Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03247:Washc4'

414425

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 #

IGL03247

Quality Score

Status

Chromosome

Chromosomal Location

83379616-83432337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83400327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 418 (S418P)

Ref Sequence

ENSEMBL: ENSMUSP00000039322 (fasta)

Gene Model

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

AlphaFold

Q3UMB9

Predicted Effect

probably benign
Transcript: ENSMUST00000038388
AA Change: S418P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: S418P

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	T	A	14: 56,007,553 (GRCm39)	I926F	probably damaging	Het
Agap3	A	G	5: 24,692,820 (GRCm39)	N418D	probably damaging	Het
Alms1	T	C	6: 85,655,579 (GRCm39)	V3375A	possibly damaging	Het
Ankrd6	T	A	4: 32,860,441 (GRCm39)	M1L	possibly damaging	Het
Aox4	A	G	1: 58,303,526 (GRCm39)	D1188G	probably damaging	Het
Car2	T	A	3: 14,952,999 (GRCm39)	L47Q	probably damaging	Het
Catsper2	A	G	2: 121,240,681 (GRCm39)	V107A	probably benign	Het
Catsperg2	T	C	7: 29,416,473 (GRCm39)	N313S	possibly damaging	Het
Dolk	T	C	2: 30,175,523 (GRCm39)	Y174C	probably damaging	Het
Erfe	A	G	1: 91,298,147 (GRCm39)	E219G	probably benign	Het
Ern2	T	C	7: 121,770,894 (GRCm39)	E733G	probably benign	Het
Fam228a	A	G	12: 4,787,734 (GRCm39)	F13S	probably damaging	Het
Fancd2	T	C	6: 113,545,169 (GRCm39)	V829A	probably benign	Het
Gid4	C	A	11: 60,323,169 (GRCm39)	T87N	probably benign	Het
H2-Ob	A	G	17: 34,462,466 (GRCm39)	K152R	probably benign	Het
Ifna2	T	A	4: 88,601,614 (GRCm39)	T135S	probably benign	Het
Il1rapl2	G	A	X: 137,690,429 (GRCm39)	G298D	probably damaging	Het
Mbd1	T	A	18: 74,407,825 (GRCm39)	L174*	probably null	Het
Mga	T	A	2: 119,765,994 (GRCm39)	D1341E	possibly damaging	Het
Mmp12	T	A	9: 7,348,631 (GRCm39)	M54K	probably benign	Het
Mphosph8	T	A	14: 56,916,277 (GRCm39)		probably null	Het
Mrps23	A	G	11: 88,100,922 (GRCm39)		probably benign	Het
Necab1	C	T	4: 14,960,046 (GRCm39)	M300I	probably benign	Het
Nid2	G	A	14: 19,829,688 (GRCm39)	D660N	probably damaging	Het
Or2ag12	T	A	7: 106,276,754 (GRCm39)	H313L	probably benign	Het
Or9r7	T	A	10: 129,962,584 (GRCm39)	E114V	probably damaging	Het
P2ry13	A	T	3: 59,117,013 (GRCm39)	V255D	possibly damaging	Het
Peak1	C	T	9: 56,165,214 (GRCm39)	E905K	probably damaging	Het
Picalm	C	A	7: 89,843,499 (GRCm39)	Q550K	probably benign	Het
Rnf103	T	A	6: 71,487,289 (GRCm39)	V640E	possibly damaging	Het
Sec31b	T	G	19: 44,507,379 (GRCm39)	K817N	possibly damaging	Het
Shisal2a	A	T	4: 108,225,098 (GRCm39)	C155S	probably benign	Het
Skint2	C	A	4: 112,483,223 (GRCm39)	H209Q	probably benign	Het
Skint5	T	C	4: 113,798,005 (GRCm39)	S193G	probably damaging	Het
Tacr3	A	G	3: 134,635,852 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,753,680 (GRCm39)	M1041V	possibly damaging	Het
Tm4sf1	A	G	3: 57,200,436 (GRCm39)	S89P	possibly damaging	Het
Tusc3	T	A	8: 39,597,931 (GRCm39)	N299K	possibly 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
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
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

2016-08-02