341158	missense	probably damaging	0.99
R0636:Washc5	UTSW	15	59359409	missense	probably benign	0.01
R1006:Washc5	UTSW	15	59369186	missense	probably benign	0.21
R1006:Washc5	UTSW	15	59369187	missense	probably benign	0.06
R1237:Washc5	UTSW	15	59338908	splice site	probably benign
R1835:Washc5	UTSW	15	59359340	missense	possibly damaging	0.86
R1888:Washc5	UTSW	15	59359325	missense	probably damaging	0.99
R1888:Washc5	UTSW	15	59359325	missense	probably damaging	0.99
R2005:Washc5	UTSW	15	59341155	missense	possibly damaging	0.89
R2006:Washc5	UTSW	15	59341155	missense	possibly damaging	0.89
R2060:Washc5	UTSW	15	59350408	missense	probably damaging	1.00
R2134:Washc5	UTSW	15	59369234	missense	probably damaging	1.00
R2139:Washc5	UTSW	15	59350142	missense	probably damaging	1.00
R2177:Washc5	UTSW	15	59363269	nonsense	probably null
R2975:Washc5	UTSW	15	59345358	missense	probably damaging	1.00
R4088:Washc5	UTSW	15	59339862	missense	probably damaging	1.00
R4824:Washc5	UTSW	15	59333636	nonsense	probably null
R4843:Washc5	UTSW	15	59350371	missense	possibly damaging	0.95
R4991:Washc5	UTSW	15	59344080	missense	probably damaging	1.00
R4996:Washc5	UTSW	15	59333635	missense	probably benign
R5103:Washc5	UTSW	15	59350169	missense	probably damaging	1.00
R5312:Washc5	UTSW	15	59345528	splice site	probably null
R5591:Washc5	UTSW	15	59369163	missense	probably damaging	1.00
R6073:Washc5	UTSW	15	59335170	missense	possibly damaging	0.90
R6123:Washc5	UTSW	15	59335110	missense	probably damaging	1.00
R6156:Washc5	UTSW	15	59345399	missense	probably damaging	1.00
R6292:Washc5	UTSW	15	59355934	missense	probably damaging	1.00
R6297:Washc5	UTSW	15	59344046	missense	possibly damaging	0.61
R6374:Washc5	UTSW	15	59337195	missense	probably benign	0.14
R6659:Washc5	UTSW	15	59340890	critical splice donor site	probably null
R6880:Washc5	UTSW	15	59350172	missense	probably benign	0.00
R7146:Washc5	UTSW	15	59352501	nonsense	probably null
R7330:Washc5	UTSW	15	59333667	missense	probably benign	0.02
R7430:Washc5	UTSW	15	59369913	nonsense	probably null
R7490:Washc5	UTSW	15	59337204	missense	probably benign	0.18
R7532:Washc5	UTSW	15	59367411	missense	possibly damaging	0.46
R7560:Washc5	UTSW	15	59366192	missense	probably damaging	0.97
R7803:Washc5	UTSW	15	59368459	missense	probably damaging	0.98
R8242:Washc5	UTSW	15	59344122	missense	probably damaging	1.00
R8841:Washc5	UTSW	15	59335122	missense	probably damaging	1.00
R9022:Washc5	UTSW	15	59345384	missense	possibly damaging	0.95
R9022:Washc5	UTSW	15	59361220	missense	probably damaging	1.00
R9123:Washc5	UTSW	15	59337285	missense	probably damaging	1.00
R9125:Washc5	UTSW	15	59337285	missense	probably damaging	1.00
R9310:Washc5	UTSW	15	59346218	missense	possibly damaging	0.89
R9423:Washc5	UTSW	15	59355886	missense	probably benign
R9556:Washc5	UTSW	15	59346867	missense	possibly damaging	0.95
R9668:Washc5	UTSW	15	59346213	critical splice donor site	probably null
R9691:Washc5	UTSW	15	59346857	missense	probably damaging	1.00
R9718:Washc5	UTSW	15	59345343	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ACATCAGTGACACAGGCATG -3'
(R):5'- TGTCCATCTCGACTCACAAGAC -3'

Sequencing Primer
(F):5'- TGACACAGGCATGGGCGTC -3'
(R):5'- GATTACAGGCCTGCATCACTG -3'

Posted On

2022-08-09