Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03008:Wdr11'

407683

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr11

Ensembl Gene

ENSMUSG00000042055

Gene Name

WD repeat domain 11

Synonyms

Brwd2, Wdr11

Accession Numbers

Is this an essential gene?

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

Stock #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

129591863-129635738 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 129606991 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

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	G	5: 107,491,598		probably null	Het
AF529169	A	G	9: 89,596,678	Y772H	probably damaging	Het
Aga	T	C	8: 53,511,826	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,730,284	M1I	probably null	Het
Ankrd44	T	C	1: 54,766,809	H146R	probably damaging	Het
Bst1	A	G	5: 43,826,262		probably null	Het
Cdh12	A	T	15: 21,480,330	I211F	probably damaging	Het
Cenpj	G	T	14: 56,526,949	D1335E	probably benign	Het
Clpx	G	A	9: 65,322,775	V502I	possibly damaging	Het
Cntnap4	T	C	8: 112,773,590	S505P	probably benign	Het
Cog2	T	C	8: 124,535,392		probably benign	Het
Cped1	A	G	6: 22,233,602	Q819R	probably benign	Het
Cspg4	A	G	9: 56,898,475	E2190G	possibly damaging	Het
Ctsa	G	A	2: 164,837,448	R359Q	probably damaging	Het
Cul9	A	G	17: 46,502,697		probably benign	Het
Dab1	G	T	4: 104,727,580	V306F	probably damaging	Het
Dysf	A	G	6: 84,073,894	I438V	probably benign	Het
Eif4g3	G	T	4: 138,120,388	G380W	probably damaging	Het
Exd1	T	A	2: 119,520,381	K466N	probably benign	Het
Eya3	A	C	4: 132,706,983	D325A	probably damaging	Het
Fmn1	A	G	2: 113,365,100	T382A	unknown	Het
Fry	T	A	5: 150,345,556	D106E	possibly damaging	Het
Gm21957	T	A	7: 125,219,561		noncoding transcript	Het
Gm44511	A	G	6: 128,784,096		probably benign	Het
Gm884	T	C	11: 103,620,467	E225G	unknown	Het
Itga4	A	G	2: 79,325,638	I983V	probably benign	Het
Lrpprc	A	T	17: 84,751,247	D5E	probably benign	Het
Ltbp4	G	T	7: 27,324,364	N747K	probably damaging	Het
Mlh3	T	C	12: 85,240,851	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,353,439	C63S	possibly damaging	Het
Myh11	T	A	16: 14,204,753	M1661L	probably benign	Het
Myo1c	T	C	11: 75,658,414	M137T	probably benign	Het
Myocd	A	C	11: 65,187,566	L340V	probably damaging	Het
Napsa	A	T	7: 44,585,796	Q335L	possibly damaging	Het
Nlrp4b	C	A	7: 10,714,589	Q240K	probably benign	Het
Npepps	A	C	11: 97,238,158	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,393,438	E275V	probably benign	Het
Ofd1	T	C	X: 166,409,534	D501G	probably benign	Het
Olfr1310	A	G	2: 112,008,523	I221T	possibly damaging	Het
Olfr228	A	T	2: 86,483,334	M136K	probably damaging	Het
Olfr507	T	G	7: 108,622,283	L157R	probably damaging	Het
Olfr525	T	C	7: 140,323,532	Y278H	probably damaging	Het
P2ry1	A	T	3: 61,003,526	T29S	probably benign	Het
Papss1	T	C	3: 131,585,099	V201A	possibly damaging	Het
Paxip1	A	G	5: 27,752,766	V864A	probably benign	Het
Pcdhgc5	T	A	18: 37,821,834	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,876,159	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,653,864	I27T	probably damaging	Het
Rnf10	G	T	5: 115,251,296	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,562,511	S246P	probably damaging	Het
Sertad2	G	T	11: 20,647,798		probably benign	Het
Slc22a27	A	G	19: 7,909,702	I274T	possibly damaging	Het
Slc22a5	A	T	11: 53,891,232	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,890,941	F225I	probably benign	Het
Slc6a3	G	A	13: 73,558,285		probably null	Het
Smcr8	A	G	11: 60,778,461	E145G	probably damaging	Het
Spen	A	T	4: 141,476,137	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Stag1	A	T	9: 100,776,791	N144Y	probably damaging	Het
Strada	T	C	11: 106,170,957	H156R	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tas2r138	A	C	6: 40,613,182	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,826,335	K106*	probably null	Het
Trbv13-1	A	G	6: 41,116,295	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,247,695	V218A	probably benign	Het
Ttn	G	A	2: 76,780,859	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,412,423	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,257,646	M168V	probably benign	Het
Wipf2	T	C	11: 98,892,728		probably benign	Het
Zranb2	T	A	3: 157,546,665		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
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	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

Posted On

2016-08-02