Mutagenetix > Incidental Mutation

Incidental Mutation 'R1144:Washc4'

102294

Institutional Source

Beutler Lab

Gene Symbol

Washc4

Ensembl Gene

ENSMUSG00000034560

Gene Name

WASH complex subunit 4

Synonyms

A230046K03Rik

MMRRC Submission

039217-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R1144 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83543752-83596473 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83580330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 828 (R828Q)

Ref Sequence

ENSEMBL: ENSMUSP00000039322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038388] [ENSMUST00000217842]

AlphaFold

Q3UMB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000038388
AA Change: R828Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: R828Q

Domain	Start	End	E-Value	Type
Pfam:WASH-7_N	32	604	4.8e-245	PFAM
Pfam:WASH-7_mid	605	949	7.9e-176	PFAM
low complexity region	954	965	N/A	INTRINSIC
Pfam:WASH-7_C	966	1135	9.1e-76	PFAM
low complexity region	1138	1156	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218570

Meta Mutation Damage Score

0.3576

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 120,360,860		probably benign	Het
Abcc5	A	T	16: 20,422,438		probably benign	Het
Acsl5	A	C	19: 55,291,843	D516A	probably damaging	Het
Adcy1	G	A	11: 7,137,400	A425T	probably damaging	Het
Aebp1	A	G	11: 5,868,475	T107A	probably benign	Het
Arhgef33	T	C	17: 80,355,044	S219P	probably benign	Het
Atm	T	G	9: 53,511,698		probably benign	Het
C1ql2	A	C	1: 120,342,537	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,322,597		probably null	Het
Cmbl	A	G	15: 31,581,874	N6D	probably benign	Het
Cntn3	A	G	6: 102,242,126	V511A	possibly damaging	Het
Coq9	C	A	8: 94,842,623	R28S	probably benign	Het
Creld1	T	C	6: 113,483,961	F20S	probably benign	Het
Dcstamp	A	G	15: 39,760,368	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,154,250	I244K	probably benign	Het
Dnhd1	G	A	7: 105,713,031	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 78,051,905	C110S	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fgfr1	T	G	8: 25,558,143	V172G	probably damaging	Het
Frem3	C	A	8: 80,611,884	Q269K	probably benign	Het
Frmd6	C	A	12: 70,877,168	H67N	probably damaging	Het
Fry	A	G	5: 150,418,464	T1532A	possibly damaging	Het
Git2	G	T	5: 114,753,314	S243R	probably benign	Het
Grid1	A	G	14: 35,562,676		probably benign	Het
Grp	A	G	18: 65,879,970	D69G	probably damaging	Het
Hmbox1	A	T	14: 64,825,683	L347Q	probably damaging	Het
Hrasls5	A	G	19: 7,613,330	D74G	probably benign	Het
Hsh2d	C	T	8: 72,193,592		probably benign	Het
Itpr3	G	A	17: 27,114,923	S2018N	probably benign	Het
Kif13b	T	A	14: 64,714,117	V69D	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lmcd1	T	A	6: 112,310,751		probably benign	Het
Megf9	C	A	4: 70,534,624	A67S	probably benign	Het
Myo5b	G	A	18: 74,625,587	R213H	probably damaging	Het
Myo5c	T	A	9: 75,286,448	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,481,678		probably benign	Het
Ntrk1	G	A	3: 87,781,542	T568I	probably damaging	Het
Pcmtd1	A	G	1: 7,120,481	H58R	probably damaging	Het
Plxna4	A	T	6: 32,197,156	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,941,278	D483G	probably benign	Het
Prdm15	G	A	16: 97,808,708	R579C	probably damaging	Het
Prickle1	T	A	15: 93,512,461	R41W	probably damaging	Het
Rbm19	A	G	5: 120,123,016	D235G	possibly damaging	Het
Smco2	A	G	6: 146,871,140		probably benign	Het
Sned1	G	C	1: 93,280,576	G785R	probably damaging	Het
Stat4	A	G	1: 52,084,129		probably benign	Het
Syne2	T	A	12: 75,966,524	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,236,571	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,027		probably benign	Het
Tmem63b	T	A	17: 45,666,427	K383N	probably benign	Het
Trp53rka	C	A	2: 165,493,041		probably benign	Het
Trub1	G	A	19: 57,485,131	V207M	probably benign	Het
Ulk2	A	T	11: 61,800,060	C551S	possibly damaging	Het
Urb1	A	T	16: 90,776,318		probably null	Het
Vmn1r219	C	A	13: 23,163,213	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 64,090,120	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,476,229		probably benign	Het
Wars	A	T	12: 108,888,365	L41*	probably null	Het
Washc2	G	A	6: 116,224,534	E64K	probably damaging	Het
Wdr59	A	T	8: 111,486,944	M313K	probably benign	Het
Wscd2	G	A	5: 113,561,090		probably null	Het
Zdhhc20	A	C	14: 57,856,678	L176V	probably benign	Het

