Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02020:Washc4'

183941

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Washc4

Ensembl Gene

ENSMUSG00000034560

Gene Name

WASH complex subunit 4

Synonyms

A230046K03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL02020

Quality Score

Status

Chromosome

Chromosomal Location

83379616-83432337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83400336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 421 (S421P)

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: S421P

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

SMART Domains

Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: S421P

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 84,659,577 (GRCm39)	Q711L	probably benign	Het
Atg9b	A	C	5: 24,596,056 (GRCm39)	N205K	possibly damaging	Het
Brinp3	T	C	1: 146,777,865 (GRCm39)		probably benign	Het
Cdh20	A	G	1: 110,066,078 (GRCm39)	Y784C	probably damaging	Het
Csmd2	T	A	4: 128,453,672 (GRCm39)	D142E	probably damaging	Het
Dscam	A	G	16: 96,517,269 (GRCm39)	L880P	probably damaging	Het
Gm14496	A	G	2: 181,637,882 (GRCm39)	T319A	possibly damaging	Het
Hr	A	G	14: 70,793,877 (GRCm39)	T46A	probably benign	Het
Ighv1-7	A	G	12: 114,502,345 (GRCm39)	C41R	probably damaging	Het
Itga3	C	T	11: 94,948,216 (GRCm39)	V539I	probably benign	Het
Kif13a	T	A	13: 46,947,495 (GRCm39)	I830F	probably benign	Het
Mphosph9	T	C	5: 124,397,013 (GRCm39)	N1110S	probably damaging	Het
Or5m11b	A	G	2: 85,805,579 (GRCm39)		probably benign	Het
Pdia3	G	A	2: 121,266,900 (GRCm39)		probably null	Het
Phpt1	T	C	2: 25,464,221 (GRCm39)	I87M	probably damaging	Het
Psd3	T	C	8: 68,426,822 (GRCm39)		probably benign	Het
Ranbp2	A	G	10: 58,315,769 (GRCm39)	E2163G	probably damaging	Het
Ranbp6	T	C	19: 29,787,176 (GRCm39)	I1059V	probably benign	Het
Runx2	C	T	17: 44,969,486 (GRCm39)	G253D	probably damaging	Het
S100a5	A	G	3: 90,517,121 (GRCm39)		probably benign	Het
Skint1	T	A	4: 111,882,724 (GRCm39)	M256K	probably benign	Het
Slc9a3	C	T	13: 74,306,967 (GRCm39)	A364V	probably damaging	Het
Srsf3-ps	C	A	11: 98,516,335 (GRCm39)	V13L	probably damaging	Het
Trip11	C	T	12: 101,850,572 (GRCm39)	R879Q	probably damaging	Het
Tubgcp3	T	C	8: 12,687,780 (GRCm39)	T588A	possibly damaging	Het
Vmn2r100	T	A	17: 19,725,200 (GRCm39)	V43E	possibly damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wwp2	G	A	8: 108,283,127 (GRCm39)	R354Q	probably damaging	Het
Zfp804b	T	A	5: 6,819,118 (GRCm39)	Q1315L	probably damaging	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
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
R4648: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

Posted On

2014-05-07