Mutagenetix > Incidental Mutations

Incidental Mutation 'R5123:Wdr66'

393395

Institutional Source

Beutler Lab

Gene Symbol

Wdr66

Ensembl Gene

ENSMUSG00000029442

Gene Name

WD repeat domain 66

Synonyms

MMRRC Submission

042711-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5123 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123252102-123327484 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 123273633 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121964] [ENSMUST00000163092] [ENSMUST00000170536]

Predicted Effect

probably benign
Transcript: ENSMUST00000121964

SMART Domains

Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442

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: ENSMUST00000143629

Predicted Effect

probably benign
Transcript: ENSMUST00000163092

SMART Domains

Protein: ENSMUSP00000126995
Gene: ENSMUSG00000029442

Domain	Start	End	E-Value	Type
Blast:WD40	1	28	3e-10	BLAST
Blast:WD40	35	75	2e-15	BLAST
Blast:WD40	87	126	3e-17	BLAST
low complexity region	130	144	N/A	INTRINSIC
WD40	146	180	7.64e1	SMART
Blast:WD40	183	246	2e-14	BLAST
WD40	248	287	8.62e-4	SMART
WD40	292	330	1.19e1	SMART
WD40	335	374	5.97e-1	SMART
WD40	383	426	1.23e2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000170536
AA Change: K4E

SMART Domains

Protein: ENSMUSP00000129769
Gene: ENSMUSG00000029442
AA Change: K4E

Domain	Start	End	E-Value	Type
WD40	42	86	3.18e1	SMART
Blast:WD40	93	133	1e-15	BLAST
Blast:WD40	145	184	3e-17	BLAST
low complexity region	188	202	N/A	INTRINSIC
WD40	204	238	7.64e1	SMART
Blast:WD40	241	304	3e-14	BLAST
WD40	306	345	8.62e-4	SMART
WD40	350	388	1.19e1	SMART
WD40	393	432	5.97e-1	SMART
WD40	441	484	1.23e2	SMART
Blast:WD40	490	535	2e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200666

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (53/54)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,384,460	G542D	possibly damaging	Het
Adh6b	A	G	3: 138,357,689	Y343C	probably damaging	Het
Adsl	T	A	15: 80,952,294		probably null	Het
Apob	T	A	12: 8,007,630		probably null	Het
Atp6ap1l	T	A	13: 90,898,898		probably benign	Het
Cacnb3	A	G	15: 98,639,869	D74G	probably damaging	Het
Clca3a2	T	A	3: 144,806,343	D544V	probably damaging	Het
Col3a1	G	A	1: 45,333,596		probably benign	Het
D7Ertd443e	A	G	7: 134,349,668		probably null	Het
Dscam	T	C	16: 96,772,437	D775G	probably damaging	Het
Eif2b3	T	A	4: 117,022,211	M16K	probably damaging	Het
Eml5	T	C	12: 98,874,512	Y281C	probably damaging	Het
Epha2	T	A	4: 141,308,865	L204Q	possibly damaging	Het
Filip1l	A	C	16: 57,570,662	I538L	possibly damaging	Het
Gcnt2	T	A	13: 40,918,355	V158D	probably damaging	Het
Gnaq	A	G	19: 16,332,085	N162S	probably benign	Het
Haus5	A	T	7: 30,654,226	N575K	probably benign	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Igsf5	A	G	16: 96,373,079	D103G	probably damaging	Het
Myo10	A	G	15: 25,726,483	D297G	possibly damaging	Het
Net1	C	T	13: 3,886,623	R314H	probably damaging	Het
Olfr1273-ps	C	A	2: 90,296,168	R231L	probably benign	Het
Olfr1301	T	A	2: 111,754,552	V101D	probably damaging	Het
Pcsk4	C	A	10: 80,322,145	Q586H	probably null	Het
Pramef6	A	T	4: 143,897,136	M156K	probably benign	Het
Prss1	A	G	6: 41,463,197	D156G	possibly damaging	Het
Rnf133	A	T	6: 23,649,260	N266K	probably damaging	Het
Setd2	G	T	9: 110,617,527	A2482S	possibly damaging	Het
Sgo2a	A	T	1: 58,016,567	S637C	probably damaging	Het
Slc2a5	C	A	4: 150,139,805	S290*	probably null	Het
Spata6	T	G	4: 111,768,795	H120Q	possibly damaging	Het
Stk11	G	A	10: 80,127,941	V194I	probably damaging	Het
Tkt	T	C	14: 30,565,646	V199A	probably benign	Het
Traf3	G	A	12: 111,243,518	V183M	possibly damaging	Het
Trappc11	T	C	8: 47,513,402	Y483C	probably damaging	Het
Trappc9	T	C	15: 72,913,366		probably benign	Het
Trim59	T	C	3: 69,037,734	H91R	probably benign	Het
Ttc21a	A	G	9: 119,952,212	S484G	probably benign	Het
Usp13	A	T	3: 32,915,798	H691L	probably benign	Het
Vmn1r238	T	C	18: 3,123,243	Y57C	probably benign	Het
Vmn2r111	T	A	17: 22,571,143	Q294L	possibly damaging	Het
Vmn2r17	A	G	5: 109,427,908	D215G	possibly damaging	Het
Zfp280b	A	G	10: 76,039,349	D354G	probably benign	Het
Zfp607a	A	G	7: 27,879,098	H531R	probably damaging	Het
Zfp74	A	T	7: 29,934,733	C517S	probably damaging	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
R4018:Wdr66	UTSW	5	123322454	missense	probably benign	0.04
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
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'- AGAATGAATTAATTCCTCCATGCC -3'
(R):5'- GGCTATTGACCTCATGCCATTAC -3'

Sequencing Primer
(F):5'- CACTCAGGAGGATCCCAATGTTG -3'
(R):5'- TCCTTGCAGAGGGATGC -3'

Posted On

2016-06-15