Mutagenetix > Incidental Mutations

Incidental Mutation 'R2122:Wdr11'

229582

Institutional Source

Beutler Lab

Gene Symbol

Wdr11

Ensembl Gene

ENSMUSG00000042055

Gene Name

WD repeat domain 11

Synonyms

Brwd2, Wdr11

MMRRC Submission

040126-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R2122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129591863-129635738 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129631766 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 1028 (C1028Y)

Ref Sequence

ENSEMBL: ENSMUSP00000081567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084519]

Predicted Effect

probably damaging
Transcript: ENSMUST00000084519
AA Change: C1028Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: C1028Y

Domain	Start	End	E-Value	Type
WD40	50	99	2e-1	SMART
WD40	102	145	2.84e2	SMART
low complexity region	189	200	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
low complexity region	454	465	N/A	INTRINSIC
WD40	552	595	4.42e1	SMART
WD40	696	735	1.66e0	SMART
WD40	737	777	1.43e1	SMART
WD40	780	821	1.38e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140877

Predicted Effect

probably benign
Transcript: ENSMUST00000148752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149541

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,519,961	G975V	probably damaging	Het
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Actl10	G	A	2: 154,552,233	R35H	probably damaging	Het
Adamts12	C	T	15: 11,310,579	T974I	probably damaging	Het
Ahctf1	C	A	1: 179,769,452	R43L	probably damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Arhgef7	A	T	8: 11,728,256	N2I	possibly damaging	Het
Blvra	T	G	2: 127,086,897	S102A	probably damaging	Het
Btn1a1	A	G	13: 23,461,521	L226P	probably damaging	Het
C2cd4d	G	T	3: 94,363,618	E64*	probably null	Het
Ccna2	A	G	3: 36,568,726	V209A	probably damaging	Het
Cd55	T	A	1: 130,459,617	D148V	possibly damaging	Het
Cdh2	G	A	18: 16,774,543	P46L	probably benign	Het
Cldn11	A	G	3: 31,163,151	Y156C	probably damaging	Het
Cmtm2a	T	C	8: 104,293,023	R12G	possibly damaging	Het
Cog2	T	C	8: 124,528,985	S104P	possibly damaging	Het
Col4a3	T	G	1: 82,654,957	F184V	unknown	Het
Col4a4	T	A	1: 82,456,871	D1406V	unknown	Het
Col6a1	T	C	10: 76,721,498	T207A	probably benign	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dcdc2a	T	G	13: 25,119,285	S266R	possibly damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Eif2ak4	T	A	2: 118,455,793	V1063E	probably damaging	Het
Enpp2	A	T	15: 54,897,792	Y44*	probably null	Het
Ep400	A	T	5: 110,708,850		probably benign	Het
Exoc6b	A	G	6: 84,621,482	M779T	probably benign	Het
F13a1	T	A	13: 37,025,679	Y104F	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Fscn3	A	G	6: 28,430,389	D186G	probably benign	Het
Gm5773	G	A	3: 93,773,317	G99R	possibly damaging	Het
Grk1	A	T	8: 13,405,221	Y35F	probably benign	Het
Heatr1	T	C	13: 12,403,264	V359A	probably benign	Het
Hfm1	A	G	5: 106,896,255	S567P	probably damaging	Het
Il1rap	A	T	16: 26,710,565	H379L	probably damaging	Het
Kctd5	T	C	17: 24,055,966	T212A	probably benign	Het
Krtap5-5	A	T	7: 142,229,503	C137S	unknown	Het
Lrp2	T	C	2: 69,483,707	T2227A	probably damaging	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Map1a	T	A	2: 121,299,446	Y248N	probably damaging	Het
Mdc1	C	T	17: 35,847,943	A405V	probably benign	Het
Mfsd4b1	T	C	10: 40,002,651	K417E	possibly damaging	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Myh11	T	C	16: 14,218,004	E1027G	probably damaging	Het
Nudt6	A	C	3: 37,412,405	F80L	probably benign	Het
Nxph1	A	G	6: 9,247,791	K254R	probably damaging	Het
Obsl1	C	T	1: 75,493,883	R1043H	probably benign	Het
Olfr17	A	T	7: 107,098,109	I215F	probably damaging	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Phldb2	T	A	16: 45,762,941	I1065F	probably damaging	Het
Ppp1r3a	A	T	6: 14,721,875	N317K	possibly damaging	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Pum1	C	A	4: 130,669,270	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Reg3a	T	C	6: 78,381,136	C17R	possibly damaging	Het
Ripor2	A	G	13: 24,713,718	S800G	probably damaging	Het
Rnf168	T	G	16: 32,278,218	L37R	probably damaging	Het
Rnf31	A	G	14: 55,596,197	D554G	probably damaging	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Sacs	A	T	14: 61,212,316	Q3937L	probably damaging	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Slc20a1	T	G	2: 129,199,819	I34S	possibly damaging	Het
Slc25a30	A	G	14: 75,770,218	S116P	possibly damaging	Het
Speer4c	T	A	5: 15,714,117	D29V	possibly damaging	Het
Stk40	C	T	4: 126,128,847	T138I	probably benign	Het
Susd3	A	G	13: 49,231,150	Y254H	probably damaging	Het
Tanc2	T	C	11: 105,895,949	L858P	probably damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tfpt	C	T	7: 3,628,931	R60Q	probably damaging	Het
Tmem44	T	A	16: 30,547,444	K55*	probably null	Het
Tnfsf9	A	T	17: 57,107,316		probably null	Het
Ube3c	T	C	5: 29,619,606	I543T	probably benign	Het
Ugt1a2	C	A	1: 88,201,013	S126Y	possibly damaging	Het
Vmn1r180	T	A	7: 23,953,141	L243Q	probably damaging	Het
Vmn2r15	A	C	5: 109,286,456	V794G	probably damaging	Het
Vmn2r24	A	G	6: 123,815,394	D560G	possibly damaging	Het
Zfp318	A	G	17: 46,413,371	D2100G	probably benign	Het
Zfyve16	A	T	13: 92,519,483	Y789*	probably null	Het

