Mutagenetix > Incidental Mutation

Incidental Mutation 'R4648:Washc4'

350504

Institutional Source

Beutler Lab

Gene Symbol

Washc4

Ensembl Gene

ENSMUSG00000034560

Gene Name

WASH complex subunit 4

Synonyms

A230046K03Rik

MMRRC Submission

041909-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R4648 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83379616-83432337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83410407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 665 (M665K)

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: M665K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: M665K

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
2310079G19Rik	T	C	16: 88,424,255 (GRCm39)	S79G	probably benign	Het
4930568D16Rik	T	A	2: 35,244,458 (GRCm39)	Y298F	probably damaging	Het
Alpk2	A	G	18: 65,482,953 (GRCm39)	F352L	probably damaging	Het
Angpt1	T	A	15: 42,539,580 (GRCm39)	Y93F	probably benign	Het
Ankrd33b	T	C	15: 31,325,170 (GRCm39)	*129W	probably null	Het
Atp5pf	T	C	16: 84,625,343 (GRCm39)	M87V	probably benign	Het
Atp8b3	A	G	10: 80,361,457 (GRCm39)	S822P	possibly damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bbs2	A	T	8: 94,807,507 (GRCm39)	V429E	probably damaging	Het
Bccip	C	T	7: 133,316,628 (GRCm39)	L83F	probably damaging	Het
Brd9	G	A	13: 74,088,895 (GRCm39)	V198I	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
Calhm1	A	G	19: 47,132,240 (GRCm39)	L125P	probably damaging	Het
Ccdc110	A	T	8: 46,395,705 (GRCm39)	Q532L	possibly damaging	Het
Cdh19	G	A	1: 110,852,907 (GRCm39)	L343F	probably benign	Het
Cep350	A	G	1: 155,778,344 (GRCm39)	S1653P	possibly damaging	Het
Cmtm4	A	G	8: 105,082,952 (GRCm39)	I135T	possibly damaging	Het
Cmya5	A	G	13: 93,230,336 (GRCm39)	L1584P	possibly damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Crp	A	G	1: 172,525,704 (GRCm39)	M1V	probably null	Het
Csmd1	G	A	8: 16,048,788 (GRCm39)	Q2305*	probably null	Het
Cyp2c38	T	A	19: 39,449,132 (GRCm39)	I74F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcaf1	A	T	9: 106,742,876 (GRCm39)		probably benign	Het
Dhx16	C	G	17: 36,196,527 (GRCm39)	A565G	probably benign	Het
Dock7	C	A	4: 98,857,881 (GRCm39)	E1448*	probably null	Het
Dpf2	C	T	19: 5,957,109 (GRCm39)	R38H	probably damaging	Het
E030030I06Rik	T	A	10: 22,024,744 (GRCm39)	R56S	unknown	Het
Etnk1	A	G	6: 143,141,000 (GRCm39)	Y248C	probably damaging	Het
Ext1	A	G	15: 52,953,383 (GRCm39)	S494P	possibly damaging	Het
Gk2	T	C	5: 97,603,579 (GRCm39)	S420G	probably benign	Het
Gm26596	T	C	10: 112,765,064 (GRCm39)		probably benign	Het
Gm5414	G	T	15: 101,536,543 (GRCm39)	N27K	possibly damaging	Het
Gskip	A	G	12: 105,664,988 (GRCm39)	D9G	probably benign	Het
H2-K2	T	A	17: 34,194,989 (GRCm39)		noncoding transcript	Het
Hk1	T	G	10: 62,140,558 (GRCm39)	S105R	probably benign	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Idnk	A	G	13: 58,310,683 (GRCm39)	D67G	probably benign	Het
Igfbp5	G	T	1: 72,903,222 (GRCm39)	H118N	probably benign	Het
Irf4	A	T	13: 30,947,580 (GRCm39)	Y427F	probably benign	Het
Khdc3	A	G	9: 73,009,868 (GRCm39)	E26G	possibly damaging	Het
Kif7	T	C	7: 79,358,939 (GRCm39)	D512G	probably damaging	Het
Lamb3	T	A	1: 193,013,665 (GRCm39)	I513N	probably damaging	Het
Lipo3	A	G	19: 33,760,860 (GRCm39)	L174P	probably damaging	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Map3k21	A	G	8: 126,668,850 (GRCm39)	D812G	probably benign	Het
Mast2	G	T	4: 116,172,036 (GRCm39)	Y637*	probably null	Het
Matn2	T	C	15: 34,428,679 (GRCm39)	I681T	probably damaging	Het
Med18	A	T	4: 132,190,274 (GRCm39)	V37D	possibly damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mmp13	A	T	9: 7,274,233 (GRCm39)	D180V	probably damaging	Het
Mpg	C	A	11: 32,180,034 (GRCm39)	C187*	probably null	Het
Mtmr14	A	G	6: 113,237,567 (GRCm39)	E256G	probably benign	Het
Myo7b	C	T	18: 32,100,178 (GRCm39)		probably null	Het
Nhsl3	G	T	4: 129,115,733 (GRCm39)	T977K	probably benign	Het
Nmt1	T	A	11: 102,954,743 (GRCm39)	V425D	probably damaging	Het
Nynrin	T	A	14: 56,110,351 (GRCm39)	Y1819*	probably null	Het
Or10ak16	A	G	4: 118,751,147 (GRCm39)	N289S	possibly damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Phc1	T	C	6: 122,298,872 (GRCm39)	I699V	possibly damaging	Het
Prkdc	T	G	16: 15,634,638 (GRCm39)	D3594E	probably benign	Het
Pstpip1	A	T	9: 56,032,502 (GRCm39)	D246V	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Ror2	A	T	13: 53,439,536 (GRCm39)	C9*	probably null	Het
Setd1b	C	T	5: 123,286,175 (GRCm39)	A407V	unknown	Het
Slc26a4	T	G	12: 31,590,525 (GRCm39)	D376A	possibly damaging	Het
Smarcad1	A	G	6: 65,044,073 (GRCm39)	E215G	probably benign	Het
Spag16	G	A	1: 69,866,194 (GRCm39)	R11Q	probably null	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tbc1d5	A	G	17: 51,043,251 (GRCm39)	C746R	probably benign	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trem1	G	A	17: 48,551,590 (GRCm39)	V84I	probably benign	Het
Tspan5	T	C	3: 138,604,076 (GRCm39)	F154L	probably damaging	Het
Usp45	A	G	4: 21,825,044 (GRCm39)	R647G	probably benign	Het
Usp50	T	A	2: 126,619,953 (GRCm39)	I120F	probably damaging	Het
Vil1	T	C	1: 74,471,457 (GRCm39)	M746T	probably benign	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	probably benign	Het