Other mutations in Washc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Washc4	APN	10	83550883	missense	probably benign	0.07
IGL01370:Washc4	APN	10	83558830	missense	probably damaging	0.98
IGL01524:Washc4	APN	10	83576132	missense	probably benign	0.37
IGL01682:Washc4	APN	10	83580306	missense	possibly damaging	0.93
IGL01973:Washc4	APN	10	83556109	missense	probably damaging	0.99
IGL02002:Washc4	APN	10	83579543	missense	possibly damaging	0.95
IGL02020:Washc4	APN	10	83564472	missense	probably damaging	0.97
IGL02230:Washc4	APN	10	83581369	missense	probably benign	0.00
IGL02421:Washc4	APN	10	83579550	missense	probably damaging	0.98
IGL02514:Washc4	APN	10	83570083	missense	probably damaging	0.98
IGL02619:Washc4	APN	10	83558853	missense	possibly damaging	0.84
IGL02852:Washc4	APN	10	83583309	missense	possibly damaging	0.95
IGL02870:Washc4	APN	10	83585876	missense	probably benign
IGL03181:Washc4	APN	10	83591019	missense	probably damaging	1.00
IGL03247:Washc4	APN	10	83564463	missense	probably benign	0.02
R0458:Washc4	UTSW	10	83546799	missense	possibly damaging	0.70
R0462:Washc4	UTSW	10	83556913	missense	probably benign	0.00
R0471:Washc4	UTSW	10	83558734	splice site	probably benign
R1560:Washc4	UTSW	10	83556109	missense	probably damaging	0.99
R1789:Washc4	UTSW	10	83579525	missense	possibly damaging	0.92
R1819:Washc4	UTSW	10	83550884	missense	probably benign	0.08
R2421:Washc4	UTSW	10	83579521	missense	probably damaging	0.97
R2882:Washc4	UTSW	10	83579501	missense	possibly damaging	0.93
R2902:Washc4	UTSW	10	83554763	nonsense	probably null
R3436:Washc4	UTSW	10	83570002	missense	probably benign	0.33
R3437:Washc4	UTSW	10	83570002	missense	probably benign	0.33
R3552:Washc4	UTSW	10	83546856	missense	probably benign	0.45
R4646:Washc4	UTSW	10	83574543	missense	possibly damaging	0.71
R4647:Washc4	UTSW	10	83574543	missense	possibly damaging	0.71
R4648:Washc4	UTSW	10	83574543	missense	possibly damaging	0.71
R4732:Washc4	UTSW	10	83574479	missense	probably benign
R4733:Washc4	UTSW	10	83574479	missense	probably benign
R4750:Washc4	UTSW	10	83591052	missense	probably damaging	0.99
R4835:Washc4	UTSW	10	83579512	missense	possibly damaging	0.93
R5024:Washc4	UTSW	10	83583336	missense	possibly damaging	0.71
R5055:Washc4	UTSW	10	83556907	missense	probably damaging	0.99
R5414:Washc4	UTSW	10	83556103	missense	possibly damaging	0.95
R5423:Washc4	UTSW	10	83579554	missense	possibly damaging	0.71
R5428:Washc4	UTSW	10	83574522	missense	probably benign	0.00
R5506:Washc4	UTSW	10	83581337	missense	probably damaging	0.97
R5540:Washc4	UTSW	10	83573793	missense	probably damaging	0.99
R5667:Washc4	UTSW	10	83570028	missense	probably damaging	0.97
R5671:Washc4	UTSW	10	83570028	missense	probably damaging	0.97
R5777:Washc4	UTSW	10	83555605	missense	probably damaging	1.00
R6369:Washc4	UTSW	10	83574444	missense	probably damaging	1.00
R6370:Washc4	UTSW	10	83571362	missense	possibly damaging	0.85
R6500:Washc4	UTSW	10	83558823	missense	probably damaging	1.00
R6645:Washc4	UTSW	10	83572195	nonsense	probably null
R6657:Washc4	UTSW	10	83558618	missense	possibly damaging	0.92
R6829:Washc4	UTSW	10	83560516	missense	probably damaging	0.97
R6862:Washc4	UTSW	10	83558893	missense	possibly damaging	0.92
R6899:Washc4	UTSW	10	83576055	missense	probably benign	0.07
R7144:Washc4	UTSW	10	83573774	critical splice acceptor site	probably null
R7163:Washc4	UTSW	10	83591033	missense	probably damaging	0.99
R7477:Washc4	UTSW	10	83574443	missense	probably damaging	0.99
R7900:Washc4	UTSW	10	83573773	splice site	probably null
R8491:Washc4	UTSW	10	83576123	missense	probably benign	0.24
R8791:Washc4	UTSW	10	83550884	missense	probably benign	0.08
R8804:Washc4	UTSW	10	83572151	missense	probably damaging	0.99
R8896:Washc4	UTSW	10	83570018	missense	probably damaging	0.98
R8961:Washc4	UTSW	10	83573793	missense	probably damaging	0.99
R9084:Washc4	UTSW	10	83586635	missense	possibly damaging	0.92
R9452:Washc4	UTSW	10	83560523	missense	probably benign
X0017:Washc4	UTSW	10	83591143	missense	probably damaging	1.00
X0066:Washc4	UTSW	10	83558829	frame shift	probably null
Z1088:Washc4	UTSW	10	83576741	missense	probably benign	0.07

Predicted Primers

Posted On

2014-01-15