Mutagenetix > Incidental Mutation

Incidental Mutation 'R3437:Washc4'

267244

Institutional Source

Beutler Lab

Gene Symbol

Washc4

Ensembl Gene

ENSMUSG00000034560

Gene Name

WASH complex subunit 4

Synonyms

A230046K03Rik

MMRRC Submission

040655-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R3437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83379616-83432337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83405866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 454 (I454N)

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: I454N

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: I454N

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

Meta Mutation Damage Score

0.7693

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

100% (42/42)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,616,253 (GRCm39)	L127R	probably null	Het
Ambp	T	C	4: 63,067,721 (GRCm39)	E163G	probably benign	Het
Amy1	G	A	3: 113,349,658 (GRCm39)	A504V	probably damaging	Het
Angptl3	A	T	4: 98,921,540 (GRCm39)	K219N	probably benign	Het
Atp6v1g1	A	G	4: 63,468,255 (GRCm39)	N86S	probably benign	Het
Avl9	T	C	6: 56,713,612 (GRCm39)	V290A	probably benign	Het
Bad	A	G	19: 6,919,799 (GRCm39)	R37G	probably benign	Het
Bicra	T	C	7: 15,723,223 (GRCm39)	D98G	possibly damaging	Het
Cfap251	A	G	5: 123,392,435 (GRCm39)		probably benign	Het
Col4a4	G	A	1: 82,474,889 (GRCm39)	T650M	unknown	Het
Cyp11b2	T	C	15: 74,727,298 (GRCm39)	R128G	probably benign	Het
Dst	T	C	1: 34,229,303 (GRCm39)	S1974P	probably damaging	Het
Fabp1	T	C	6: 71,178,595 (GRCm39)	L24P	probably benign	Het
Flnb	T	C	14: 7,942,057 (GRCm38)	V2345A	probably damaging	Het
Gmnc	G	T	16: 26,779,217 (GRCm39)	H221Q	probably benign	Het
Homer1	T	C	13: 93,502,929 (GRCm39)		probably benign	Het
Kit	A	G	5: 75,806,565 (GRCm39)	D690G	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Mc3r	C	T	2: 172,091,588 (GRCm39)	T270I	probably benign	Het
Mrgpra3	A	C	7: 47,239,314 (GRCm39)	L204W	probably damaging	Het
Mroh1	C	T	15: 76,317,808 (GRCm39)	T839I	possibly damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Optc	T	C	1: 133,825,617 (GRCm39)	D303G	probably damaging	Het
Or2n1d	A	G	17: 38,646,323 (GRCm39)	I92V	probably damaging	Het
Or5af1	A	T	11: 58,722,150 (GRCm39)	M57L	probably damaging	Het
P4ha3	C	T	7: 99,934,831 (GRCm39)	A31V	possibly damaging	Het
Plch2	A	G	4: 155,075,470 (GRCm39)		probably null	Het
Plpp2	A	T	10: 79,363,647 (GRCm39)		probably null	Het
Polq	A	T	16: 36,882,699 (GRCm39)	N1342I	probably damaging	Het
Pter	T	A	2: 13,005,805 (GRCm39)	L326H	probably benign	Het
Pwwp2a	C	T	11: 43,597,015 (GRCm39)	Q452*	probably null	Het
Slc8a2	T	G	7: 15,892,810 (GRCm39)	V824G	probably damaging	Het
Slfn2	A	T	11: 82,960,390 (GRCm39)	H123L	probably benign	Het
Tmem132e	A	G	11: 82,335,156 (GRCm39)	Y654C	probably damaging	Het
Trim14	C	T	4: 46,523,739 (GRCm39)	V100I	possibly damaging	Het
Tro	G	A	X: 149,429,252 (GRCm39)		probably benign	Het
Uspl1	T	A	5: 149,151,507 (GRCm39)		probably benign	Het
Uty	A	G	Y: 1,158,336 (GRCm39)	I522T	probably benign	Het
Vmn1r120	A	C	7: 20,787,582 (GRCm39)	L43W	probably damaging	Het
Vmn2r16	A	T	5: 109,478,362 (GRCm39)	D39V	probably damaging	Het
Wnt16	T	C	6: 22,298,133 (GRCm39)	V333A	probably damaging	Het
Ylpm1	T	C	12: 85,096,644 (GRCm39)		probably null	Het
Zfy1	A	T	Y: 726,357 (GRCm39)	D469E	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGCTTGAAAAGGGACATTG -3'
(R):5'- TCCCAAGTTTGTATTCTGATGCAAC -3'

Sequencing Primer
(F):5'- AGGACCCGTGTTTAATCCAG -3'
(R):5'- TTCTGATGCAACCAGAAAGCAAAAC -3'

Posted On

2015-02-18