Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Wdr3'

296262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr3

Ensembl Gene

ENSMUSG00000033285

Gene Name

WD repeat domain 3

Synonyms

D030020G18Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

100045496-100069723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100059290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 343 (S343N)

Ref Sequence

ENSEMBL: ENSMUSP00000060613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052120]

AlphaFold

Q8BHB4

Predicted Effect

probably benign
Transcript: ENSMUST00000052120
AA Change: S343N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: S343N

Domain	Start	End	E-Value	Type
Blast:WD40	12	51	3e-16	BLAST
WD40	54	93	3.14e-6	SMART
WD40	96	135	1.04e-6	SMART
WD40	138	177	1.15e-4	SMART
WD40	180	219	4.24e-3	SMART
low complexity region	225	239	N/A	INTRINSIC
Blast:WD40	267	307	3e-18	BLAST
low complexity region	316	331	N/A	INTRINSIC
WD40	403	441	8.49e-3	SMART
WD40	444	481	1.71e1	SMART
WD40	484	523	2.1e-7	SMART
WD40	538	576	1.2e-2	SMART
WD40	579	618	2.45e-8	SMART
WD40	621	660	5.47e-6	SMART
WD40	663	702	1.03e-10	SMART
low complexity region	711	724	N/A	INTRINSIC
Pfam:Utp12	803	906	6.4e-25	PFAM
low complexity region	927	936	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146989

SMART Domains

Protein: ENSMUSP00000134945
Gene: ENSMUSG00000033285

Domain	Start	End	E-Value	Type
Blast:WD40	12	51	1e-18	BLAST

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 nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,524,096 (GRCm39)	L68M	probably damaging	Het
Abca13	T	G	11: 9,531,498 (GRCm39)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,076,105 (GRCm39)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,395,166 (GRCm39)	A252E	probably damaging	Het
Ap1b1	C	T	11: 4,981,700 (GRCm39)	A536V	probably benign	Het
Arhgef3	A	G	14: 27,115,957 (GRCm39)	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,238,320 (GRCm39)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,062,642 (GRCm39)	V622M	probably damaging	Het
Aup1	A	G	6: 83,032,258 (GRCm39)	T142A	probably benign	Het
Bcl6	A	T	16: 23,796,319 (GRCm39)	I36N	probably damaging	Het
Best1	A	G	19: 9,966,514 (GRCm39)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 97,780,403 (GRCm39)	E322D	possibly damaging	Het
Cd300ld2	A	T	11: 114,904,513 (GRCm39)	M118K	probably benign	Het
Cdh9	T	C	15: 16,856,075 (GRCm39)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,709,504 (GRCm39)	N436K	probably damaging	Het
Chil6	T	A	3: 106,313,278 (GRCm39)	I24F	probably benign	Het
Chmp2a	T	A	7: 12,767,782 (GRCm39)	K48*	probably null	Het
Col19a1	C	T	1: 24,339,665 (GRCm39)		probably benign	Het
Cops7b	C	A	1: 86,520,043 (GRCm39)	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,349,069 (GRCm39)	L133H	probably damaging	Het
Dkc1	T	C	X: 74,152,339 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,900,767 (GRCm39)	Y134H	probably damaging	Het
F8	C	A	X: 74,423,204 (GRCm39)		probably benign	Het
Fus	G	A	7: 127,580,679 (GRCm39)	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gm15821	T	C	17: 34,433,259 (GRCm39)		probably benign	Het
Gm5117	C	A	8: 32,228,344 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,152 (GRCm39)	I45V	probably benign	Het
Hectd1	A	G	12: 51,847,496 (GRCm39)		probably null	Het
Ifi204	T	C	1: 173,583,220 (GRCm39)	K333E	probably benign	Het
Ildr1	G	A	16: 36,536,526 (GRCm39)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,383,052 (GRCm39)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,214,331 (GRCm39)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,769,381 (GRCm39)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,474,207 (GRCm39)	I389T	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,143 (GRCm39)	V336A	probably damaging	Het
Mars1	C	A	10: 127,140,113 (GRCm39)	E414*	probably null	Het
Mpg	T	C	11: 32,180,042 (GRCm39)	V190A	probably damaging	Het
Myh15	A	G	16: 48,937,626 (GRCm39)	I742M	possibly damaging	Het
Nell2	A	T	15: 95,194,144 (GRCm39)		probably benign	Het
Nmur1	T	C	1: 86,314,057 (GRCm39)	D370G	probably benign	Het
Npsr1	A	G	9: 24,009,578 (GRCm39)	E28G	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or56a3	A	T	7: 104,735,540 (GRCm39)	I206L	probably benign	Het
Or7a42	G	T	10: 78,791,767 (GRCm39)	V243F	probably benign	Het
Or8b12c	G	A	9: 37,715,627 (GRCm39)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,128,899 (GRCm39)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 110,359,848 (GRCm39)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,907,139 (GRCm39)	K685N	probably damaging	Het
Prim1	T	A	10: 127,865,652 (GRCm39)	*419R	probably null	Het
Ptk2b	G	T	14: 66,391,692 (GRCm39)	N905K	probably damaging	Het
Rbm34	T	C	8: 127,676,071 (GRCm39)	I395V	probably benign	Het
Rfx1	A	G	8: 84,822,438 (GRCm39)	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936 (GRCm39)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,594,002 (GRCm39)	Y169H	possibly damaging	Het
Slc49a4	G	T	16: 35,555,928 (GRCm39)	D177E	probably benign	Het
Susd4	C	A	1: 182,719,645 (GRCm39)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,749,118 (GRCm39)	G676D	probably damaging	Het
Tec	T	C	5: 72,946,587 (GRCm39)	K47E	probably damaging	Het
Tenm2	C	A	11: 35,942,743 (GRCm39)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,784,629 (GRCm39)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,096,346 (GRCm39)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,710,378 (GRCm39)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,261,449 (GRCm39)	T296K	probably damaging	Het
Yju2	G	T	17: 56,269,051 (GRCm39)	G53V	probably damaging	Het
Zfp143	A	T	7: 109,690,993 (GRCm39)	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,580,626 (GRCm39)	I42V	probably benign	Het
Zswim5	A	T	4: 116,819,749 (GRCm39)	M385L	probably benign	Het

