Mutagenetix > Incidental Mutation

Incidental Mutation 'R0288:Wdr17'

24727

Institutional Source

Beutler Lab

Gene Symbol

Wdr17

Ensembl Gene

ENSMUSG00000039375

Gene Name

WD repeat domain 17

Synonyms

B230207L18Rik, 3010002I12Rik

MMRRC Submission

038507-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0288 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

55082316-55180014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55146131 bp (GRCm39)

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] [ENSMUST00000175915] [ENSMUST00000150488] [ENSMUST00000176866]

AlphaFold

E9Q271

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: 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

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

probably benign
Transcript: ENSMUST00000176866

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.7%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,766,568 (GRCm39)	E413G	possibly damaging	Het
Amigo2	G	T	15: 97,143,560 (GRCm39)	N287K	probably damaging	Het
Ankle2	T	A	5: 110,384,256 (GRCm39)	I260K	probably damaging	Het
Apob	C	T	12: 8,040,779 (GRCm39)	R635*	probably null	Het
Camkv	A	G	9: 107,823,555 (GRCm39)	Y153C	probably damaging	Het
Capn9	A	G	8: 125,327,230 (GRCm39)		probably benign	Het
Ces2c	A	G	8: 105,576,376 (GRCm39)	I130V	probably benign	Het
Cfap44	T	A	16: 44,236,257 (GRCm39)		probably benign	Het
Cfhr3	A	G	1: 139,525,425 (GRCm39)		noncoding transcript	Het
Chmp1a	G	T	8: 123,934,745 (GRCm39)	D70E	probably damaging	Het
Coil	G	A	11: 88,872,694 (GRCm39)	G352R	probably damaging	Het
Colq	T	C	14: 31,265,949 (GRCm39)	E188G	possibly damaging	Het
Cyfip2	A	G	11: 46,144,799 (GRCm39)	F685S	possibly damaging	Het
Cyp4f39	A	G	17: 32,711,410 (GRCm39)	N519S	probably benign	Het
Dennd1c	A	T	17: 57,383,870 (GRCm39)		probably null	Het
Dnah9	A	T	11: 65,915,960 (GRCm39)		probably null	Het
Dnmbp	T	C	19: 43,890,898 (GRCm39)	T290A	possibly damaging	Het
Dsc2	T	C	18: 20,166,177 (GRCm39)	D818G	probably damaging	Het
Gnptab	G	A	10: 88,268,967 (GRCm39)	V557I	probably benign	Het
Hdac4	A	T	1: 91,898,728 (GRCm39)	H675Q	probably damaging	Het
Kcnk3	T	C	5: 30,745,764 (GRCm39)	M35T	probably benign	Het
Kif1b	A	T	4: 149,283,795 (GRCm39)	I1290N	probably damaging	Het
Klhl14	G	A	18: 21,698,620 (GRCm39)	R398W	probably damaging	Het
Marveld1	T	C	19: 42,136,265 (GRCm39)	F60L	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Ndst3	A	T	3: 123,465,843 (GRCm39)	V43D	probably benign	Het
Nhsl1	A	G	10: 18,399,794 (GRCm39)	D306G	probably damaging	Het
Nlrp2	A	G	7: 5,331,544 (GRCm39)	V284A	probably benign	Het
Pcdhb15	T	C	18: 37,608,451 (GRCm39)	V561A	probably damaging	Het
Pdcl2	T	C	5: 76,460,344 (GRCm39)	I177V	possibly damaging	Het
Pkd1l3	G	A	8: 110,373,131 (GRCm39)		probably null	Het
Pla2g6	A	C	15: 79,171,106 (GRCm39)		probably benign	Het
Plekhj1	A	T	10: 80,632,444 (GRCm39)	I122N	probably damaging	Het
Pmel	T	C	10: 128,550,175 (GRCm39)	I70T	probably benign	Het
Psip1	T	C	4: 83,383,196 (GRCm39)	D273G	probably damaging	Het
Rictor	A	G	15: 6,816,021 (GRCm39)	I1098V	probably benign	Het
Rif1	T	C	2: 52,000,025 (GRCm39)	S1160P	probably damaging	Het
Rsbn1l	T	C	5: 21,125,038 (GRCm39)	I255V	probably damaging	Het
Slc15a5	A	G	6: 137,994,914 (GRCm39)		probably benign	Het
Slc29a1	G	A	17: 45,900,730 (GRCm39)	R111W	probably damaging	Het
Slc36a1	G	A	11: 55,109,913 (GRCm39)	A74T	probably damaging	Het
Slc5a7	A	T	17: 54,600,046 (GRCm39)	Y122*	probably null	Het
Slc6a3	G	T	13: 73,709,047 (GRCm39)	G324W	probably damaging	Het
Sltm	T	C	9: 70,486,633 (GRCm39)	S433P	probably damaging	Het
Spta1	T	C	1: 174,070,745 (GRCm39)	S2190P	probably damaging	Het
Sry	A	T	Y: 2,662,818 (GRCm39)	F281I	unknown	Het
Stk32a	T	A	18: 43,438,060 (GRCm39)		probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tbl3	G	A	17: 24,920,781 (GRCm39)	H612Y	probably damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Top2a	A	G	11: 98,907,249 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,333,606 (GRCm39)		probably benign	Het
Vldlr	G	A	19: 27,218,051 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r28	A	G	7: 5,491,020 (GRCm39)	L409P	probably damaging	Het
Vps13c	T	C	9: 67,834,648 (GRCm39)	V1659A	probably damaging	Het
Zfp280d	A	T	9: 72,238,621 (GRCm39)	K646*	probably null	Het
Zfp36	A	G	7: 28,077,666 (GRCm39)	S81P	probably benign	Het
Zfp618	A	T	4: 63,051,171 (GRCm39)	T651S	possibly damaging	Het

