Mutagenetix > Incidental Mutations

Incidental Mutation 'R0730:Wdr17'

67467

Institutional Source

Beutler Lab

Gene Symbol

Wdr17

Ensembl Gene

ENSMUSG00000039375

Gene Name

WD repeat domain 17

Synonyms

B230207L18Rik, 3010002I12Rik

MMRRC Submission

038911-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54629055-54887184 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54693096 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 90 (A90T)

Ref Sequence

ENSEMBL: ENSMUSP00000135805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127511] [ENSMUST00000129132] [ENSMUST00000144482] [ENSMUST00000144711] [ENSMUST00000148408] [ENSMUST00000150488] [ENSMUST00000175915] [ENSMUST00000176866]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126316

Predicted Effect

probably benign
Transcript: ENSMUST00000127511
AA Change: A114T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: A114T

Domain	Start	End	E-Value	Type
WD40	72	112	8.55e-8	SMART
WD40	162	202	1.58e2	SMART
WD40	205	252	4.26e1	SMART
WD40	255	298	1.15e0	SMART
WD40	383	422	1.59e-7	SMART
WD40	425	465	2.39e0	SMART
WD40	468	509	5.52e-2	SMART
WD40	511	550	4.14e-6	SMART
WD40	555	595	5.14e-11	SMART
WD40	598	638	6.58e-9	SMART
WD40	641	681	6.28e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129132
AA Change: A90T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000134935
Gene: ENSMUSG00000039375
AA Change: A90T

Domain	Start	End	E-Value	Type
WD40	48	88	8.55e-8	SMART
Blast:WD40	91	131	1e-12	BLAST
WD40	138	178	1.58e2	SMART
WD40	181	228	4.26e1	SMART
WD40	231	271	9.86e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144482

SMART Domains

Protein: ENSMUSP00000134950
Gene: ENSMUSG00000039375

Domain	Start	End	E-Value	Type
Blast:WD40	16	65	2e-24	BLAST
WD40	70	109	1.59e-7	SMART
WD40	112	152	2.39e0	SMART
WD40	155	196	5.52e-2	SMART
WD40	198	237	4.14e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144711
AA Change: A114T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: A114T

Domain	Start	End	E-Value	Type
WD40	72	112	8.55e-8	SMART
WD40	194	235	7.64e1	SMART
WD40	238	281	1.15e0	SMART
WD40	366	405	1.59e-7	SMART
WD40	408	448	2.39e0	SMART
WD40	451	492	5.52e-2	SMART
WD40	494	533	4.14e-6	SMART
WD40	538	578	5.14e-11	SMART
WD40	581	621	6.58e-9	SMART
WD40	624	664	6.28e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148806

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150488
AA Change: A90T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: A90T

Domain	Start	End	E-Value	Type
WD40	48	88	8.55e-8	SMART
WD40	138	178	1.58e2	SMART
WD40	181	228	4.26e1	SMART
WD40	231	274	1.15e0	SMART
WD40	359	398	1.59e-7	SMART
WD40	401	441	2.39e0	SMART
WD40	444	485	5.52e-2	SMART
WD40	487	526	4.14e-6	SMART
WD40	531	571	5.14e-11	SMART
WD40	574	614	6.58e-9	SMART
WD40	617	657	6.28e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175915
AA Change: A90T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: A90T

Domain	Start	End	E-Value	Type
WD40	48	88	8.55e-8	SMART
WD40	138	178	1.58e2	SMART
WD40	181	228	4.26e1	SMART
WD40	231	274	1.15e0	SMART
WD40	359	398	1.59e-7	SMART
WD40	401	441	2.39e0	SMART
WD40	444	485	5.52e-2	SMART
WD40	487	526	4.14e-6	SMART
WD40	531	571	5.14e-11	SMART
WD40	574	614	6.58e-9	SMART
WD40	617	657	6.28e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176866

