Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Wdr3'

101262

Institutional Source

Beutler Lab

Gene Symbol

Wdr3

Ensembl Gene

ENSMUSG00000033285

Gene Name

WD repeat domain 3

Synonyms

D030020G18Rik

MMRRC Submission

039241-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R1168 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100138180-100162407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100142219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 800 (N800K)

Ref Sequence

ENSEMBL: ENSMUSP00000060613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052120] [ENSMUST00000164539]

AlphaFold

Q8BHB4

Predicted Effect

probably benign
Transcript: ENSMUST00000052120
AA Change: N800K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: N800K

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: ENSMUST00000129319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135812

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164539

SMART Domains

Protein: ENSMUSP00000134066
Gene: ENSMUSG00000027867

Domain	Start	End	E-Value	Type
low complexity region	155	170	N/A	INTRINSIC
low complexity region	384	400	N/A	INTRINSIC
low complexity region	876	887	N/A	INTRINSIC
coiled coil region	909	964	N/A	INTRINSIC
coiled coil region	1079	1120	N/A	INTRINSIC
low complexity region	1179	1190	N/A	INTRINSIC
low complexity region	1192	1205	N/A	INTRINSIC
low complexity region	1209	1220	N/A	INTRINSIC
low complexity region	1223	1238	N/A	INTRINSIC
low complexity region	1394	1405	N/A	INTRINSIC
low complexity region	1931	1942	N/A	INTRINSIC
Pfam:PapD-like	2171	2277	1.2e-15	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,900	V950A	probably benign	Het
4930452B06Rik	T	C	14: 8,442,939	N610S	probably benign	Het
Adgrb3	A	T	1: 25,826,199	S188T	probably benign	Het
Ahr	A	T	12: 35,504,532	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,583,837	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,384,631		probably null	Het
Alpk3	A	T	7: 81,103,357	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,273,396	H360Q	probably benign	Het
Cacna1a	A	G	8: 84,579,501	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,832,944	W72R	probably damaging	Het
Ces2e	A	T	8: 104,927,014	D28V	possibly damaging	Het
Cfap45	T	C	1: 172,545,697	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,937,920	C87S	probably damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Chrna4	T	A	2: 181,034,138	M67L	possibly damaging	Het
Cts7	T	A	13: 61,353,817	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,030,454	M94L	probably damaging	Het
Fam83d	C	T	2: 158,768,523	A137V	probably benign	Het
Foxd2	C	T	4: 114,907,678	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,250,246	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,704,469	D856E	probably damaging	Het
Gclm	T	A	3: 122,262,688	H86Q	possibly damaging	Het
Gipc2	T	C	3: 152,107,997	T220A	probably benign	Het
Gm12185	G	T	11: 48,915,355	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,895,364	S61R	probably benign	Het
Gm884	T	C	11: 103,618,950		probably benign	Het
Gorasp2	C	T	2: 70,688,400	P260S	probably damaging	Het
H2-M10.6	A	G	17: 36,813,160	Q172R	probably benign	Het
Ibsp	A	G	5: 104,302,152	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,689,676	Y593C	probably damaging	Het
Itln1	G	T	1: 171,531,551	Y61*	probably null	Het
Kif21a	G	A	15: 90,993,753	T284I	probably damaging	Het
Kif3a	G	A	11: 53,598,312	G621R	probably damaging	Het
Klb	A	G	5: 65,378,974	Y549C	probably damaging	Het
Lman1l	G	A	9: 57,608,312	R427C	probably benign	Het
Map4	T	C	9: 110,034,964	V419A	probably benign	Het
Mastl	A	T	2: 23,133,132	D526E	probably benign	Het
Mrvi1	T	C	7: 110,895,931	K429R	probably damaging	Het
Mtif2	A	G	11: 29,536,914	D308G	probably benign	Het
Ncald	A	G	15: 37,397,334	F34S	probably damaging	Het
Ndc1	A	G	4: 107,395,812	T593A	probably benign	Het
Ndst3	C	T	3: 123,606,968	V15I	probably benign	Het
Nup214	A	G	2: 32,025,301	N1166D	probably benign	Het
Olfr1031	A	T	2: 85,992,684	Y289F	probably damaging	Het
Olfr1240	G	A	2: 89,439,869	Q137*	probably null	Het
Olfr1368	A	G	13: 21,142,617	S147P	probably benign	Het
Olfr403	A	G	11: 74,196,421	H306R	probably benign	Het
Pcdhb8	T	C	18: 37,356,727	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,770,271	Y768F	probably benign	Het
Pgf	A	G	12: 85,171,767	S70P	probably benign	Het
Plcl2	G	A	17: 50,607,072	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,862,537	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prag1	A	G	8: 36,146,645	E1117G	probably damaging	Het
Prr12	T	A	7: 45,029,047	Q1919L	unknown	Het
Ret	G	T	6: 118,173,558	H666N	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Robo2	C	T	16: 73,948,296	G864S	probably damaging	Het
Rpa2	T	G	4: 132,771,860	I80S	probably damaging	Het
Ryk	A	T	9: 102,898,475	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,590,278	N30K	probably damaging	Het
Stbd1	A	G	5: 92,604,936	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,292,134	E212G	probably benign	Het
Tex14	A	G	11: 87,536,742	T7A	probably benign	Het
Tmc8	T	C	11: 117,792,563	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,787,019	V730F	probably damaging	Het
Tmub2	G	A	11: 102,287,370	G33D	possibly damaging	Het
Trak1	G	A	9: 121,440,679	D124N	probably damaging	Het
Ttc28	A	T	5: 111,231,111	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,909,369	T3609A	probably benign	Het
Tulp2	A	G	7: 45,517,842	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,465,568		probably null	Het
Ush2a	G	A	1: 188,678,411	V2419I	probably benign	Het
Vill	C	A	9: 119,070,321	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 85,006,854	H318L	possibly damaging	Het
Wdr93	A	G	7: 79,749,174	K19E	probably damaging	Het
Wrn	A	G	8: 33,316,408	S333P	probably damaging	Het
Zfp418	T	C	7: 7,182,501	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,256,697	E290G	probably benign	Het