Other mutations in Wdr11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Wdr11	APN	7	129593093	splice site	probably null
IGL01121:Wdr11	APN	7	129628022	missense	probably benign	0.02
IGL01385:Wdr11	APN	7	129607913	missense	probably benign
IGL01923:Wdr11	APN	7	129632322	critical splice acceptor site	probably null
IGL02274:Wdr11	APN	7	129631172	critical splice acceptor site	probably null
IGL02894:Wdr11	APN	7	129631166	splice site	probably benign
IGL02927:Wdr11	APN	7	129607098	critical splice donor site	probably null
IGL03008:Wdr11	APN	7	129606991	unclassified	probably benign
IGL03026:Wdr11	APN	7	129624336	missense	probably damaging	1.00
IGL03354:Wdr11	APN	7	129625302	missense	probably benign	0.01
IGL03379:Wdr11	APN	7	129599123	missense	probably damaging	1.00
Propeller	UTSW	7	129606675	missense	possibly damaging	0.91
R0003:Wdr11	UTSW	7	129599061	missense	probably damaging	1.00
R0928:Wdr11	UTSW	7	129606653	missense	probably damaging	1.00
R1170:Wdr11	UTSW	7	129607107	unclassified	probably benign
R1645:Wdr11	UTSW	7	129613889	missense	probably benign	0.29
R1908:Wdr11	UTSW	7	129605230	missense	possibly damaging	0.60
R1938:Wdr11	UTSW	7	129606607	missense	probably benign	0.08
R2148:Wdr11	UTSW	7	129629083	splice site	probably null
R2240:Wdr11	UTSW	7	129605694	critical splice acceptor site	probably null
R2362:Wdr11	UTSW	7	129634836	missense	probably benign	0.05
R3774:Wdr11	UTSW	7	129631693	splice site	probably null
R4297:Wdr11	UTSW	7	129625186	missense	probably benign	0.18
R4546:Wdr11	UTSW	7	129629005	missense	probably damaging	1.00
R4787:Wdr11	UTSW	7	129608934	splice site	probably benign
R4789:Wdr11	UTSW	7	129618670	nonsense	probably null
R4807:Wdr11	UTSW	7	129628022	missense	probably benign	0.02
R4855:Wdr11	UTSW	7	129600434	splice site	probably null
R4898:Wdr11	UTSW	7	129633721	missense	probably benign
R5022:Wdr11	UTSW	7	129624711	missense	probably benign	0.10
R5326:Wdr11	UTSW	7	129625249	missense	probably damaging	1.00
R5398:Wdr11	UTSW	7	129631232	missense	probably damaging	1.00
R6120:Wdr11	UTSW	7	129624791	missense	probably damaging	0.99
R6136:Wdr11	UTSW	7	129618703	missense	possibly damaging	0.86
R6280:Wdr11	UTSW	7	129599106	nonsense	probably null
R6352:Wdr11	UTSW	7	129606675	missense	possibly damaging	0.91
R6432:Wdr11	UTSW	7	129606518	missense	possibly damaging	0.83
R6766:Wdr11	UTSW	7	129624312	missense	probably benign	0.02
R6911:Wdr11	UTSW	7	129607095	missense	probably benign	0.28
R7135:Wdr11	UTSW	7	129628106	missense	possibly damaging	0.76
R7151:Wdr11	UTSW	7	129606652	missense	probably damaging	1.00
R7463:Wdr11	UTSW	7	129607086	missense	probably damaging	0.99
R7503:Wdr11	UTSW	7	129603110	missense	probably benign
R8097:Wdr11	UTSW	7	129607887	missense	probably damaging	1.00
R8254:Wdr11	UTSW	7	129634836	missense	probably benign	0.02
R8354:Wdr11	UTSW	7	129602999	missense	probably damaging	0.99
R8377:Wdr11	UTSW	7	129606688	missense	possibly damaging	0.56
R8416:Wdr11	UTSW	7	129630679	missense	possibly damaging	0.62
Z1177:Wdr11	UTSW	7	129607878	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAGTGAGTGCTGCCTGTG -3'
(R):5'- AAGCTCCGCTAACATGACTG -3'

Sequencing Primer
(F):5'- TGGGCTGGAGACTGACATCAC -3'
(R):5'- CAAGCAGCGCTAGTTTCCTGTAG -3'

Posted On

2014-09-17