Other mutations in Washc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Washc4	APN	10	83,386,747 (GRCm39)	missense	probably benign	0.07
IGL01370:Washc4	APN	10	83,394,694 (GRCm39)	missense	probably damaging	0.98
IGL01524:Washc4	APN	10	83,411,996 (GRCm39)	missense	probably benign	0.37
IGL01682:Washc4	APN	10	83,416,170 (GRCm39)	missense	possibly damaging	0.93
IGL01973:Washc4	APN	10	83,391,973 (GRCm39)	missense	probably damaging	0.99
IGL02002:Washc4	APN	10	83,415,407 (GRCm39)	missense	possibly damaging	0.95
IGL02020:Washc4	APN	10	83,400,336 (GRCm39)	missense	probably damaging	0.97
IGL02230:Washc4	APN	10	83,417,233 (GRCm39)	missense	probably benign	0.00
IGL02421:Washc4	APN	10	83,415,414 (GRCm39)	missense	probably damaging	0.98
IGL02514:Washc4	APN	10	83,405,947 (GRCm39)	missense	probably damaging	0.98
IGL02619:Washc4	APN	10	83,394,717 (GRCm39)	missense	possibly damaging	0.84
IGL02852:Washc4	APN	10	83,419,173 (GRCm39)	missense	possibly damaging	0.95
IGL02870:Washc4	APN	10	83,421,740 (GRCm39)	missense	probably benign
IGL03181:Washc4	APN	10	83,426,883 (GRCm39)	missense	probably damaging	1.00
IGL03247:Washc4	APN	10	83,400,327 (GRCm39)	missense	probably benign	0.02
R0458:Washc4	UTSW	10	83,382,663 (GRCm39)	missense	possibly damaging	0.70
R0462:Washc4	UTSW	10	83,392,777 (GRCm39)	missense	probably benign	0.00
R0471:Washc4	UTSW	10	83,394,598 (GRCm39)	splice site	probably benign
R1144:Washc4	UTSW	10	83,416,194 (GRCm39)	missense	probably damaging	0.97
R1560:Washc4	UTSW	10	83,391,973 (GRCm39)	missense	probably damaging	0.99
R1789:Washc4	UTSW	10	83,415,389 (GRCm39)	missense	possibly damaging	0.92
R1819:Washc4	UTSW	10	83,386,748 (GRCm39)	missense	probably benign	0.08
R2421:Washc4	UTSW	10	83,415,385 (GRCm39)	missense	probably damaging	0.97
R2882:Washc4	UTSW	10	83,415,365 (GRCm39)	missense	possibly damaging	0.93
R2902:Washc4	UTSW	10	83,390,627 (GRCm39)	nonsense	probably null
R3436:Washc4	UTSW	10	83,405,866 (GRCm39)	missense	probably benign	0.33
R3437:Washc4	UTSW	10	83,405,866 (GRCm39)	missense	probably benign	0.33
R3552:Washc4	UTSW	10	83,382,720 (GRCm39)	missense	probably benign	0.45
R4646:Washc4	UTSW	10	83,410,407 (GRCm39)	missense	possibly damaging	0.71
R4647:Washc4	UTSW	10	83,410,407 (GRCm39)	missense	possibly damaging	0.71
R4732:Washc4	UTSW	10	83,410,343 (GRCm39)	missense	probably benign
R4733:Washc4	UTSW	10	83,410,343 (GRCm39)	missense	probably benign
R4750:Washc4	UTSW	10	83,426,916 (GRCm39)	missense	probably damaging	0.99
R4835:Washc4	UTSW	10	83,415,376 (GRCm39)	missense	possibly damaging	0.93
R5024:Washc4	UTSW	10	83,419,200 (GRCm39)	missense	possibly damaging	0.71