Other mutations in Wdr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Wdr3	APN	3	100,055,424 (GRCm39)	missense	probably damaging	1.00
IGL00706:Wdr3	APN	3	100,055,416 (GRCm39)	unclassified	probably benign
IGL01391:Wdr3	APN	3	100,054,105 (GRCm39)	unclassified	probably benign
IGL02008:Wdr3	APN	3	100,058,298 (GRCm39)	missense	probably damaging	0.97
IGL02136:Wdr3	APN	3	100,046,041 (GRCm39)	nonsense	probably null
IGL02215:Wdr3	APN	3	100,054,016 (GRCm39)	critical splice donor site	probably null
IGL03412:Wdr3	APN	3	100,059,293 (GRCm39)	missense	probably benign	0.00
R0241:Wdr3	UTSW	3	100,052,973 (GRCm39)	missense	probably damaging	1.00
R0241:Wdr3	UTSW	3	100,052,973 (GRCm39)	missense	probably damaging	1.00
R0369:Wdr3	UTSW	3	100,063,734 (GRCm39)	nonsense	probably null
R0865:Wdr3	UTSW	3	100,060,112 (GRCm39)	unclassified	probably benign
R0966:Wdr3	UTSW	3	100,068,385 (GRCm39)	missense	probably damaging	0.99
R1168:Wdr3	UTSW	3	100,049,535 (GRCm39)	missense	probably benign	0.11
R1612:Wdr3	UTSW	3	100,058,515 (GRCm39)	splice site	probably benign
R1768:Wdr3	UTSW	3	100,061,186 (GRCm39)	missense	probably benign
R2060:Wdr3	UTSW	3	100,067,213 (GRCm39)	splice site	probably null
R3793:Wdr3	UTSW	3	100,059,281 (GRCm39)	missense	probably benign	0.02
R3888:Wdr3	UTSW	3	100,061,222 (GRCm39)	missense	probably benign
R4410:Wdr3	UTSW	3	100,047,543 (GRCm39)	missense	probably benign
R4596:Wdr3	UTSW	3	100,060,183 (GRCm39)	missense	possibly damaging	0.95
R4609:Wdr3	UTSW	3	100,047,516 (GRCm39)	missense	probably damaging	1.00
R4817:Wdr3	UTSW	3	100,053,861 (GRCm39)	missense	possibly damaging	0.71
R5016:Wdr3	UTSW	3	100,048,936 (GRCm39)	intron	probably benign
R5024:Wdr3	UTSW	3	100,062,252 (GRCm39)	missense	probably benign
R5411:Wdr3	UTSW	3	100,050,300 (GRCm39)	missense	probably damaging	1.00
R5430:Wdr3	UTSW	3	100,064,643 (GRCm39)	missense	possibly damaging	0.88
R5902:Wdr3	UTSW	3	100,051,807 (GRCm39)	unclassified	probably benign
R6177:Wdr3	UTSW	3	100,068,468 (GRCm39)	missense	probably damaging	0.97
R6445:Wdr3	UTSW	3	100,063,719 (GRCm39)	missense	possibly damaging	0.65
R6516:Wdr3	UTSW	3	100,052,992 (GRCm39)	missense	probably damaging	1.00
R6624:Wdr3	UTSW	3	100,051,642 (GRCm39)	missense	probably damaging	1.00
R6747:Wdr3	UTSW	3	100,046,040 (GRCm39)	missense	probably damaging	1.00
R6813:Wdr3	UTSW	3	100,046,041 (GRCm39)	nonsense	probably null
R6899:Wdr3	UTSW	3	100,057,217 (GRCm39)	missense	possibly damaging	0.90
R7024:Wdr3	UTSW	3	100,062,313 (GRCm39)	missense	probably benign	0.00
R7509:Wdr3	UTSW	3	100,058,503 (GRCm39)	missense	probably benign	0.03
R8008:Wdr3	UTSW	3	100,062,252 (GRCm39)	missense	probably benign
R8062:Wdr3	UTSW	3	100,049,810 (GRCm39)	missense	probably benign
R8241:Wdr3	UTSW	3	100,057,259 (GRCm39)	missense	probably damaging	1.00
R8840:Wdr3	UTSW	3	100,057,253 (GRCm39)	missense	probably damaging	0.99
R8944:Wdr3	UTSW	3	100,057,259 (GRCm39)	missense	probably damaging	1.00
R9235:Wdr3	UTSW	3	100,054,023 (GRCm39)	missense	probably benign	0.18
R9314:Wdr3	UTSW	3	100,050,288 (GRCm39)	missense	probably benign	0.00
R9544:Wdr3	UTSW	3	100,050,752 (GRCm39)	nonsense	probably null
X0012:Wdr3	UTSW	3	100,052,946 (GRCm39)	splice site	probably null
Z1088:Wdr3	UTSW	3	100,051,660 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16