Mutagenetix > Incidental Mutation

Incidental Mutation 'R6645:Washc4'

526080

Institutional Source

Beutler Lab

Gene Symbol

Washc4

Ensembl Gene

ENSMUSG00000034560

Gene Name

WASH complex subunit 4

Synonyms

A230046K03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6645 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83543752-83596473 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 83572195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 555 (R555*)

Ref Sequence

ENSEMBL: ENSMUSP00000039322 (fasta)

Gene Model

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

AlphaFold

Q3UMB9

Predicted Effect

probably null
Transcript: ENSMUST00000038388
AA Change: R555*

SMART Domains

Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: R555*

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,117	D994V	probably benign	Het
Anp32e	T	A	3: 95,937,102	F95I	probably damaging	Het
Arap1	A	G	7: 101,408,111	K628R	possibly damaging	Het
Arid4b	A	T	13: 14,120,152	E6D	probably damaging	Het
Atxn10	G	T	15: 85,376,703		probably null	Het
Ccdc170	A	G	10: 4,560,974	I678V	possibly damaging	Het
Ccdc18	T	A	5: 108,138,930	V110D	probably benign	Het
Cep85l	C	T	10: 53,301,672	E322K	probably benign	Het
Cilp	A	T	9: 65,279,305	Y894F	possibly damaging	Het
Ddx4	A	G	13: 112,641,174	S62P	possibly damaging	Het
Dph7	T	C	2: 24,965,651	V154A	probably benign	Het
Ephb6	T	C	6: 41,617,272	S579P	probably benign	Het
Fam53a	G	T	5: 33,600,784	Q332K	probably benign	Het
Fancm	A	G	12: 65,106,100	D1110G	probably damaging	Het
Fh1	A	T	1: 175,614,876	V136E	possibly damaging	Het
Greb1	G	T	12: 16,698,579	H1132Q	probably benign	Het
Jph1	A	G	1: 17,091,761	S226P	probably damaging	Het
Kbtbd8	C	T	6: 95,126,749	R460*	probably null	Het
Lama5	T	A	2: 180,179,670	N3059Y	probably damaging	Het
Lipc	G	A	9: 70,803,748	T289I	probably damaging	Het
Lrrc2	T	C	9: 110,970,107	W241R	probably damaging	Het
Mfn2	T	A	4: 147,894,612	I88F	probably damaging	Het
Mms19	G	C	19: 41,955,191	N366K	probably benign	Het
Myo15	A	G	11: 60,477,292	T293A	probably benign	Het
Ndfip2	T	A	14: 105,292,273	Y179N	probably damaging	Het
Notch4	A	G	17: 34,587,816	D1909G	probably benign	Het
Obscn	C	T	11: 59,085,262	S2013N	probably damaging	Het
Oca2	G	T	7: 56,314,774	A357S	probably benign	Het
Olfr902	T	C	9: 38,448,923	L17S	probably damaging	Het
Olfr955	T	A	9: 39,470,266	L153F	probably benign	Het
Pde7b	C	A	10: 20,610,566		probably null	Het
Ppef2	T	C	5: 92,230,461	N625S	probably benign	Het
Prom1	A	T	5: 44,047,514	L192Q	probably damaging	Het
Satb2	T	C	1: 56,797,007	I542V	possibly damaging	Het
Sgpp2	C	T	1: 78,360,162	T59M	probably damaging	Het
Skint6	T	C	4: 112,892,038	T782A	possibly damaging	Het
Slc13a4	G	T	6: 35,268,839	Q624K	probably benign	Het
Slc9a3	T	A	13: 74,164,172	H629Q	probably damaging	Het
Slitrk3	G	T	3: 73,049,861	A526E	probably benign	Het
Sptssa	T	C	12: 54,646,490	Y53C	probably damaging	Het
Srsf10	T	C	4: 135,863,563	S159P	possibly damaging	Het
Tbce	T	C	13: 14,005,229	T341A	probably benign	Het
Tdrd6	A	G	17: 43,624,532	L1875P	probably benign	Het
Tkt	G	A	14: 30,570,211	G425R	probably damaging	Het
Tmprss7	T	C	16: 45,690,963	I17M	possibly damaging	Het
Ttc21b	T	C	2: 66,236,377	S311G	probably benign	Het
Ubr5	A	G	15: 38,029,506	Y492H	probably damaging	Het
Ush2a	T	C	1: 188,523,331	I1535T	probably damaging	Het
Vmn2r17	A	T	5: 109,428,381	N373Y	probably damaging	Het
Vmn2r6	A	T	3: 64,556,876	V179E	probably damaging	Het
Vps13b	A	G	15: 35,910,305	E3405G	probably benign	Het
Wac	A	T	18: 7,973,523	Q212H	probably damaging	Het
Zmat4	G	A	8: 23,797,401		probably null	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
R1144:Washc4	UTSW	10	83580330	missense	probably damaging	0.97
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
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

PCR Primer
(F):5'- GAGAAGACACTTTGTTTCCTTTGG -3'
(R):5'- AAGCTCGCTGATAAGATCCAGC -3'

Sequencing Primer
(F):5'- TCCTTTGGAAACTTAACCATGTTAG -3'
(R):5'- GCTGATAAGATCCAGCTTCTTCATG -3'

Posted On

2018-06-22