R5055:Washc4	UTSW	10	83,392,771 (GRCm39)	missense	probably damaging	0.99
R5414:Washc4	UTSW	10	83,391,967 (GRCm39)	missense	possibly damaging	0.95
R5423:Washc4	UTSW	10	83,415,418 (GRCm39)	missense	possibly damaging	0.71
R5428:Washc4	UTSW	10	83,410,386 (GRCm39)	missense	probably benign	0.00
R5506:Washc4	UTSW	10	83,417,201 (GRCm39)	missense	probably damaging	0.97
R5540:Washc4	UTSW	10	83,409,657 (GRCm39)	missense	probably damaging	0.99
R5667:Washc4	UTSW	10	83,405,892 (GRCm39)	missense	probably damaging	0.97
R5671:Washc4	UTSW	10	83,405,892 (GRCm39)	missense	probably damaging	0.97
R5777:Washc4	UTSW	10	83,391,469 (GRCm39)	missense	probably damaging	1.00
R6369:Washc4	UTSW	10	83,410,308 (GRCm39)	missense	probably damaging	1.00
R6370:Washc4	UTSW	10	83,407,226 (GRCm39)	missense	possibly damaging	0.85
R6500:Washc4	UTSW	10	83,394,687 (GRCm39)	missense	probably damaging	1.00
R6645:Washc4	UTSW	10	83,408,059 (GRCm39)	nonsense	probably null
R6657:Washc4	UTSW	10	83,394,482 (GRCm39)	missense	possibly damaging	0.92
R6829:Washc4	UTSW	10	83,396,380 (GRCm39)	missense	probably damaging	0.97
R6862:Washc4	UTSW	10	83,394,757 (GRCm39)	missense	possibly damaging	0.92
R6899:Washc4	UTSW	10	83,411,919 (GRCm39)	missense	probably benign	0.07
R7144:Washc4	UTSW	10	83,409,638 (GRCm39)	critical splice acceptor site	probably null
R7163:Washc4	UTSW	10	83,426,897 (GRCm39)	missense	probably damaging	0.99
R7477:Washc4	UTSW	10	83,410,307 (GRCm39)	missense	probably damaging	0.99
R7900:Washc4	UTSW	10	83,409,637 (GRCm39)	splice site	probably null
R8194:Washc4	UTSW	10	83,416,163 (GRCm39)	missense	possibly damaging	0.51
R8491:Washc4	UTSW	10	83,411,987 (GRCm39)	missense	probably benign	0.24
R8791:Washc4	UTSW	10	83,386,748 (GRCm39)	missense	probably benign	0.08
R8804:Washc4	UTSW	10	83,408,015 (GRCm39)	missense	probably damaging	0.99
R8896:Washc4	UTSW	10	83,405,882 (GRCm39)	missense	probably damaging	0.98
R8961:Washc4	UTSW	10	83,409,657 (GRCm39)	missense	probably damaging	0.99
R9084:Washc4	UTSW	10	83,422,499 (GRCm39)	missense	possibly damaging	0.92
R9452:Washc4	UTSW	10	83,396,387 (GRCm39)	missense	probably benign
R9532:Washc4	UTSW	10	83,417,258 (GRCm39)	splice site	probably benign
X0017:Washc4	UTSW	10	83,427,007 (GRCm39)	missense	probably damaging	1.00
X0066:Washc4	UTSW	10	83,394,693 (GRCm39)	frame shift	probably null
Z1088:Washc4	UTSW	10	83,412,605 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGCCTATATCACGGGTTTCAGG -3'
(R):5'- CATCTTCCAAAGCACTGCTC -3'

Sequencing Primer
(F):5'- GGTCAGAGTTTTTGTATGCAATTACC -3'
(R):5'- AGTACACTGTAGCTGTCTTCAGAC -3'

Posted On

2015-10-08