Mutagenetix > Incidental Mutations

Incidental Mutation 'R0414:Wdr66'

40159

Institutional Source

Beutler Lab

Gene Symbol

Wdr66

Ensembl Gene

ENSMUSG00000029442

Gene Name

WD repeat domain 66

Synonyms

MMRRC Submission

038616-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123252102-123327484 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 123287413 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129769 (fasta)

Gene Model

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

Predicted Effect

probably null
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

probably null
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: ENSMUST00000150155

Predicted Effect

probably null
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

probably null
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

probably null
Transcript: ENSMUST00000170536

SMART Domains

Protein: ENSMUSP00000129769
Gene: ENSMUSG00000029442

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

probably null
Transcript: ENSMUST00000170536

SMART Domains

Protein: ENSMUSP00000129769
Gene: ENSMUSG00000029442

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

96% (64/67)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	A	T	5: 103,649,490	V51E	probably benign	Het
4922502D21Rik	T	C	6: 129,326,850		probably benign	Het
Abo	T	C	2: 26,843,416	Y259C	probably damaging	Het
Adamts5	A	G	16: 85,877,906	S457P	probably damaging	Het
Alk	G	T	17: 71,899,286		probably benign	Het
Alpk2	A	G	18: 65,306,159	I1188T	probably benign	Het
Ambra1	T	C	2: 91,875,739	S730P	possibly damaging	Het
Arhgef2	T	C	3: 88,632,268		probably benign	Het
B3gnt7	T	C	1: 86,305,629	I82T	probably damaging	Het
B4galnt3	T	C	6: 120,216,565	D400G	probably benign	Het
Bag4	A	G	8: 25,767,997	V434A	possibly damaging	Het
BC055324	T	C	1: 163,968,321	I434V	probably benign	Het
Cfc1	A	G	1: 34,537,328	D130G	probably damaging	Het
Chd4	T	C	6: 125,107,480	Y692H	probably damaging	Het
Cilp2	A	G	8: 69,882,993	S452P	probably benign	Het
Crybg2	GAGAAGAAG	GAGAAG	4: 134,072,636		probably benign	Het
Dnah2	T	C	11: 69,499,238	D727G	probably benign	Het
Dock10	C	A	1: 80,535,933	V1129F	possibly damaging	Het
Dsc1	A	T	18: 20,088,354	I688N	possibly damaging	Het
Dyrk1a	C	G	16: 94,663,842	T103R	probably damaging	Het
Ebf1	C	T	11: 44,924,470	R304*	probably null	Het
Eif2s2	A	G	2: 154,884,461		probably benign	Het
Endov	T	G	11: 119,499,571	Y8*	probably null	Het
Eps15	T	A	4: 109,366,480	D485E	probably damaging	Het
Fam118a	C	A	15: 85,045,689	S39R	probably damaging	Het
Fam173b	T	A	15: 31,617,002	Y126*	probably null	Het
Fbxo22	T	A	9: 55,223,626	M393K	possibly damaging	Het
Gab1	A	G	8: 80,800,289	I60T	probably damaging	Het
Gapvd1	A	G	2: 34,693,427	L1059P	probably benign	Het
Gbp5	A	G	3: 142,507,913		probably null	Het
Glb1l2	T	A	9: 26,765,104	K487*	probably null	Het
Hist1h1a	A	G	13: 23,764,158		probably benign	Het
Hmcn1	T	C	1: 150,715,822	I1875M	possibly damaging	Het
Jkamp	T	C	12: 72,094,145		probably null	Het
Kprp	C	T	3: 92,825,713	C10Y	probably damaging	Het
Lrig2	A	G	3: 104,494,056		probably null	Het
Lrrn3	T	A	12: 41,453,940	N126I	probably damaging	Het
Mug1	T	C	6: 121,856,554	F325L	probably benign	Het
Myadm	AC	ACC	7: 3,296,760		probably null	Het
Nagk	C	T	6: 83,797,267	R87*	probably null	Het
Nipal4	T	A	11: 46,161,908	I77F	probably damaging	Het
Olfr1217	A	G	2: 89,023,146	Y286H	probably damaging	Het
Osbp2	T	C	11: 3,819,932	H250R	probably damaging	Het
Pcx	T	C	19: 4,607,642	V378A	possibly damaging	Het
Pfkp	T	A	13: 6,593,210	H524L	probably benign	Het
Picalm	A	T	7: 90,189,198	N370I	possibly damaging	Het
Plcl2	A	C	17: 50,607,955	D664A	possibly damaging	Het
Ptpn5	G	A	7: 47,083,136	P320S	probably benign	Het
Scn3a	T	A	2: 65,525,982		probably benign	Het
Sfswap	A	G	5: 129,504,051	D96G	possibly damaging	Het
Slfn1	A	G	11: 83,121,270	I71V	probably benign	Het
Spata1	A	G	3: 146,476,188		probably null	Het
Stx18	T	C	5: 38,105,005		probably benign	Het
Suox	T	A	10: 128,671,457	H234L	probably benign	Het
Tbc1d17	T	C	7: 44,846,059	S114G	probably benign	Het
Tfeb	T	A	17: 47,788,299		probably null	Het
Tnks	A	C	8: 34,853,309	V736G	probably damaging	Het
Wdhd1	T	C	14: 47,276,588	T4A	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
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
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
R8773:Wdr66	UTSW	5	123273850	missense	probably benign	0.12
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'- TGGATGGCACCAAACTTGAGAAGC -3'
(R):5'- TCCTGAAATGACAAGTCCGAGAACG -3'

Sequencing Primer
(F):5'- ACTTGAGAAGCTCTTCGTGGAAC -3'
(R):5'- TGACAAGTCCGAGAACGGTAAAG -3'

Posted On

2013-05-23