Mutagenetix > Incidental Mutation

Incidental Mutation 'R4835:Washc4'

373170

Institutional Source

Beutler Lab

Gene Symbol

Washc4

Ensembl Gene

ENSMUSG00000034560

Gene Name

WASH complex subunit 4

Synonyms

A230046K03Rik

MMRRC Submission

042450-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4835 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83379616-83432337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83415376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 789 (I789F)

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: I789F

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

SMART Domains

Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: I789F

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

Meta Mutation Damage Score

0.4854

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (96/98)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,274,326 (GRCm39)		noncoding transcript	Het
4933434E20Rik	A	G	3: 89,970,516 (GRCm39)	N17D	probably benign	Het
A1bg	T	C	15: 60,792,100 (GRCm39)	D176G	probably benign	Het
Abcg5	A	T	17: 84,966,076 (GRCm39)	M428K	possibly damaging	Het
Adam1a	A	T	5: 121,657,752 (GRCm39)	C514S	probably damaging	Het
Angptl3	A	G	4: 98,925,649 (GRCm39)	Q325R	probably benign	Het
Ankrd26	C	T	6: 118,525,811 (GRCm39)	W378*	probably null	Het
Apob	T	C	12: 8,065,391 (GRCm39)	V4087A	possibly damaging	Het
Auts2	A	G	5: 131,494,931 (GRCm39)	I117T	probably damaging	Het
AW146154	T	A	7: 41,129,892 (GRCm39)	E408V	probably damaging	Het
Bicd1	A	T	6: 149,385,588 (GRCm39)	N107I	probably benign	Het
Blm	T	C	7: 80,159,294 (GRCm39)	S281G	probably benign	Het
Btaf1	T	A	19: 36,979,858 (GRCm39)	D1542E	probably benign	Het
C2cd2l	A	G	9: 44,226,442 (GRCm39)		probably null	Het
Capn8	C	A	1: 182,432,116 (GRCm39)	N362K	probably damaging	Het
Ccdc14	T	G	16: 34,525,408 (GRCm39)	S186A	probably damaging	Het
Cdca4	A	G	12: 112,785,167 (GRCm39)	L187P	probably damaging	Het
Chil6	T	A	3: 106,313,290 (GRCm39)	K20*	probably null	Het
Cmss1	A	T	16: 57,136,545 (GRCm39)	L109*	probably null	Het
Cmtm6	G	T	9: 114,560,410 (GRCm39)	W36L	probably benign	Het
Cnksr3	T	G	10: 7,110,757 (GRCm39)	I35L	possibly damaging	Het
Col4a2	G	T	8: 11,473,570 (GRCm39)	G534*	probably null	Het
Col5a1	T	G	2: 27,915,656 (GRCm39)	V180G	probably damaging	Het
Ctnna3	T	C	10: 63,417,723 (GRCm39)	F154L	probably benign	Het
Fabp7	G	A	10: 57,661,676 (GRCm39)	V50M	possibly damaging	Het
Fam170a	T	A	18: 50,415,050 (GRCm39)	V232D	probably damaging	Het
Fam186a	T	G	15: 99,843,689 (GRCm39)	T852P	unknown	Het
Fam20a	T	C	11: 109,564,389 (GRCm39)	I455V	probably benign	Het
Fbxl6	C	T	15: 76,421,004 (GRCm39)	V324M	probably damaging	Het
Galnt18	T	C	7: 111,378,730 (GRCm39)	T9A	probably damaging	Het
Golgb1	T	A	16: 36,711,769 (GRCm39)	M191K	possibly damaging	Het
Gpld1	A	G	13: 25,166,699 (GRCm39)	T650A	probably benign	Het
Gprc5d	A	G	6: 135,093,515 (GRCm39)	F131L	probably benign	Het
H2az2	C	T	11: 6,389,437 (GRCm39)	G7E	unknown	Het
Haus4	A	T	14: 54,783,292 (GRCm39)		probably null	Het
Helq	A	G	5: 100,922,029 (GRCm39)	I725T	possibly damaging	Het
Igsf23	T	A	7: 19,675,755 (GRCm39)	D117V	possibly damaging	Het
Kiz	A	T	2: 146,784,008 (GRCm39)	S514C	probably damaging	Het
Klhl6	A	T	16: 19,775,783 (GRCm39)	N258K	probably benign	Het
Krt72	G	C	15: 101,689,508 (GRCm39)		probably null	Het
