Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Wdr3'

530569

Institutional Source

Beutler Lab

Gene Symbol

Wdr3

Ensembl Gene

ENSMUSG00000033285

Gene Name

WD repeat domain 3

Synonyms

D030020G18Rik

MMRRC Submission

044864-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100138180-100162407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100138724 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 931 (R931Q)

Ref Sequence

ENSEMBL: ENSMUSP00000060613 (fasta)

Gene Model

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

AlphaFold

Q8BHB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000052120
AA Change: R931Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: R931Q

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 122,126,313		probably null	Het
Acyp1	C	T	12: 85,278,905	V107I	probably null	Het
Aftph	T	C	11: 20,726,144		probably null	Het
Agtpbp1	A	T	13: 59,544,353		probably null	Het
Arhgap15	C	A	2: 44,116,677	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,407,729	V557A	probably damaging	Het
Asb3	T	A	11: 31,081,493	M410K	probably benign	Het
B4galnt2	T	C	11: 95,868,634		probably null	Het
Birc3	A	G	9: 7,860,261		probably null	Het
Cav2	A	T	6: 17,286,951	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,795,667	C826Y	probably benign	Het
Cenpf	T	A	1: 189,652,854	T2410S	probably benign	Het
Chchd1	A	G	14: 20,703,380	D24G	probably benign	Het
Cmip	G	A	8: 117,436,879	G450S	probably benign	Het
Col11a1	C	T	3: 114,212,450	Q534*	probably null	Het
Col3a1	G	T	1: 45,338,622		probably benign	Het
Cox4i1	T	C	8: 120,673,230	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,646,767	V168F	probably damaging	Het
Dapk1	T	C	13: 60,725,340	I352T	probably benign	Het
Ddx52	T	C	11: 83,955,302	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,416,088	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,636,062	T369A	probably benign	Het
Dppa1	T	A	11: 46,625,595	I8F	unknown	Het
Ebf1	G	T	11: 44,883,814	V213F	probably damaging	Het
Foxb2	C	A	19: 16,872,833	E270*	probably null	Het
Gclc	A	T	9: 77,788,245	R450W	probably damaging	Het
Gm13128	T	C	4: 144,332,978	W420R	probably benign	Het
Grin2d	T	C	7: 45,862,268	E251G	probably damaging	Het
Hal	A	T	10: 93,500,677	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,780,091	I185F	unknown	Het
Lrp3	T	A	7: 35,211,437	Q61L	probably benign	Het
Met	A	C	6: 17,571,467	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,297,699	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,782,981	W16C	probably benign	Het
Myh13	G	A	11: 67,350,419	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,203,381	T453I	probably benign	Het
Nos2	A	G	11: 78,952,954	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,882,344	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,591,724	D149G	probably benign	Het
Olfr203	T	C	16: 59,303,641	F164L	probably benign	Het
Olfr690	C	T	7: 105,330,027	R55H	probably benign	Het
Pcbp4	C	A	9: 106,460,648		probably null	Het
Peg10	A	G	6: 4,757,137		probably benign	Het
Pms2	C	T	5: 143,925,419	P154L	probably benign	Het
Pou6f2	A	C	13: 18,129,187	L112R	probably benign	Het
Prdm6	A	T	18: 53,465,046		probably benign	Het
Prob1	G	A	18: 35,655,154	R12W	probably damaging	Het
Rif1	T	A	2: 52,078,263		probably null	Het
Rpl9-ps6	A	G	19: 32,466,143	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Homo
Sec23ip	A	G	7: 128,752,849		silent	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Slc39a8	T	C	3: 135,849,180		probably null	Het
Slc6a18	C	A	13: 73,677,991		probably benign	Het
Snw1	T	C	12: 87,464,710	D57G	probably damaging	Het
Sox6	C	G	7: 115,541,731	R505P	probably damaging	Het
Speg	T	C	1: 75,410,395		probably null	Het
Spire2	C	T	8: 123,356,846	R190C	probably damaging	Het
Stard9	A	C	2: 120,698,383	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,343,243	T237K	probably damaging	Het
Themis2	T	A	4: 132,796,262	E31V	possibly damaging	Het
Trim56	T	G	5: 137,114,521	Q47P	probably damaging	Het
Trim58	T	C	11: 58,651,264	I350T	probably benign	Het
Ttll7	C	T	3: 146,944,056	P639S	probably benign	Het
Ubxn6	A	G	17: 56,070,650		probably null	Het
Vmn2r114	A	T	17: 23,309,876	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,231,422	M822L	probably benign	Het
Vps9d1	T	C	8: 123,254,007	D27G	probably damaging	Het
Whamm	G	A	7: 81,578,302		probably null	Het
Zcchc24	T	C	14: 25,757,033	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894	K2050R	probably damaging	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
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
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'- CAGCCATGTTGGTTTCTTCAAC -3'
(R):5'- ACAACAGAAGCACTTAGTGAGC -3'

Sequencing Primer
(F):5'- TCTTCAACCAAGGCTGACATCTG -3'
(R):5'- AGACAGTGCCCACTCAGACG -3'

Posted On

2018-08-01