Mutagenetix > Incidental Mutations

Incidental Mutation 'R4018:Wdr66'

312016

Institutional Source

Beutler Lab

Gene Symbol

Wdr66

Ensembl Gene

ENSMUSG00000029442

Gene Name

WD repeat domain 66

Synonyms

MMRRC Submission

040848-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123252102-123327484 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123322454 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1160 (I1160V)

Ref Sequence

ENSEMBL: ENSMUSP00000113309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069311] [ENSMUST00000121964]

Predicted Effect

probably benign
Transcript: ENSMUST00000069311
AA Change: I186V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000069782
Gene: ENSMUSG00000029442
AA Change: I186V

Domain	Start	End	E-Value	Type
Blast:WD40	54	95	3e-24	BLAST
SCOP:d1exra_	157	267	3e-4	SMART
low complexity region	300	311	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121964
AA Change: I1160V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: I1160V

Domain	Start	End	E-Value	Type
coiled coil region	9	160	N/A	INTRINSIC
coiled coil region	243	299	N/A	INTRINSIC
WD40	437	478	1.58e-2	SMART
WD40	481	525	6.16e0	SMART
Blast:WD40	532	572	2e-15	BLAST
Blast:WD40	584	623	5e-17	BLAST
low complexity region	627	641	N/A	INTRINSIC
WD40	643	677	7.64e1	SMART
Blast:WD40	686	742	1e-13	BLAST
WD40	745	784	8.62e-4	SMART
WD40	789	827	1.19e1	SMART
WD40	832	871	5.97e-1	SMART
WD40	880	923	1.23e2	SMART
WD40	1030	1070	1.15e0	SMART
low complexity region	1274	1285	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125979

Predicted Effect

probably benign
Transcript: ENSMUST00000150155

Meta Mutation Damage Score

0.0820

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 92.4%

Validation Efficiency

100% (33/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aga	A	G	8: 53,523,191	K319R	probably benign	Het
Brip1	G	T	11: 86,138,851	T619K	possibly damaging	Het
Cd300ld2	G	T	11: 115,012,504		probably benign	Het
Cd300lg	A	G	11: 102,041,594	R2G	probably damaging	Het
Celsr2	C	T	3: 108,394,965	V2616I	possibly damaging	Het
Edem3	C	T	1: 151,804,826		probably benign	Het
Endou	T	A	15: 97,718,937	K235M	probably damaging	Het
Gm5431	T	A	11: 48,889,168	N309I	probably damaging	Het
Il4	T	A	11: 53,613,979		probably benign	Het
Iws1	C	A	18: 32,070,152	S27*	probably null	Het
Kdm5d	T	C	Y: 910,441		probably benign	Het
Ldb3	T	C	14: 34,552,171		probably benign	Het
Llgl2	A	G	11: 115,847,612	T284A	probably benign	Het
Maml1	A	T	11: 50,265,784	N521K	probably damaging	Het
Mlxipl	T	C	5: 135,132,672	Y482H	probably damaging	Het
Notch2	G	T	3: 98,104,565	C633F	probably damaging	Het
Oc90	T	C	15: 65,887,608	D232G	probably benign	Het
Olfr1453	T	C	19: 13,027,825	E168G	probably benign	Het
Polr2a	T	C	11: 69,735,059	Y1717C	unknown	Het
Prkca	T	A	11: 107,939,602	I221F	probably damaging	Het
Rab3c	T	A	13: 110,084,194	K144N	probably damaging	Het
Ryr2	T	A	13: 11,918,414	N57I	probably damaging	Het
Scyl3	A	G	1: 163,936,499	T145A	possibly damaging	Het
Sept4	G	A	11: 87,585,121	R162Q	probably damaging	Het
Slc25a39	A	T	11: 102,405,024	L127H	probably damaging	Het
Slc9a9	T	C	9: 94,685,163	V95A	probably benign	Het
Tsc2	T	C	17: 24,625,281	I279V	probably damaging	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r6	T	C	3: 64,556,472	I314V	probably benign	Het

