Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02274:Wdr11'

287292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr11

Ensembl Gene

ENSMUSG00000042055

Gene Name

WD repeat domain 11

Synonyms

Wdr11, Brwd2, 2900055P10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

IGL02274

Quality Score

Status

Chromosome

Chromosomal Location

129193587-129237462 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 129232896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081567 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef10	A	G	8: 14,997,205 (GRCm39)	D48G	probably damaging	Het
Asnsd1	T	C	1: 53,386,734 (GRCm39)	I298V	probably benign	Het
Cacna2d3	G	T	14: 28,678,827 (GRCm39)		probably null	Het
Cbs	T	C	17: 31,844,922 (GRCm39)		probably null	Het
Ccm2	C	A	11: 6,540,808 (GRCm39)	T216K	probably damaging	Het
Galc	C	T	12: 98,220,473 (GRCm39)	W131*	probably null	Het
Gemin5	T	C	11: 58,047,621 (GRCm39)	R318G	possibly damaging	Het
Gsta3	T	G	1: 21,320,012 (GRCm39)	V6G	possibly damaging	Het
Hdlbp	A	T	1: 93,336,229 (GRCm39)		probably null	Het
Igkv13-55-1	T	G	6: 69,577,132 (GRCm39)		noncoding transcript	Het
Il17rd	A	G	14: 26,821,867 (GRCm39)	Y387C	probably damaging	Het
Katnip	A	G	7: 125,369,742 (GRCm39)		probably null	Het
Kmt2e	C	T	5: 23,705,758 (GRCm39)	T1344I	probably benign	Het
L3mbtl4	A	C	17: 69,071,579 (GRCm39)	H502P	probably benign	Het
Lrig1	A	T	6: 94,640,919 (GRCm39)	N95K	possibly damaging	Het
Neurl2	G	T	2: 164,675,012 (GRCm39)	R117S	probably damaging	Het
Nos1	G	A	5: 118,035,845 (GRCm39)	A449T	probably damaging	Het
Noxa1	A	T	2: 24,975,767 (GRCm39)	V435E	probably benign	Het
Parp9	C	T	16: 35,768,317 (GRCm39)	R166W	probably damaging	Het
Pdzd2	A	G	15: 12,445,735 (GRCm39)	I158T	probably damaging	Het
Pip5k1c	T	C	10: 81,142,218 (GRCm39)	Y143H	probably damaging	Het
Qrfpr	A	G	3: 36,276,285 (GRCm39)	V35A	probably damaging	Het
Rab3gap1	T	G	1: 127,866,817 (GRCm39)	S881A	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Scai	G	A	2: 38,992,329 (GRCm39)		probably benign	Het
Skic2	T	A	17: 35,064,839 (GRCm39)	I418F	probably damaging	Het
Tenm4	A	C	7: 96,503,941 (GRCm39)	H1300P	probably damaging	Het
Tmppe	A	G	9: 114,234,499 (GRCm39)	H266R	probably benign	Het
Xirp2	A	G	2: 67,338,995 (GRCm39)	E412G	probably benign	Het
Zan	A	G	5: 137,419,429 (GRCm39)	V2910A	unknown	Het

