Mutagenetix > Incidental Mutations

Incidental Mutation 'R4787:Wdr11'

367182

Institutional Source

Beutler Lab

Gene Symbol

Wdr11

Ensembl Gene

ENSMUSG00000042055

Gene Name

WD repeat domain 11

Synonyms

Brwd2, Wdr11

MMRRC Submission

041975-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R4787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129591863-129635738 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 129608934 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000084519

SMART Domains

Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055

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

noncoding transcript
Transcript: ENSMUST00000136734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143849

Predicted Effect

probably benign
Transcript: ENSMUST00000148752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149541

Predicted Effect

probably benign
Transcript: ENSMUST00000206442

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (72/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 72,445,164	Y138*	probably null	Het
4933440M02Rik	T	C	7: 125,331,542		noncoding transcript	Het
Amy2b	T	C	3: 113,151,318		noncoding transcript	Het
Anxa1	T	A	19: 20,373,754	D334V	probably damaging	Het
Atoh8	T	C	6: 72,223,777	T310A	possibly damaging	Het
BC002059	G	A	17: 16,973,548		noncoding transcript	Het
C87499	T	A	4: 88,629,213	K74*	probably null	Het
Ccdc40	A	G	11: 119,253,621	D924G	possibly damaging	Het
Ccm2l	A	T	2: 153,079,502	M433L	probably benign	Het
Cd209e	T	C	8: 3,851,181	S158G	probably null	Het
Cdkn2a	C	T	4: 89,276,718	R153H	unknown	Het
Cfap69	A	G	5: 5,646,934		probably null	Het
Col6a5	T	C	9: 105,931,081	T923A	unknown	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Ddrgk1	A	G	2: 130,658,328	F216S	probably damaging	Het
Dysf	T	A	6: 84,203,328	C1995*	probably null	Het
Epb41l5	G	A	1: 119,595,995	P467S	probably benign	Het
Extl1	G	A	4: 134,364,667	L292F	probably damaging	Het
Fsd1	A	G	17: 55,996,257	N409D	possibly damaging	Het
Gm15455	A	T	1: 33,837,722		noncoding transcript	Het
Gm5514	C	A	19: 21,938,237		noncoding transcript	Het
Gm8894	A	G	14: 55,420,715		noncoding transcript	Het
Gm8979	T	C	7: 106,081,834		noncoding transcript	Het
Gtf3c2	C	T	5: 31,157,577	S942N	probably benign	Het
H2-Ab1	A	T	17: 34,267,467	T167S	possibly damaging	Het
Ighv8-9	C	T	12: 115,468,514	R59H	probably damaging	Het
Igsf9b	G	A	9: 27,317,456	V171I	probably benign	Het
Il31ra	C	T	13: 112,527,545	E533K	possibly damaging	Het
Iqgap1	A	C	7: 80,735,513	L1022R	probably damaging	Het
Kcna4	T	C	2: 107,296,468	F516L	probably damaging	Het
Kmt2e	A	G	5: 23,463,083	T47A	possibly damaging	Het
L3mbtl2	A	G	15: 81,663,974		probably benign	Het
Lipo1	T	A	19: 33,780,349	Q240L	probably benign	Het
Lpar5	A	G	6: 125,082,498		probably null	Het
Lrrk2	A	G	15: 91,712,828	D541G	probably benign	Het
Med9	T	A	11: 59,948,440	N58K	probably benign	Het
Meig1	A	G	2: 3,409,214	V83A	possibly damaging	Het
Natd1	A	C	11: 60,906,996	C34W	probably damaging	Het
Nup205	T	A	6: 35,202,061	C689S	probably damaging	Het
Olfr1161	T	C	2: 88,024,860	M46T	possibly damaging	Het
Olfr1199	T	A	2: 88,755,875	K267*	probably null	Het
Olfr2	G	A	7: 107,001,086	A258V	probably benign	Het
Olfr654	T	C	7: 104,587,960	M52T	probably benign	Het
Pdgfrb	A	C	18: 61,079,687	S888R	probably damaging	Het
Plppr4	T	C	3: 117,322,330	E626G	probably damaging	Het
Ppfia3	C	A	7: 45,340,626	A1159S	possibly damaging	Het
Prex1	A	G	2: 166,638,340	V160A	probably benign	Het
Psmb7	C	T	2: 38,588,271	C247Y	probably benign	Het
Rbm33	C	T	5: 28,342,437		probably null	Het
Rfc5	T	C	5: 117,382,420	T236A	probably benign	Het
Sdk1	G	T	5: 141,582,413	R122L	probably benign	Het
Sh3bp1	T	C	15: 78,907,995	S451P	possibly damaging	Het
Smap1	G	T	1: 23,849,266		probably benign	Het
Smc2	T	A	4: 52,462,927	V639E	probably damaging	Het
Synpo2l	T	A	14: 20,661,697	Q511L	possibly damaging	Het
Taok2	G	A	7: 126,868,132	S167L	possibly damaging	Het
Tbc1d17	G	A	7: 44,843,064	P392S	probably benign	Het
Tef	T	A	15: 81,823,557	I261N	probably damaging	Het
Tmbim1	T	C	1: 74,295,360	N14D	possibly damaging	Het
Tmprss11c	T	C	5: 86,256,453	K121R	probably benign	Het
Trim36	C	A	18: 46,172,532	M461I	probably benign	Het
Trpc1	T	A	9: 95,721,415	M355L	probably benign	Het
Tspyl4	A	C	10: 34,297,764	D84A	probably benign	Het
Twf1	G	T	15: 94,584,434	P144T	probably damaging	Het
Ugt1a7c	T	C	1: 88,095,670	C184R	probably damaging	Het
Unc79	C	T	12: 103,046,998	P283S	probably damaging	Het
Usp45	T	C	4: 21,796,860	C49R	probably benign	Het
Wdr27	A	T	17: 14,932,554	M97K	possibly damaging	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
R2122:Wdr11	UTSW	7	129631766	missense	probably damaging	1.00
R2148:Wdr11	UTSW	7	129629083	intron	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
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

Predicted Primers

PCR Primer
(F):5'- ACCCCGTTCTGATAAGGATGG -3'
(R):5'- TTCCAGTGAGAAAAGAACCTGG -3'

Sequencing Primer
(F):5'- AATCTGGATGCTTTTGTGGAAGATAG -3'
(R):5'- ACCTGGAATTAGGAGAAATCCAC -3'

Posted On

2015-12-29