Other mutations in Wdr17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Wdr17	APN	8	55,140,746 (GRCm39)	missense	probably damaging	1.00
IGL00496:Wdr17	APN	8	55,112,614 (GRCm39)	splice site	probably benign
IGL01318:Wdr17	APN	8	55,125,585 (GRCm39)	missense	probably damaging	1.00
IGL01347:Wdr17	APN	8	55,104,380 (GRCm39)	missense	probably benign
IGL01654:Wdr17	APN	8	55,115,914 (GRCm39)	missense	probably damaging	1.00
IGL02010:Wdr17	APN	8	55,112,738 (GRCm39)	missense	probably damaging	0.97
IGL02085:Wdr17	APN	8	55,140,771 (GRCm39)	nonsense	probably null
IGL02205:Wdr17	APN	8	55,149,335 (GRCm39)	missense	probably damaging	1.00
IGL02375:Wdr17	APN	8	55,149,423 (GRCm39)	missense	possibly damaging	0.94
IGL02705:Wdr17	APN	8	55,101,250 (GRCm39)	splice site	probably null
IGL02719:Wdr17	APN	8	55,146,089 (GRCm39)	splice site	probably null
IGL03051:Wdr17	APN	8	55,104,349 (GRCm39)	missense	probably damaging	0.99
IGL03131:Wdr17	APN	8	55,149,302 (GRCm39)	critical splice donor site	probably null
IGL03172:Wdr17	APN	8	55,114,515 (GRCm39)	missense	probably damaging	0.96
enthralled	UTSW	8	55,112,716 (GRCm39)	missense	possibly damaging	0.85
riveted	UTSW	8	55,085,522 (GRCm39)	missense	probably benign	0.00
thrilled	UTSW	8	55,149,303 (GRCm39)	critical splice donor site	probably null
IGL03138:Wdr17	UTSW	8	55,102,178 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Wdr17	UTSW	8	55,126,614 (GRCm39)	nonsense	probably null
R0011:Wdr17	UTSW	8	55,125,536 (GRCm39)	missense	possibly damaging	0.87
R0011:Wdr17	UTSW	8	55,125,536 (GRCm39)	missense	possibly damaging	0.87
R0124:Wdr17	UTSW	8	55,088,526 (GRCm39)	missense	probably damaging	1.00
R0226:Wdr17	UTSW	8	55,116,043 (GRCm39)	missense	probably benign	0.08
R0270:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0271:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0321:Wdr17	UTSW	8	55,149,303 (GRCm39)	critical splice donor site	probably null
R0464:Wdr17	UTSW	8	55,123,427 (GRCm39)	splice site	probably benign
R0479:Wdr17	UTSW	8	55,104,456 (GRCm39)	splice site	probably null
R0488:Wdr17	UTSW	8	55,146,087 (GRCm39)	unclassified	probably benign
R0552:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0553:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0600:Wdr17	UTSW	8	55,114,530 (GRCm39)	missense	probably damaging	1.00
R0621:Wdr17	UTSW	8	55,096,226 (GRCm39)	missense	probably benign	0.18
R0655:Wdr17	UTSW	8	55,102,233 (GRCm39)	missense	probably damaging	1.00
R0730:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0789:Wdr17	UTSW	8	55,112,607 (GRCm39)	splice site	probably benign
R0854:Wdr17	UTSW	8	55,156,916 (GRCm39)	missense	probably benign
R0879:Wdr17	UTSW	8	55,114,516 (GRCm39)	missense	probably benign	0.08
R1462:Wdr17	UTSW	8	55,123,363 (GRCm39)	missense	probably damaging	1.00
R1462:Wdr17	UTSW	8	55,123,363 (GRCm39)	missense	probably damaging	1.00
R1497:Wdr17	UTSW	8	55,125,536 (GRCm39)	missense	possibly damaging	0.87
R1589:Wdr17	UTSW	8	55,156,942 (GRCm39)	intron	probably benign
R1618:Wdr17	UTSW	8	55,092,930 (GRCm39)	missense	probably damaging	1.00
R1768:Wdr17	UTSW	8	55,126,689 (GRCm39)	missense	possibly damaging	0.84
R1778:Wdr17	UTSW	8	55,143,249 (GRCm39)	missense	probably damaging	1.00
R1819:Wdr17	UTSW	8	55,143,159 (GRCm39)	missense	probably benign	0.18
R1913:Wdr17	UTSW	8	55,140,761 (GRCm39)	missense	probably damaging	1.00
R2129:Wdr17	UTSW	8	55,085,416 (GRCm39)	missense	probably damaging	1.00