Other mutations in Wdr66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Wdr66	APN	5	123274177	missense	probably damaging	1.00
IGL01090:Wdr66	APN	5	123279989	splice site	probably benign
IGL01387:Wdr66	APN	5	123283546	missense	probably damaging	1.00
IGL01432:Wdr66	APN	5	123279952	missense	possibly damaging	0.88
IGL01642:Wdr66	APN	5	123288698	missense	possibly damaging	0.77
IGL01720:Wdr66	APN	5	123322494	missense	probably benign	0.07
IGL02104:Wdr66	APN	5	123302698	nonsense	probably null
IGL02160:Wdr66	APN	5	123256018	missense	unknown
IGL02238:Wdr66	APN	5	123302423	missense	probably damaging	1.00
IGL02820:Wdr66	APN	5	123254636	unclassified	probably benign
IGL03183:Wdr66	APN	5	123254619	unclassified	probably benign
R0078:Wdr66	UTSW	5	123298570	missense	probably benign	0.04
R0207:Wdr66	UTSW	5	123283447	missense	probably damaging	0.98
R0411:Wdr66	UTSW	5	123290054	missense	probably damaging	1.00
R0414:Wdr66	UTSW	5	123287413	splice site	probably null
R0722:Wdr66	UTSW	5	123256185	missense	probably damaging	1.00
R1169:Wdr66	UTSW	5	123254610	small deletion	probably benign
R1527:Wdr66	UTSW	5	123287345	missense	probably benign	0.19
R1924:Wdr66	UTSW	5	123302739	missense	possibly damaging	0.67
R2022:Wdr66	UTSW	5	123273790	missense	probably benign	0.29
R2110:Wdr66	UTSW	5	123254375	unclassified	probably benign
R2112:Wdr66	UTSW	5	123254375	unclassified	probably benign
R2147:Wdr66	UTSW	5	123256191	missense	probably benign	0.01
R2258:Wdr66	UTSW	5	123283348	splice site	probably null
R2407:Wdr66	UTSW	5	123289969	missense	probably benign	0.11
R2418:Wdr66	UTSW	5	123254268	unclassified	probably benign
R2497:Wdr66	UTSW	5	123283369	missense	probably damaging	1.00
R2509:Wdr66	UTSW	5	123256106	missense	probably benign	0.00
R3437:Wdr66	UTSW	5	123254372	unclassified	probably benign
R3730:Wdr66	UTSW	5	123326568	missense	possibly damaging	0.70
R3800:Wdr66	UTSW	5	123254721	unclassified	probably benign
R4181:Wdr66	UTSW	5	123293810	missense	probably benign	0.33
R4302:Wdr66	UTSW	5	123293810	missense	probably benign	0.33
R4640:Wdr66	UTSW	5	123302432	missense	probably benign	0.00
R4701:Wdr66	UTSW	5	123322613	missense	probably benign	0.00
R4799:Wdr66	UTSW	5	123302772	missense	probably benign	0.04
R4812:Wdr66	UTSW	5	123287305	missense	probably benign	0.01
R4922:Wdr66	UTSW	5	123256053	missense	probably benign	0.00
R5123:Wdr66	UTSW	5	123273633	start gained	probably benign
R5314:Wdr66	UTSW	5	123322563	missense	probably benign	0.01
R5445:Wdr66	UTSW	5	123287177	missense	probably damaging	1.00
R5458:Wdr66	UTSW	5	123254445	unclassified	probably benign
R5462:Wdr66	UTSW	5	123298632	critical splice donor site	probably null
R5514:Wdr66	UTSW	5	123287766	critical splice donor site	probably null
R5600:Wdr66	UTSW	5	123288698	missense	possibly damaging	0.77
R5635:Wdr66	UTSW	5	123322572	missense	probably benign	0.25
R5767:Wdr66	UTSW	5	123298521	missense	probably benign	0.01
R5943:Wdr66	UTSW	5	123286357	missense	probably benign	0.13
R6000:Wdr66	UTSW	5	123254372	unclassified	probably benign
R6030:Wdr66	UTSW	5	123274204	missense	probably damaging	0.97
R6030:Wdr66	UTSW	5	123274204	missense	probably damaging	0.97
R6293:Wdr66	UTSW	5	123322448	missense	probably damaging	1.00
R6354:Wdr66	UTSW	5	123302755	missense	probably damaging	0.99
R6356:Wdr66	UTSW	5	123254666	unclassified	probably benign
R6427:Wdr66	UTSW	5	123326533	missense	probably damaging	1.00
R6896:Wdr66	UTSW	5	123278358	missense	possibly damaging	0.81
R6909:Wdr66	UTSW	5	123287752	missense	probably damaging	1.00
R7503:Wdr66	UTSW	5	123297458	nonsense	probably null
R7707:Wdr66	UTSW	5	123253887	missense	probably benign	0.00
R7715:Wdr66	UTSW	5	123262134	missense	probably damaging	1.00
R7809:Wdr66	UTSW	5	123264831	missense	probably damaging	1.00
R7819:Wdr66	UTSW	5	123254259	unclassified	probably benign
R7842:Wdr66	UTSW	5	123254424	missense	unknown
R7898:Wdr66	UTSW	5	123322454	missense	probably damaging	0.99
R7967:Wdr66	UTSW	5	123283516	missense	possibly damaging	0.89
R8004:Wdr66	UTSW	5	123254450	missense	unknown
R8068:Wdr66	UTSW	5	123256166	missense	not run
R8141:Wdr66	UTSW	5	123286430	missense	possibly damaging	0.83
R8222:Wdr66	UTSW	5	123302423	missense	probably damaging	1.00
R8242:Wdr66	UTSW	5	123273851	missense	possibly damaging	0.89
R8303:Wdr66	UTSW	5	123322587	missense	probably damaging	0.99
R8323:Wdr66	UTSW	5	123297525	missense	probably benign	0.16
RF007:Wdr66	UTSW	5	123254254	small insertion	probably benign
RF010:Wdr66	UTSW	5	123274161	critical splice acceptor site	probably benign
RF015:Wdr66	UTSW	5	123254242	small insertion	probably benign
RF015:Wdr66	UTSW	5	123274161	critical splice acceptor site	probably benign
RF017:Wdr66	UTSW	5	123253890	small insertion	probably benign
RF024:Wdr66	UTSW	5	123253883	small insertion	probably benign
RF024:Wdr66	UTSW	5	123253888	small insertion	probably benign
RF024:Wdr66	UTSW	5	123253889	small insertion	probably benign
X0062:Wdr66	UTSW	5	123274237	missense	probably benign	0.29
X0066:Wdr66	UTSW	5	123288647	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTTCAGCAATCTGTCCTGGG -3'
(R):5'- GGAGTAAGTTCAGGAAATCCTCTC -3'

Sequencing Primer
(F):5'- CAATCTGTCCTGGGGTGGG -3'
(R):5'- GGAAATCCTCTCTCCGAATGG -3'

Posted On

2015-04-29