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.1%

Validation Efficiency

99% (99/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,469,535	H509L	probably benign	Het
9930021J03Rik	T	A	19: 29,717,981	I1438F	probably benign	Het
Adam9	A	T	8: 24,996,758	I168N	probably benign	Het
Adamts20	G	A	15: 94,347,690	A577V	probably benign	Het
Agtr1a	A	T	13: 30,381,296	S115C	probably damaging	Het
Ankrd11	T	C	8: 122,891,953	Y1720C	probably damaging	Het
Ano6	A	T	15: 95,920,371	T353S	probably damaging	Het
App	A	G	16: 85,079,952	F184L	probably damaging	Het
Arhgef38	T	A	3: 133,137,471	Y446F	probably benign	Het
Aspg	T	A	12: 112,112,259	Y57*	probably null	Het
Atp1a4	G	A	1: 172,240,207		probably benign	Het
Bdp1	G	A	13: 100,058,951		probably benign	Het
Bicd2	T	A	13: 49,378,241	S246T	possibly damaging	Het
Bsn	T	A	9: 108,106,812	M3348L	unknown	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Cacna2d3	T	C	14: 28,982,365	I820V	probably benign	Het
Cdc40	A	G	10: 40,844,956		probably benign	Het
Cdh23	T	C	10: 60,323,714	E2094G	probably damaging	Het
Celsr2	T	A	3: 108,398,606	N2061Y	probably damaging	Het
Cfap206	G	A	4: 34,711,391	A502V	probably benign	Het
Cfap54	T	C	10: 93,034,737	T29A	probably benign	Het
Cfap57	T	C	4: 118,612,920		probably null	Het
Chd5	A	G	4: 152,347,984	E43G	possibly damaging	Het
Clk1	G	A	1: 58,414,399	H343Y	probably benign	Het
Cntn4	A	C	6: 106,550,486	K443T	probably damaging	Het
Csn2	G	A	5: 87,694,952	A72V	possibly damaging	Het
Ctdp1	T	A	18: 80,450,242	H346L	probably benign	Het
Ctif	A	T	18: 75,565,012	N192K	probably damaging	Het
Ddr2	G	A	1: 169,995,566	A383V	probably benign	Het
Derl3	C	T	10: 75,895,242		probably benign	Het
Dgkh	T	C	14: 78,584,479	I865V	probably damaging	Het
Dip2b	C	T	15: 100,171,651	A619V	probably damaging	Het
Eml1	A	G	12: 108,530,326	T614A	possibly damaging	Het
Eogt	G	C	6: 97,116,009	Y402*	probably null	Het
Erbb4	A	G	1: 68,259,290	V647A	probably damaging	Het
Esm1	G	T	13: 113,213,502		probably null	Het
Fbxo31	A	G	8: 121,555,364		probably benign	Het
Fbxw5	T	A	2: 25,504,618	D201E	possibly damaging	Het
Fgfr1	G	A	8: 25,555,744	D123N	probably benign	Het
G530012D18Rik	A	C	1: 85,577,036		probably benign	Het
Gnat1	G	A	9: 107,679,463	T29I	probably damaging	Het
Gtf2ird2	A	T	5: 134,192,758	R67*	probably null	Het
Iltifb	A	T	10: 118,294,237	D87E	probably benign	Het
Kcnq3	T	C	15: 65,995,608	T729A	probably benign	Het
Klrc2	A	T	6: 129,658,696	S156R	probably damaging	Het
Krt76	A	T	15: 101,887,349	L462Q	probably damaging	Het
Lama3	C	A	18: 12,456,850		probably benign	Het
Lin28a	A	T	4: 134,008,008	S56T	probably damaging	Het
Macf1	A	G	4: 123,382,530		probably benign	Het
Macrod2	C	T	2: 142,217,674		probably benign	Het
Mansc1	C	T	6: 134,617,461		probably benign	Het
Map1b	G	T	13: 99,429,766	S2149*	probably null	Het
Mgst1	A	T	6: 138,147,669	T34S	probably benign	Het
Mlf2	C	T	6: 124,934,391	T123M	probably damaging	Het
Mospd2	C	T	X: 164,948,257		probably benign	Het
Mrpl15	A	T	1: 4,777,611	V155E	probably damaging	Het
Mstn	A	T	1: 53,061,794	Y10F	possibly damaging	Het
Myo1g	C	T	11: 6,520,794	V21M	probably damaging	Het
Myom2	T	C	8: 15,099,326	I599T	probably benign	Het
Ndc80	A	T	17: 71,496,246	N633K	probably benign	Het
Nhs	C	A	X: 161,837,300	V1487L	possibly damaging	Het
Npc1	T	C	18: 12,219,325	T106A	probably benign	Het
Nup133	C	T	8: 123,949,008	V57M	probably benign	Het
Nup98	T	A	7: 102,160,716	T536S	probably damaging	Het
Olfr1045	A	G	2: 86,198,725	V9A	probably benign	Het
Olfr1106	T	C	2: 87,049,148	I29M	probably benign	Het
Olfr818	T	A	10: 129,945,111	H317L	probably benign	Het
Oprm1	T	C	10: 6,832,652		probably benign	Het
Ostf1	C	T	19: 18,604,207	V14I	unknown	Het
Pcdhb14	C	A	18: 37,448,868	D342E	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pdpr	T	C	8: 111,125,755		probably null	Het
Plce1	G	A	19: 38,716,691	V847M	probably damaging	Het
Pon3	A	G	6: 5,230,444	M288T	probably benign	Het
Psd2	A	T	18: 35,978,574	D84V	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ralgapa1	T	C	12: 55,665,663	K1808E	probably damaging	Het
Ramp3	T	C	11: 6,676,476		probably benign	Het
Rasgrf1	T	A	9: 89,951,009		probably benign	Het
Rictor	A	G	15: 6,773,986		probably benign	Het
Rptor	A	T	11: 119,884,954	I984F	probably benign	Het
Slc1a6	C	T	10: 78,796,008	P223S	probably benign	Het
Taar8b	A	C	10: 24,092,026	V90G	probably damaging	Het
Tbc1d21	A	G	9: 58,359,877	V327A	probably benign	Het
Tex21	T	C	12: 76,204,166	T499A	probably benign	Het
Tg	A	T	15: 66,678,789	D256V	probably damaging	Het
Tmf1	A	G	6: 97,176,492	S207P	probably benign	Het
Tpr	A	G	1: 150,393,407		probably benign	Het
Ufd1	A	G	16: 18,814,887	T21A	probably damaging	Het
Unc13a	T	C	8: 71,656,285	D115G	possibly damaging	Het
Usb1	T	A	8: 95,344,041	F198L	probably damaging	Het
Utrn	A	T	10: 12,698,158		probably benign	Het
Vars	A	G	17: 35,014,300	N954S	probably damaging	Het
Wdr33	C	T	18: 31,835,376		probably benign	Het
Zfp236	A	G	18: 82,640,244		probably benign	Het
Zfp445	A	T	9: 122,861,758	V124E	probably damaging	Het
Zfp616	A	T	11: 74,084,822	H639L	probably damaging	Het
Zfyve16	C	A	13: 92,521,477	S642I	probably damaging	Het
Zswim5	C	T	4: 116,985,746	T896I	possibly damaging	Het