Other mutations in Wdr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Wdr3	APN	3	100148108	missense	probably damaging	1.00
IGL00706:Wdr3	APN	3	100148100	unclassified	probably benign
IGL01391:Wdr3	APN	3	100146789	unclassified	probably benign
IGL02008:Wdr3	APN	3	100150982	missense	probably damaging	0.97
IGL02136:Wdr3	APN	3	100138725	nonsense	probably null
IGL02215:Wdr3	APN	3	100146700	critical splice donor site	probably null
IGL02505:Wdr3	APN	3	100151974	missense	probably benign
IGL03412:Wdr3	APN	3	100151977	missense	probably benign	0.00
R0241:Wdr3	UTSW	3	100145657	missense	probably damaging	1.00
R0241:Wdr3	UTSW	3	100145657	missense	probably damaging	1.00
R0369:Wdr3	UTSW	3	100156418	nonsense	probably null
R0865:Wdr3	UTSW	3	100152796	unclassified	probably benign
R0966:Wdr3	UTSW	3	100161069	missense	probably damaging	0.99
R1612:Wdr3	UTSW	3	100151199	splice site	probably benign
R1768:Wdr3	UTSW	3	100153870	missense	probably benign
R2060:Wdr3	UTSW	3	100159897	splice site	probably null
R3793:Wdr3	UTSW	3	100151965	missense	probably benign	0.02
R3888:Wdr3	UTSW	3	100153906	missense	probably benign
R4410:Wdr3	UTSW	3	100140227	missense	probably benign
R4596:Wdr3	UTSW	3	100152867	missense	possibly damaging	0.95
R4609:Wdr3	UTSW	3	100140200	missense	probably damaging	1.00
R4817:Wdr3	UTSW	3	100146545	missense	possibly damaging	0.71
R5016:Wdr3	UTSW	3	100141620	intron	probably benign
R5024:Wdr3	UTSW	3	100154936	missense	probably benign
R5411:Wdr3	UTSW	3	100142984	missense	probably damaging	1.00
R5430:Wdr3	UTSW	3	100157327	missense	possibly damaging	0.88
R5902:Wdr3	UTSW	3	100144491	unclassified	probably benign
R6177:Wdr3	UTSW	3	100161152	missense	probably damaging	0.97
R6445:Wdr3	UTSW	3	100156403	missense	possibly damaging	0.65
R6516:Wdr3	UTSW	3	100145676	missense	probably damaging	1.00
R6624:Wdr3	UTSW	3	100144326	missense	probably damaging	1.00
R6747:Wdr3	UTSW	3	100138724	missense	probably damaging	1.00
R6813:Wdr3	UTSW	3	100138725	nonsense	probably null
R6899:Wdr3	UTSW	3	100149901	missense	possibly damaging	0.90
R7024:Wdr3	UTSW	3	100154997	missense	probably benign	0.00
R7509:Wdr3	UTSW	3	100151187	missense	probably benign	0.03
R8008:Wdr3	UTSW	3	100154936	missense	probably benign
R8062:Wdr3	UTSW	3	100142494	missense	probably benign
R8241:Wdr3	UTSW	3	100149943	missense	probably damaging	1.00
R8840:Wdr3	UTSW	3	100149937	missense	probably damaging	0.99
R8944:Wdr3	UTSW	3	100149943	missense	probably damaging	1.00
R9235:Wdr3	UTSW	3	100146707	missense	probably benign	0.18
R9314:Wdr3	UTSW	3	100142972	missense	probably benign	0.00
R9544:Wdr3	UTSW	3	100143436	nonsense	probably null
X0012:Wdr3	UTSW	3	100145630	splice site	probably null
Z1088:Wdr3	UTSW	3	100144344	missense	probably benign	0.00

Predicted Primers

Posted On

2014-01-15