Mutagenetix > Incidental Mutation

Incidental Mutation 'R4824:Washc5'

374264

Institutional Source

Beutler Lab

Gene Symbol

Washc5

Ensembl Gene

ENSMUSG00000022350

Gene Name

WASH complex subunit 5

Synonyms

strumpellin, E430025E21Rik

MMRRC Submission

042440-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59203846-59246016 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 59205485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 685 (Y685*)

Ref Sequence

ENSEMBL: ENSMUSP00000154441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022976] [ENSMUST00000022977] [ENSMUST00000100640] [ENSMUST00000227725]

AlphaFold

Q8C2E7

Predicted Effect

probably null
Transcript: ENSMUST00000022976
AA Change: Y1135*

SMART Domains

Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: Y1135*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022977

SMART Domains

Protein: ENSMUSP00000022977
Gene: ENSMUSG00000022351

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	81	95	N/A	INTRINSIC
Pfam:FAD_binding_3	121	434	1.4e-22	PFAM
Pfam:SE	275	546	1.3e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100640

SMART Domains

Protein: ENSMUSP00000098205
Gene: ENSMUSG00000022351

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	81	95	N/A	INTRINSIC
Pfam:FAD_binding_3	121	344	3.4e-18	PFAM
Pfam:SE	275	370	3.5e-34	PFAM
Pfam:SE	365	514	5.7e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162142

