Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Washc4'

391245

Institutional Source

Beutler Lab

Gene Symbol

Washc4

Ensembl Gene

ENSMUSG00000034560

Gene Name

WASH complex subunit 4

Synonyms

A230046K03Rik

MMRRC Submission

042615-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R5024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83379616-83432337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83419200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 911 (Q911K)

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: Q911K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: Q911K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219582

Meta Mutation Damage Score

0.2337

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

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
Adgrd1	A	G	5: 129,248,959 (GRCm39)	N575S	probably damaging	Het
Akap6	C	T	12: 53,189,345 (GRCm39)	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,639,511 (GRCm39)	N289K	probably damaging	Het
Atad2b	A	C	12: 4,987,534 (GRCm39)	T121P	probably benign	Het
Atp4a	A	C	7: 30,415,289 (GRCm39)	D303A	possibly damaging	Het
Calu	A	T	6: 29,374,518 (GRCm39)		probably benign	Het
Ccdc141	A	C	2: 76,885,047 (GRCm39)	N531K	probably benign	Het
Ccdc146	T	C	5: 21,604,612 (GRCm39)		probably null	Het
Cd207	G	A	6: 83,651,301 (GRCm39)	T218I	probably damaging	Het
Cd2ap	A	C	17: 43,116,236 (GRCm39)		probably null	Het
Ceacam23	A	G	7: 17,644,607 (GRCm39)	I575V	probably benign	Het
Clip3	G	A	7: 29,991,644 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,751 (GRCm39)	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,215,141 (GRCm39)	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,955,070 (GRCm39)	E2033V	probably damaging	Het
Eng	T	G	2: 32,563,404 (GRCm39)	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296 (GRCm39)	W57*	probably null	Het
Etv1	T	A	12: 38,904,233 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,673,081 (GRCm39)		probably null	Het
Fam221b	T	A	4: 43,659,674 (GRCm39)	N482I	probably damaging	Het
Fam83h	T	C	15: 75,876,991 (GRCm39)	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,008,403 (GRCm39)	T449A	probably benign	Het
Fbxw25	A	T	9: 109,492,442 (GRCm39)		probably null	Het
Frmd3	T	A	4: 74,016,381 (GRCm39)	S99T	probably benign	Het
Gm5174	G	T	10: 86,492,451 (GRCm39)		noncoding transcript	Het
Gm815	C	T	19: 26,865,175 (GRCm39)	Q49*	probably null	Het
H2-DMa	A	T	17: 34,357,461 (GRCm39)	I245F	possibly damaging	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,463,661 (GRCm39)		probably null	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,556,439 (GRCm39)	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,681,657 (GRCm39)	H33N	probably benign	Het
Il6	T	C	5: 30,224,512 (GRCm39)	L184P	probably damaging	Het
Impg2	T	A	16: 56,080,463 (GRCm39)	S756T	probably damaging	Het
Insyn2a	A	G	7: 134,520,207 (GRCm39)	S108P	probably damaging	Het
Kank4	T	G	4: 98,673,898 (GRCm39)	D5A	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,683 (GRCm39)	T349S	probably benign	Het
Keap1	A	G	9: 21,148,522 (GRCm39)	Y162H	probably damaging	Het
Kif9	T	C	9: 110,312,161 (GRCm39)	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,476,809 (GRCm39)	T257A	probably damaging	Het
Lpin1	A	T	12: 16,604,007 (GRCm39)	L608Q	probably benign	Het
Lyst	T	C	13: 13,808,989 (GRCm39)	S220P	probably benign	Het
M1ap	A	G	6: 83,005,339 (GRCm39)		probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Myo5b	A	T	18: 74,849,105 (GRCm39)	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,839,253 (GRCm39)	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155 (GRCm38)		noncoding transcript	Het
Odad2	T	C	18: 7,088,555 (GRCm39)	M1005V	probably benign	Het
Or14c39	A	T	7: 86,344,089 (GRCm39)	M142L	probably benign	Het
Or2ak5	T	A	11: 58,611,776 (GRCm39)	I33F	probably benign	Het
Or5al6	G	T	2: 85,976,877 (GRCm39)	A67E	probably damaging	Het
Or8j3c	C	T	2: 86,253,805 (GRCm39)	G72S	possibly damaging	Het
Otud6b	T	A	4: 14,826,293 (GRCm39)	Q34L	probably damaging	Het
Parp11	C	T	6: 127,448,599 (GRCm39)	T72I	probably damaging	Het
Pbx1	T	A	1: 168,011,158 (GRCm39)	D343V	possibly damaging	Het
Phf11	T	C	14: 59,495,932 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel15	C	A	4: 144,099,878 (GRCm39)	E296*	probably null	Het
Ranbp9	A	T	13: 43,588,331 (GRCm39)	I67N	probably damaging	Het
Rasgrp4	A	G	7: 28,847,832 (GRCm39)	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,418,226 (GRCm39)	H15R	possibly damaging	Het
Scd2	A	G	19: 44,289,710 (GRCm39)	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365 (GRCm39)	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,073,317 (GRCm39)	G722C	probably damaging	Het
Shmt1	A	T	11: 60,688,305 (GRCm39)		probably benign	Het
Slc12a1	A	G	2: 125,008,057 (GRCm39)	I206V	probably benign	Het
Slc26a3	A	G	12: 31,503,907 (GRCm39)	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572 (GRCm39)	D434V	possibly damaging	Het
Slc6a16	G	T	7: 44,909,390 (GRCm39)	M185I	probably benign	Het
Stat4	A	G	1: 52,121,729 (GRCm39)	I363V	possibly damaging	Het
Tgfb1i1	G	T	7: 127,847,389 (GRCm39)	M1I	probably null	Het
Thoc2l	A	G	5: 104,670,124 (GRCm39)	K1549E	possibly damaging	Het
Tmem225	T	C	9: 40,060,639 (GRCm39)	V66A	probably benign	Het
Tmtc4	T	C	14: 123,178,714 (GRCm39)		probably null	Het
Trpc4	T	A	3: 54,102,217 (GRCm39)	N38K	probably benign	Het
Ttll12	A	T	15: 83,471,314 (GRCm39)	Y218N	probably damaging	Het
Ttn	A	T	2: 76,778,769 (GRCm39)		probably null	Het
Tulp1	A	C	17: 28,570,969 (GRCm39)	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,513,746 (GRCm39)	V299A	probably damaging	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Zan	A	T	5: 137,460,155 (GRCm39)	C1245*	probably null	Het
Zfyve9	A	C	4: 108,548,866 (GRCm39)	S773A	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
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
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'- ACAGACTGGGCATGAATTGAC -3'
(R):5'- AGCACTTATCTAGTTCCCACAC -3'

Sequencing Primer
(F):5'- GGCATGAATTGACCTTGAATACC -3'
(R):5'- CACACAACAGCTCAGTAAGTGGG -3'

Posted On

2016-06-06