Mutagenetix > Incidental Mutation

Incidental Mutation 'R4410:Wdr3'

327849

Institutional Source

Beutler Lab

Gene Symbol

Wdr3

Ensembl Gene

ENSMUSG00000033285

Gene Name

WD repeat domain 3

Synonyms

D030020G18Rik

MMRRC Submission

041692-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R4410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100138180-100162407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100140227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 844 (T844M)

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: T844M

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

SMART Domains

Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: T844M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (46/48)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,725,512		probably benign	Het
Arrb1	G	T	7: 99,598,296		probably benign	Het
Cadps	A	G	14: 12,822,323	M139T	probably damaging	Het
Casr	A	G	16: 36,500,341	C482R	probably benign	Het
Cdca4	A	T	12: 112,821,879	H76Q	probably benign	Het
Ddias	A	G	7: 92,858,079	L876P	probably benign	Het
Dnah9	T	C	11: 66,085,477	S1249G	possibly damaging	Het
Dnttip1	A	G	2: 164,767,819		probably benign	Het
Eme2	A	G	17: 24,893,624	S160P	probably benign	Het
Fbxw24	A	T	9: 109,608,188	D210E	probably damaging	Het
Folr2	T	C	7: 101,840,674	E129G	probably damaging	Het
Gm7682	A	T	5: 94,445,861	Q15L	probably benign	Het
Herc6	T	A	6: 57,659,679	N793K	possibly damaging	Het
Iqcg	T	G	16: 33,030,816	K262Q	possibly damaging	Het
Lhfpl3	A	G	5: 22,775,692		probably benign	Het
Lmod2	A	C	6: 24,604,630	S535R	probably damaging	Het
Lrp1b	T	A	2: 40,665,082	S342C	possibly damaging	Het
Lrrn3	T	A	12: 41,452,584	Y578F	possibly damaging	Het
Map3k4	T	A	17: 12,248,998	R1050W	probably damaging	Het
Mpp6	C	T	6: 50,198,268	Q520*	probably null	Het
Muc6	T	A	7: 141,637,663	T2301S	possibly damaging	Het
Mycbp2	T	C	14: 103,135,266	E4048G	probably damaging	Het
Myh3	G	C	11: 67,085,032	E297Q	possibly damaging	Het
Nkain3	A	G	4: 20,778,284	V11A	probably benign	Het
Olfr1189	G	A	2: 88,592,421	V206I	probably benign	Het
P3h2	G	C	16: 26,105,290	R132G	possibly damaging	Het
Phgdh	A	G	3: 98,314,275	M447T	probably benign	Het
Pmfbp1	G	A	8: 109,532,063	A667T	probably benign	Het
Psmd2	T	G	16: 20,655,026	C230G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Slc37a3	T	A	6: 39,338,813	Y443F	probably benign	Het
Sorl1	C	A	9: 42,003,992	G1314*	probably null	Het
Spag7	T	C	11: 70,664,862	D83G	probably damaging	Het
St7	C	T	6: 17,854,933	R267*	probably null	Het
Syne2	C	T	12: 76,094,393	S99L	probably damaging	Het
Tacc2	T	G	7: 130,742,211	S2533R	possibly damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Uaca	T	G	9: 60,869,891	V518G	probably damaging	Het
Usp43	T	C	11: 67,855,890	E992G	probably benign	Het
Vmn1r55	A	G	7: 5,147,076	V116A	probably benign	Het
Wdr7	T	A	18: 63,778,249	M904K	probably damaging	Het
Zbtb39	A	G	10: 127,742,827	I423M	possibly damaging	Het
Zmym1	A	T	4: 127,048,104	C830*	probably null	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
R1168:Wdr3	UTSW	3	100142219	missense	probably benign	0.11
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
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

PCR Primer
(F):5'- CCAGCAGGATCCTTGTTTTAAAG -3'
(R):5'- AACTCTGAGTGGACAGAATTCAC -3'

Sequencing Primer
(F):5'- CAGGATCCTTGTTTTAAAGGCAGG -3'
(R):5'- CTCTGAGTGGACAGAATTCACAAAAG -3'

Posted On

2015-07-07