Predicted Effect

probably null
Transcript: ENSMUST00000227725
AA Change: Y685*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (123/126)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,437 (GRCm39)	T209A	probably benign	Het
1700086D15Rik	T	C	11: 65,043,441 (GRCm39)		probably benign	Het
A130010J15Rik	G	A	1: 192,856,965 (GRCm39)	V106I	probably benign	Het
Abca16	C	A	7: 120,074,702 (GRCm39)	N580K	possibly damaging	Het
Actrt2	A	T	4: 154,751,344 (GRCm39)	F264Y	probably damaging	Het
Adh4	G	A	3: 138,134,807 (GRCm39)	S327N	possibly damaging	Het
Alkbh5	T	C	11: 60,444,697 (GRCm39)		probably null	Het
Anapc1	T	A	2: 128,470,610 (GRCm39)	T1507S	possibly damaging	Het
Anapc2	A	G	2: 25,167,764 (GRCm39)	R444G	probably damaging	Het
Apoh	G	T	11: 108,305,087 (GRCm39)	W335L	probably benign	Het
B4galt7	A	T	13: 55,752,162 (GRCm39)	H71L	possibly damaging	Het
Bicd2	A	G	13: 49,532,488 (GRCm39)	E358G	probably damaging	Het
Bmper	T	A	9: 23,134,956 (GRCm39)	V7D	possibly damaging	Het
Brca2	T	C	5: 150,463,200 (GRCm39)	F988S	probably damaging	Het
Brix1	A	G	15: 10,485,828 (GRCm39)	V49A	possibly damaging	Het
Brpf3	T	C	17: 29,025,460 (GRCm39)	S178P	probably benign	Het
Btaf1	A	G	19: 36,958,448 (GRCm39)	Y655C	possibly damaging	Het
C1rl	C	G	6: 124,486,040 (GRCm39)	Y470*	probably null	Het
Cacnb4	A	G	2: 52,565,822 (GRCm39)	V21A	probably benign	Het
Caskin1	C	A	17: 24,720,103 (GRCm39)	P437T	probably benign	Het
Casz1	C	A	4: 149,029,028 (GRCm39)	P1158T	probably damaging	Het
Ccdc141	T	A	2: 76,954,680 (GRCm39)	Q189L	probably damaging	Het
Ccr3	T	C	9: 123,828,809 (GRCm39)	V48A	probably damaging	Het
Cebpd	G	A	16: 15,705,978 (GRCm39)	G264S	probably benign	Het
Cert1	C	T	13: 96,752,995 (GRCm39)	P350S	probably benign	Het
Cfap20dc	A	T	14: 8,665,997 (GRCm38)	M1K	probably null	Het
Chd1	C	A	17: 15,953,386 (GRCm39)	S440R	probably damaging	Het
Clip1	T	A	5: 123,769,086 (GRCm39)	E504D	probably damaging	Het
Cmya5	T	C	13: 93,230,082 (GRCm39)	R1669G	probably benign	Het
Col11a2	T	A	17: 34,269,937 (GRCm39)	F456I	probably damaging	Het
Ctnna2	A	T	6: 76,957,764 (GRCm39)	M130K	probably damaging	Het
Elmo2	A	T	2: 165,133,922 (GRCm39)		probably benign	Het
F11	T	C	8: 45,708,379 (GRCm39)	D27G	probably damaging	Het
Faap100	A	T	11: 120,266,412 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,442,151 (GRCm39)	E1151G	probably damaging	Het
Fbll1	T	A	11: 35,688,652 (GRCm39)	I204F	probably damaging	Het
Gle1	T	A	2: 29,830,215 (GRCm39)	V257D	possibly damaging	Het
Hoxc9	T	A	15: 102,890,225 (GRCm39)	C47*	probably null	Het
Hsd17b6	A	G	10: 127,829,524 (GRCm39)	V226A	probably benign	Het
Hsd17b7	C	T	1: 169,788,764 (GRCm39)	R151Q	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ido2	A	G	8: 25,023,875 (GRCm39)	I321T	probably benign	Het
Irf2bp2	T	C	8: 127,318,172 (GRCm39)	T465A	probably benign	Het
Kdm2a	A	G	19: 4,412,815 (GRCm39)	M34T	probably damaging	Het
Klhl6	C	T	16: 19,775,778 (GRCm39)	R260H	probably damaging	Het
Kntc1	T	A	5: 123,928,196 (GRCm39)	L1231*	probably null	Het
Lca5l	A	C	16: 95,963,229 (GRCm39)	Y412*	probably null	Het
Lipt1	T	C	1: 37,914,513 (GRCm39)	S190P	possibly damaging	Het
Ly6f	T	A	15: 75,143,569 (GRCm39)	V92D	probably damaging	Het
Matn4	T	A	2: 164,235,151 (GRCm39)	M433L	probably benign	Het
Mbtd1	C	A	11: 93,816,528 (GRCm39)	P370T	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,417,922 (GRCm39)	C3623S	probably damaging	Het
Myt1l	C	A	12: 29,899,399 (GRCm39)	H134N	probably benign	Het