Large1	A	T	8: 73,774,975 (GRCm39)	I245N	probably damaging	Het
Lrrc31	T	C	3: 30,733,306 (GRCm39)	I469M	probably damaging	Het
Lypd4	T	A	7: 24,566,121 (GRCm39)	I68F	probably benign	Het
Mast1	A	G	8: 85,650,408 (GRCm39)	S442P	probably damaging	Het
Mmp20	T	A	9: 7,645,300 (GRCm39)	H283Q	probably benign	Het
Mrps5	G	A	2: 127,445,627 (GRCm39)	V385M	possibly damaging	Het
Ms4a15	T	C	19: 10,956,590 (GRCm39)	K241E	possibly damaging	Het
Myt1	A	G	2: 181,439,255 (GRCm39)	E259G	probably damaging	Het
Myt1l	C	A	12: 29,945,304 (GRCm39)	T1023K	unknown	Het
Ncapd3	T	C	9: 26,997,342 (GRCm39)	L1221P	probably damaging	Het
Ncoa6	A	G	2: 155,249,053 (GRCm39)	V1417A	possibly damaging	Het
Nmnat1	A	G	4: 149,557,802 (GRCm39)	V80A	possibly damaging	Het
Nwd2	A	G	5: 63,965,189 (GRCm39)	E1591G	probably benign	Het
Or10ac1	A	G	6: 42,515,770 (GRCm39)	F62S	probably damaging	Het
Or8j3b	A	G	2: 86,204,853 (GRCm39)	L301S	possibly damaging	Het
Osbpl1a	A	T	18: 12,901,593 (GRCm39)		probably null	Het
Papln	T	C	12: 83,821,194 (GRCm39)	I204T	probably damaging	Het
Phf1	A	G	17: 27,153,652 (GRCm39)	T97A	probably benign	Het
Plxnb1	A	G	9: 108,934,442 (GRCm39)	D890G	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rbp2	G	A	9: 98,389,876 (GRCm39)	C96Y	probably damaging	Het
Rgmb	A	T	17: 16,027,624 (GRCm39)	M365K	possibly damaging	Het
Ric1	A	G	19: 29,572,936 (GRCm39)	N792S	possibly damaging	Het
Ruvbl1	T	C	6: 88,474,211 (GRCm39)	Y405H	possibly damaging	Het
Scaf4	A	G	16: 90,047,195 (GRCm39)	M394T	unknown	Het
Siglech	T	A	7: 55,418,177 (GRCm39)	C48*	probably null	Het
Skic2	A	G	17: 35,061,897 (GRCm39)	V695A	possibly damaging	Het
Slc2a5	A	G	4: 150,224,462 (GRCm39)	T320A	probably benign	Het
Slc6a7	T	C	18: 61,135,277 (GRCm39)	Y417C	probably benign	Het
Sox21	A	G	14: 118,472,336 (GRCm39)	C238R	possibly damaging	Het
Tbata	A	T	10: 61,019,132 (GRCm39)	K109N	probably damaging	Het
Tecpr2	T	G	12: 110,921,164 (GRCm39)	S1246A	probably benign	Het
Tekt3	A	G	11: 62,972,085 (GRCm39)	D247G	probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Thada	A	T	17: 84,748,532 (GRCm39)		probably null	Het
Tpcn2	C	T	7: 144,826,088 (GRCm39)	G204R	probably damaging	Het
Tpm2	T	C	4: 43,519,220 (GRCm39)		probably null	Het
Trbv24	T	C	6: 41,195,026 (GRCm39)		probably benign	Het
Tyw1	A	G	5: 130,305,899 (GRCm39)	R341G	probably benign	Het
Vmn1r183	T	G	7: 23,754,564 (GRCm39)	N122K	probably benign	Het
Vmn2r61	T	A	7: 41,916,459 (GRCm39)	H357Q	possibly damaging	Het
Vps13b	C	T	15: 35,869,518 (GRCm39)	T2674I	probably damaging	Het
Vps13b	T	C	15: 35,910,439 (GRCm39)	L3401P	probably benign	Het
Vps16	T	G	2: 130,280,220 (GRCm39)		probably benign	Het
Vrtn	T	A	12: 84,696,468 (GRCm39)	I406N	probably damaging	Het
Vwa8	A	T	14: 79,172,053 (GRCm39)	Y278F	probably benign	Het
Zbtb20	C	A	16: 43,438,761 (GRCm39)	T627K	probably damaging	Het
Zfyve16	A	T	13: 92,658,693 (GRCm39)	I406K	probably benign	Het
Zfyve9	A	C	4: 108,575,195 (GRCm39)	S629A	possibly damaging	Het
Zpld1	A	T	16: 55,068,618 (GRCm39)	N164K	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
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
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'- TCTCAAGGAGGTGATTCCGG -3'
(R):5'- GACGTTCTCATTTACAGCTTTAGC -3'

Sequencing Primer
(F):5'- AGGTGATTCCGGCTGTGTAAG -3'
(R):5'- TTCTAGGGCAGTCAGGACTAC -3'

Posted On

2016-03-01