Other mutations in Wdr17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Wdr17	APN	8	54687711	missense	probably damaging	1.00
IGL00496:Wdr17	APN	8	54659579	splice site	probably benign
IGL01318:Wdr17	APN	8	54672550	missense	probably damaging	1.00
IGL01347:Wdr17	APN	8	54651345	missense	probably benign
IGL01654:Wdr17	APN	8	54662879	missense	probably damaging	1.00
IGL02010:Wdr17	APN	8	54659703	missense	probably damaging	0.97
IGL02085:Wdr17	APN	8	54687736	nonsense	probably null
IGL02205:Wdr17	APN	8	54696300	missense	probably damaging	1.00
IGL02375:Wdr17	APN	8	54696388	missense	possibly damaging	0.94
IGL02705:Wdr17	APN	8	54648215	splice site	probably null
IGL02719:Wdr17	APN	8	54693054	splice site	probably null
IGL03051:Wdr17	APN	8	54651314	missense	probably damaging	0.99
IGL03131:Wdr17	APN	8	54696267	critical splice donor site	probably null
IGL03172:Wdr17	APN	8	54661480	missense	probably damaging	0.96
enthralled	UTSW	8	54659681	missense	possibly damaging	0.85
riveted	UTSW	8	54632487	missense	probably benign	0.00
thrilled	UTSW	8	54696268	critical splice donor site	probably null
IGL03138:Wdr17	UTSW	8	54649143	missense	probably damaging	1.00
PIT4458001:Wdr17	UTSW	8	54673579	nonsense	probably null
R0011:Wdr17	UTSW	8	54672501	missense	possibly damaging	0.87
R0011:Wdr17	UTSW	8	54672501	missense	possibly damaging	0.87
R0124:Wdr17	UTSW	8	54635491	missense	probably damaging	1.00
R0226:Wdr17	UTSW	8	54663008	missense	probably benign	0.08
R0270:Wdr17	UTSW	8	54693096	missense	possibly damaging	0.85
R0271:Wdr17	UTSW	8	54693096	missense	possibly damaging	0.85
R0288:Wdr17	UTSW	8	54693096	missense	possibly damaging	0.85
R0321:Wdr17	UTSW	8	54696268	critical splice donor site	probably null
R0464:Wdr17	UTSW	8	54670392	splice site	probably benign
R0479:Wdr17	UTSW	8	54651421	intron	probably null
R0488:Wdr17	UTSW	8	54693052	unclassified	probably benign
R0552:Wdr17	UTSW	8	54693096	missense	possibly damaging	0.85
R0553:Wdr17	UTSW	8	54693096	missense	possibly damaging	0.85
R0600:Wdr17	UTSW	8	54661495	missense	probably damaging	1.00
R0621:Wdr17	UTSW	8	54643191	missense	probably benign	0.18
R0655:Wdr17	UTSW	8	54649198	missense	probably damaging	1.00
R0789:Wdr17	UTSW	8	54659572	splice site	probably benign
R0854:Wdr17	UTSW	8	54703881	missense	probably benign
R0879:Wdr17	UTSW	8	54661481	missense	probably benign	0.08
R1462:Wdr17	UTSW	8	54670328	missense	probably damaging	1.00
R1462:Wdr17	UTSW	8	54670328	missense	probably damaging	1.00
R1497:Wdr17	UTSW	8	54672501	missense	possibly damaging	0.87
R1589:Wdr17	UTSW	8	54703907	intron	probably benign
R1618:Wdr17	UTSW	8	54639895	missense	probably damaging	1.00
R1768:Wdr17	UTSW	8	54673654	missense	possibly damaging	0.84
R1778:Wdr17	UTSW	8	54690214	missense	probably damaging	1.00
R1819:Wdr17	UTSW	8	54690124	missense	probably benign	0.18
R1913:Wdr17	UTSW	8	54687726	missense	probably damaging	1.00