Nav2	A	T	7: 49,058,749 (GRCm39)		probably benign	Het
Ndufaf8	T	C	11: 119,989,992 (GRCm39)	C35R	probably damaging	Het
Neb	G	A	2: 52,094,891 (GRCm39)	T5130I	possibly damaging	Het
Nlrp9c	T	C	7: 26,079,989 (GRCm39)	N624S	possibly damaging	Het
Nr0b2	C	A	4: 133,283,334 (GRCm39)	H190Q	probably damaging	Het
Nrg4	A	G	9: 55,156,405 (GRCm39)		probably benign	Het
Nup88	A	T	11: 70,852,450 (GRCm39)	V215E	probably benign	Het
Oas2	T	G	5: 120,876,411 (GRCm39)	T511P	probably benign	Het
Or1e25	A	G	11: 73,493,426 (GRCm39)	T7A	possibly damaging	Het
Or2t6	A	G	14: 14,175,885 (GRCm38)	S66P	probably damaging	Het
Or5d14	A	C	2: 87,880,432 (GRCm39)	F179V	probably damaging	Het
Or5w8	T	C	2: 87,687,621 (GRCm39)	V34A	probably benign	Het
Or8g26	A	G	9: 39,095,501 (GRCm39)	N9S	probably benign	Het
Or9q1	A	C	19: 13,805,718 (GRCm39)	L14R	probably damaging	Het
Pcdhgb2	T	A	18: 37,823,502 (GRCm39)	N164K	probably damaging	Het
Pde4d	C	G	13: 109,253,400 (GRCm39)	P76A	probably benign	Het
Phlda1	T	C	10: 111,343,516 (GRCm39)		probably benign	Het
Plekhh1	A	G	12: 79,101,577 (GRCm39)	T216A	probably benign	Het
Plppr3	T	A	10: 79,701,507 (GRCm39)	E445V	possibly damaging	Het
Prom1	A	G	5: 44,191,732 (GRCm39)	V337A	probably damaging	Het
Prr14l	T	C	5: 33,001,743 (GRCm39)		probably benign	Het
Psmd1	A	G	1: 86,064,820 (GRCm39)	I951V	probably benign	Het
Rab35	T	G	5: 115,781,454 (GRCm39)	I85M	possibly damaging	Het
Rad9a	A	T	19: 4,250,536 (GRCm39)	S93T	probably benign	Het
Ric1	G	A	19: 29,563,242 (GRCm39)	C555Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror2	T	A	13: 53,264,719 (GRCm39)	Q791L	probably benign	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Sdr16c5	C	T	4: 4,016,216 (GRCm39)	W70*	probably null	Het
Senp3	A	G	11: 69,568,821 (GRCm39)	V408A	probably benign	Het
Sh2d4b	C	A	14: 40,562,301 (GRCm39)	W288L	probably benign	Het
Slc38a9	A	T	13: 112,859,832 (GRCm39)	D422V	probably damaging	Het
Slc4a2	T	C	5: 24,645,141 (GRCm39)	F1104L	probably damaging	Het
Slc4a3	A	G	1: 75,527,267 (GRCm39)	K113E	possibly damaging	Het
Spata3	G	A	1: 85,952,048 (GRCm39)		probably null	Het
Spata31d1d	A	T	13: 59,877,055 (GRCm39)	V160E	possibly damaging	Het
Sprr2f	A	G	3: 92,273,203 (GRCm39)	M1V	probably null	Het
Sptbn1	A	G	11: 30,068,295 (GRCm39)	V1733A	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tardbp	A	G	4: 148,702,050 (GRCm39)	I295T	probably benign	Het
Tmem212	A	G	3: 27,939,157 (GRCm39)	S110P	probably damaging	Het
Tnc	G	A	4: 63,935,857 (GRCm39)	Q360*	probably null	Het
Tnrc6c	C	A	11: 117,613,731 (GRCm39)	Q630K	probably damaging	Het
Ttc19	G	A	11: 62,199,922 (GRCm39)	R235H	probably benign	Het
Ube3b	T	A	5: 114,553,787 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,062 (GRCm39)		probably null	Het
Vmn2r92	T	A	17: 18,372,183 (GRCm39)		probably benign	Het
Wdr93	T	A	7: 79,399,817 (GRCm39)	Y135*	probably null	Het
Wdr95	T	A	5: 149,518,797 (GRCm39)	I546K	probably damaging	Het
Zbtb38	T	A	9: 96,570,254 (GRCm39)	T277S	probably benign	Het
Zfp13	T	C	17: 23,795,797 (GRCm39)	D258G	possibly damaging	Het
Zfp397	T	A	18: 24,093,249 (GRCm39)	S245T	probably benign	Het
Zfp646	T	C	7: 127,482,907 (GRCm39)	Y1695H	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
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'- CTTCTGAACACAACAGTATCAAGG -3'
(R):5'- TAGGAATCAAGAGGGTGCCC -3'

Sequencing Primer
(F):5'- AAAGGGTTTCTCTGTGTAGCCC -3'
(R):5'- GCCCTGTGGGTTTGTTAGAC -3'

Posted On

2016-03-01