Other mutations in Wdr11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Wdr11	APN	7	129,194,817 (GRCm39)	splice site	probably null
IGL01121:Wdr11	APN	7	129,229,746 (GRCm39)	missense	probably benign	0.02
IGL01385:Wdr11	APN	7	129,209,637 (GRCm39)	missense	probably benign
IGL01923:Wdr11	APN	7	129,234,046 (GRCm39)	critical splice acceptor site	probably null
IGL02894:Wdr11	APN	7	129,232,890 (GRCm39)	splice site	probably benign
IGL02927:Wdr11	APN	7	129,208,822 (GRCm39)	critical splice donor site	probably null
IGL03008:Wdr11	APN	7	129,208,715 (GRCm39)	unclassified	probably benign
IGL03026:Wdr11	APN	7	129,226,060 (GRCm39)	missense	probably damaging	1.00
IGL03354:Wdr11	APN	7	129,227,026 (GRCm39)	missense	probably benign	0.01
IGL03379:Wdr11	APN	7	129,200,847 (GRCm39)	missense	probably damaging	1.00
beeline	UTSW	7	129,207,437 (GRCm39)	nonsense	probably null
bekummernis	UTSW	7	129,226,451 (GRCm39)	missense	probably damaging	0.97
hort	UTSW	7	129,232,523 (GRCm39)	critical splice donor site	probably null
Knees	UTSW	7	129,236,560 (GRCm39)	missense	probably benign	0.02
Propeller	UTSW	7	129,208,399 (GRCm39)	missense	possibly damaging	0.91
Zuversicht	UTSW	7	129,208,264 (GRCm39)	missense	probably benign	0.13
R0003:Wdr11	UTSW	7	129,200,785 (GRCm39)	missense	probably damaging	1.00
R0928:Wdr11	UTSW	7	129,208,377 (GRCm39)	missense	probably damaging	1.00
R1170:Wdr11	UTSW	7	129,208,831 (GRCm39)	unclassified	probably benign
R1645:Wdr11	UTSW	7	129,215,613 (GRCm39)	missense	probably benign	0.29
R1908:Wdr11	UTSW	7	129,206,954 (GRCm39)	missense	possibly damaging	0.60
R1938:Wdr11	UTSW	7	129,208,331 (GRCm39)	missense	probably benign	0.08
R2122:Wdr11	UTSW	7	129,233,490 (GRCm39)	missense	probably damaging	1.00
R2148:Wdr11	UTSW	7	129,230,807 (GRCm39)	splice site	probably null
R2240:Wdr11	UTSW	7	129,207,418 (GRCm39)	critical splice acceptor site	probably null
R2362:Wdr11	UTSW	7	129,236,560 (GRCm39)	missense	probably benign	0.05
R3774:Wdr11	UTSW	7	129,233,417 (GRCm39)	splice site	probably null
R4297:Wdr11	UTSW	7	129,226,910 (GRCm39)	missense	probably benign	0.18
R4546:Wdr11	UTSW	7	129,230,729 (GRCm39)	missense	probably damaging	1.00
R4787:Wdr11	UTSW	7	129,210,658 (GRCm39)	splice site	probably benign
R4789:Wdr11	UTSW	7	129,220,394 (GRCm39)	nonsense	probably null
R4807:Wdr11	UTSW	7	129,229,746 (GRCm39)	missense	probably benign	0.02
R4855:Wdr11	UTSW	7	129,202,158 (GRCm39)	splice site	probably null
R4898:Wdr11	UTSW	7	129,235,445 (GRCm39)	missense	probably benign
R5022:Wdr11	UTSW	7	129,226,435 (GRCm39)	missense	probably benign	0.10
R5326:Wdr11	UTSW	7	129,226,973 (GRCm39)	missense	probably damaging	1.00
R5398:Wdr11	UTSW	7	129,232,956 (GRCm39)	missense	probably damaging	1.00
R6120:Wdr11	UTSW	7	129,226,515 (GRCm39)	missense	probably damaging	0.99
R6136:Wdr11	UTSW	7	129,220,427 (GRCm39)	missense	possibly damaging	0.86
R6280:Wdr11	UTSW	7	129,200,830 (GRCm39)	nonsense	probably null
R6352:Wdr11	UTSW	7	129,208,399 (GRCm39)	missense	possibly damaging	0.91
R6432:Wdr11	UTSW	7	129,208,242 (GRCm39)	missense	possibly damaging	0.83
R6766:Wdr11	UTSW	7	129,226,036 (GRCm39)	missense	probably benign	0.02
R6911:Wdr11	UTSW	7	129,208,819 (GRCm39)	missense	probably benign	0.28
R7135:Wdr11	UTSW	7	129,229,830 (GRCm39)	missense	possibly damaging	0.76
R7151:Wdr11	UTSW	7	129,208,376 (GRCm39)	missense	probably damaging	1.00
R7463:Wdr11	UTSW	7	129,208,810 (GRCm39)	missense	probably damaging	0.99
R7503:Wdr11	UTSW	7	129,204,834 (GRCm39)	missense	probably benign
R8097:Wdr11	UTSW	7	129,209,611 (GRCm39)	missense	probably damaging	1.00
R8254:Wdr11	UTSW	7	129,236,560 (GRCm39)	missense	probably benign	0.02
R8354:Wdr11	UTSW	7	129,204,723 (GRCm39)	missense	probably damaging	0.99
R8377:Wdr11	UTSW	7	129,208,412 (GRCm39)	missense	possibly damaging	0.56
R8416:Wdr11	UTSW	7	129,232,403 (GRCm39)	missense	possibly damaging	0.62
R8708:Wdr11	UTSW	7	129,200,780 (GRCm39)	missense	probably benign	0.07
R8896:Wdr11	UTSW	7	129,207,437 (GRCm39)	nonsense	probably null
R9092:Wdr11	UTSW	7	129,226,451 (GRCm39)	missense	probably damaging	0.97
R9136:Wdr11	UTSW	7	129,204,816 (GRCm39)	missense
R9315:Wdr11	UTSW	7	129,208,264 (GRCm39)	missense	probably benign	0.13
R9343:Wdr11	UTSW	7	129,232,523 (GRCm39)	critical splice donor site	probably null
R9663:Wdr11	UTSW	7	129,210,647 (GRCm39)	missense	probably damaging	1.00
R9771:Wdr11	UTSW	7	129,206,851 (GRCm39)	missense	probably damaging	1.00
Z1177:Wdr11	UTSW	7	129,209,602 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16