R2129:Wdr17	UTSW	8	54632381	missense	probably damaging	1.00
R2132:Wdr17	UTSW	8	54672506	missense	probably damaging	1.00
R2309:Wdr17	UTSW	8	54643248	missense	probably benign
R3882:Wdr17	UTSW	8	54639501	missense	possibly damaging	0.53
R4097:Wdr17	UTSW	8	54635469	missense	probably damaging	1.00
R4372:Wdr17	UTSW	8	54639895	missense	probably damaging	1.00
R4380:Wdr17	UTSW	8	54648407	intron	probably benign
R4480:Wdr17	UTSW	8	54664964	critical splice donor site	probably null
R4654:Wdr17	UTSW	8	54681399	missense	probably damaging	1.00
R4656:Wdr17	UTSW	8	54681399	missense	probably damaging	1.00
R4669:Wdr17	UTSW	8	54690048	missense	possibly damaging	0.72
R4719:Wdr17	UTSW	8	54639876	missense	probably benign	0.33
R4912:Wdr17	UTSW	8	54629861	missense	probably damaging	1.00
R5000:Wdr17	UTSW	8	54665126	missense	possibly damaging	0.82
R5073:Wdr17	UTSW	8	54690236	critical splice acceptor site	probably null
R5176:Wdr17	UTSW	8	54653878	critical splice donor site	probably null
R5194:Wdr17	UTSW	8	54687604	missense	probably damaging	1.00
R5270:Wdr17	UTSW	8	54643186	missense	probably benign	0.20
R5300:Wdr17	UTSW	8	54681399	missense	probably damaging	1.00
R5325:Wdr17	UTSW	8	54659681	missense	possibly damaging	0.85
R5336:Wdr17	UTSW	8	54632318	missense	probably damaging	1.00
R5394:Wdr17	UTSW	8	54639489	missense	possibly damaging	0.73
R5424:Wdr17	UTSW	8	54681399	missense	probably damaging	1.00
R5425:Wdr17	UTSW	8	54681399	missense	probably damaging	1.00
R5426:Wdr17	UTSW	8	54681399	missense	probably damaging	1.00
R5548:Wdr17	UTSW	8	54703851	missense	probably damaging	0.97
R5681:Wdr17	UTSW	8	54662869	missense	probably damaging	1.00
R5722:Wdr17	UTSW	8	54660771	critical splice donor site	probably null
R5894:Wdr17	UTSW	8	54696300	missense	probably damaging	1.00
R5906:Wdr17	UTSW	8	54639468	missense	probably benign	0.33
R6038:Wdr17	UTSW	8	54632311	critical splice donor site	probably null
R6038:Wdr17	UTSW	8	54632311	critical splice donor site	probably null
R6391:Wdr17	UTSW	8	54661460	missense	probably benign	0.04
R6605:Wdr17	UTSW	8	54681524	missense	probably benign	0.16
R6892:Wdr17	UTSW	8	54673596	missense	probably damaging	1.00
R7019:Wdr17	UTSW	8	54681453	missense	probably damaging	1.00
R7257:Wdr17	UTSW	8	54632487	missense	probably benign	0.00
R7481:Wdr17	UTSW	8	54661336	missense	probably benign
V5088:Wdr17	UTSW	8	54693096	missense	possibly damaging	0.85
V5622:Wdr17	UTSW	8	54693096	missense	possibly damaging	0.85
V5622:Wdr17	UTSW	8	54693096	missense	possibly damaging	0.85
X0022:Wdr17	UTSW	8	54639494	missense	probably benign	0.04
X0066:Wdr17	UTSW	8	54673560	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTAATAgtaatggcatacctttaatcccag -3'
(R):5'- GGTTGAATGAAAACCAAGGCATAACATGA -3'

Sequencing Primer
(F):5'- agaacacataaatgaacaggcaag -3'
(R):5'- GGTTGCTAACTGAGAGCATATTACG -3'

Posted On

2013-09-03