Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01682:Washc4'

103830

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 #

IGL01682

Quality Score

Status

Chromosome

Chromosomal Location

83379616-83432337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83416170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 820 (I820T)

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: I820T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: I820T

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmo	T	C	12: 37,407,626 (GRCm39)		probably benign	Het
Atp2c1	C	T	9: 105,330,041 (GRCm39)	G93D	probably damaging	Het
C2cd6	T	G	1: 59,101,660 (GRCm39)	Y333S	probably damaging	Het
Cacna1a	A	G	8: 85,263,067 (GRCm39)	E414G	possibly damaging	Het
Capn10	C	A	1: 92,868,106 (GRCm39)	T191K	probably benign	Het
Cd226	A	T	18: 89,287,187 (GRCm39)	R328S	probably damaging	Het
Cdk10	A	G	8: 123,954,397 (GRCm39)		probably null	Het
Cyp4a31	T	A	4: 115,435,228 (GRCm39)	V486D	probably damaging	Het
Dgke	A	T	11: 88,943,267 (GRCm39)	L241I	probably damaging	Het
Dnah6	G	T	6: 73,052,785 (GRCm39)	A2965E	probably damaging	Het
Fbn2	A	T	18: 58,205,743 (GRCm39)	C1112S	probably damaging	Het
Gm10228	T	A	16: 88,838,073 (GRCm39)	Y77F	unknown	Het
Gng3	T	C	19: 8,815,944 (GRCm39)	I25V	probably benign	Het
Gramd2a	A	G	9: 59,619,393 (GRCm39)	I61M	possibly damaging	Het
Hcar2	T	C	5: 124,002,582 (GRCm39)	N307S	probably benign	Het
Iars1	G	A	13: 49,863,134 (GRCm39)	E529K	probably damaging	Het
Ilvbl	C	T	10: 78,412,941 (GRCm39)		probably benign	Het
Itprid2	A	G	2: 79,465,981 (GRCm39)	Q33R	probably damaging	Het
Lrp1	T	C	10: 127,410,847 (GRCm39)	K1447R	probably benign	Het
Mmp20	A	G	9: 7,671,376 (GRCm39)	D426G	probably benign	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Or4f4b	G	A	2: 111,314,188 (GRCm39)	G138S	probably damaging	Het
Or51f2	C	T	7: 102,526,440 (GRCm39)	L38F	probably benign	Het
Pip4k2a	A	G	2: 19,002,779 (GRCm39)	S10P	probably benign	Het
Pth1r	A	T	9: 110,552,774 (GRCm39)		probably null	Het
Rprd1b	T	C	2: 157,892,080 (GRCm39)	I201T	probably damaging	Het
Rsbn1	A	G	3: 103,869,696 (GRCm39)	N719S	probably benign	Het
Sorcs1	C	T	19: 50,169,944 (GRCm39)	G939E	probably benign	Het
St8sia5	A	G	18: 77,336,196 (GRCm39)	K210E	probably damaging	Het
Trav3-1	G	A	14: 52,818,649 (GRCm39)	V108M	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
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
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

2014-01-21