Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Washc4'

201638

Institutional Source

Beutler Lab

Gene Symbol

Washc4

Ensembl Gene

ENSMUSG00000034560

Gene Name

WASH complex subunit 4

Synonyms

A230046K03Rik

MMRRC Submission

039820-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83543752-83596473 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83579525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 793 (V793A)

Ref Sequence

ENSEMBL: ENSMUSP00000039322 (fasta)

Gene Model

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

AlphaFold

Q3UMB9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038388
AA Change: V793A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: V793A

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,365,951	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115	G121D	probably benign	Het
Ampd1	T	A	3: 103,099,126	I690N	possibly damaging	Het
Amy1	C	A	3: 113,558,165	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,688,560	T78N	probably damaging	Het
Auts2	T	A	5: 131,472,450	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,554,808	D158G	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993		probably null	Het
Chrna5	T	C	9: 55,004,651	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921	G163R	probably damaging	Het
Col5a2	A	G	1: 45,378,305		probably null	Het
Col5a2	T	C	1: 45,394,776	Q759R	probably damaging	Het
Comp	A	G	8: 70,377,146	D340G	probably benign	Het
Cyfip1	T	A	7: 55,926,395	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,038,780	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919	Y478H	probably damaging	Het
Fat3	T	C	9: 16,376,985	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389	A574S	probably damaging	Het
Fsip2	G	T	2: 82,977,562	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584	R404S	probably benign	Het
Gm8773	A	T	5: 5,575,652	Q116L	possibly damaging	Het
Gpd1	T	G	15: 99,723,202	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057		probably benign	Het
Grin3b	T	C	10: 79,973,408	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512		probably null	Het
Itgb8	T	C	12: 119,202,455	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008	L439P	probably damaging	Het
Kif2c	T	A	4: 117,167,361	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,852,074		probably benign	Het
L3mbtl1	A	G	2: 162,974,502	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Myo10	T	G	15: 25,726,525		probably null	Het
Myo1e	T	A	9: 70,338,784	L419Q	probably damaging	Het
Myo6	C	A	9: 80,300,572	H1115Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725	S126C	probably damaging	Het
Olfr1128	A	T	2: 87,544,983	L187H	probably damaging	Het
Olfr130	T	C	17: 38,067,948	I259T	probably damaging	Het
Olfr215	A	C	6: 116,582,697	F83C	probably damaging	Het
Olfr484	A	G	7: 108,124,915	F116S	probably benign	Het
Olfr804	T	C	10: 129,705,607	M243T	possibly damaging	Het
Olfr818	A	T	10: 129,945,582	L160*	probably null	Het
Pdzd7	A	G	19: 45,039,228	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754	Y271N	probably damaging	Het
Polk	T	C	13: 96,496,632	E301G	probably damaging	Het
Prkdc	C	A	16: 15,739,524	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459		probably benign	Het
Spag17	T	A	3: 99,939,356	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488		probably benign	Het
Stil	T	A	4: 115,041,782	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246	Q478*	probably null	Het
Tg	A	T	15: 66,737,548	Q319L	probably benign	Het
Thada	A	G	17: 84,448,033	L243P	probably damaging	Het
Thada	G	T	17: 84,448,034	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,512,364	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600	T821I	probably benign	Het
Wdr35	G	T	12: 8,977,435		probably null	Het
Zfp277	A	G	12: 40,364,085	F254L	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
R1144:Washc4	UTSW	10	83580330	missense	probably damaging	0.97
R1560:Washc4	UTSW	10	83556109	missense	probably damaging	0.99
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
R8194:Washc4	UTSW	10	83580299	missense	possibly damaging	0.51
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
R9532:Washc4	UTSW	10	83581394	splice site	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'- TCTCAAGGAGGTGATTCCGG -3'
(R):5'- AGACGTTCTCATTTACAGCTTTAGC -3'

Sequencing Primer
(F):5'- AGGTGATTCCGGCTGTGTAAG -3'
(R):5'- TTCTAGGGCAGTCAGGACTAC -3'

Posted On

2014-06-23