R2132:Wdr17	UTSW	8	55,125,541 (GRCm39)	missense	probably damaging	1.00
R2309:Wdr17	UTSW	8	55,096,283 (GRCm39)	missense	probably benign
R3882:Wdr17	UTSW	8	55,092,536 (GRCm39)	missense	possibly damaging	0.53
R4097:Wdr17	UTSW	8	55,088,504 (GRCm39)	missense	probably damaging	1.00
R4372:Wdr17	UTSW	8	55,092,930 (GRCm39)	missense	probably damaging	1.00
R4380:Wdr17	UTSW	8	55,101,442 (GRCm39)	intron	probably benign
R4480:Wdr17	UTSW	8	55,117,999 (GRCm39)	critical splice donor site	probably null
R4654:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R4656:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R4669:Wdr17	UTSW	8	55,143,083 (GRCm39)	missense	possibly damaging	0.72
R4719:Wdr17	UTSW	8	55,092,911 (GRCm39)	missense	probably benign	0.33
R4912:Wdr17	UTSW	8	55,082,896 (GRCm39)	missense	probably damaging	1.00
R5000:Wdr17	UTSW	8	55,118,161 (GRCm39)	missense	possibly damaging	0.82
R5073:Wdr17	UTSW	8	55,143,271 (GRCm39)	critical splice acceptor site	probably null
R5176:Wdr17	UTSW	8	55,106,913 (GRCm39)	critical splice donor site	probably null
R5194:Wdr17	UTSW	8	55,140,639 (GRCm39)	missense	probably damaging	1.00
R5270:Wdr17	UTSW	8	55,096,221 (GRCm39)	missense	probably benign	0.20
R5300:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R5325:Wdr17	UTSW	8	55,112,716 (GRCm39)	missense	possibly damaging	0.85
R5336:Wdr17	UTSW	8	55,085,353 (GRCm39)	missense	probably damaging	1.00
R5394:Wdr17	UTSW	8	55,092,524 (GRCm39)	missense	possibly damaging	0.73
R5424:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R5425:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R5426:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R5548:Wdr17	UTSW	8	55,156,886 (GRCm39)	missense	probably damaging	0.97
R5681:Wdr17	UTSW	8	55,115,904 (GRCm39)	missense	probably damaging	1.00
R5722:Wdr17	UTSW	8	55,113,806 (GRCm39)	critical splice donor site	probably null
R5894:Wdr17	UTSW	8	55,149,335 (GRCm39)	missense	probably damaging	1.00
R5906:Wdr17	UTSW	8	55,092,503 (GRCm39)	missense	probably benign	0.33
R6038:Wdr17	UTSW	8	55,085,346 (GRCm39)	critical splice donor site	probably null
R6038:Wdr17	UTSW	8	55,085,346 (GRCm39)	critical splice donor site	probably null
R6391:Wdr17	UTSW	8	55,114,495 (GRCm39)	missense	probably benign	0.04
R6605:Wdr17	UTSW	8	55,134,559 (GRCm39)	missense	probably benign	0.16
R6892:Wdr17	UTSW	8	55,126,631 (GRCm39)	missense	probably damaging	1.00
R7019:Wdr17	UTSW	8	55,134,488 (GRCm39)	missense	probably damaging	1.00
R7257:Wdr17	UTSW	8	55,085,522 (GRCm39)	missense	probably benign	0.00
R7481:Wdr17	UTSW	8	55,114,371 (GRCm39)	missense	probably benign
R7868:Wdr17	UTSW	8	55,149,302 (GRCm39)	critical splice donor site	probably null
R7939:Wdr17	UTSW	8	55,140,677 (GRCm39)	missense	probably damaging	0.98
R7962:Wdr17	UTSW	8	55,113,806 (GRCm39)	critical splice donor site	probably null
R8017:Wdr17	UTSW	8	55,091,403 (GRCm39)	missense	possibly damaging	0.73
R8122:Wdr17	UTSW	8	55,118,011 (GRCm39)	missense	probably damaging	1.00
R8226:Wdr17	UTSW	8	55,146,155 (GRCm39)	missense	possibly damaging	0.52
R8251:Wdr17	UTSW	8	55,110,267 (GRCm39)	missense	probably damaging	1.00
R8413:Wdr17	UTSW	8	55,115,953 (GRCm39)	missense	probably benign	0.08
R8534:Wdr17	UTSW	8	55,101,265 (GRCm39)	missense	probably benign	0.08
R8708:Wdr17	UTSW	8	55,093,127 (GRCm39)	intron	probably benign
R9116:Wdr17	UTSW	8	55,114,605 (GRCm39)	missense	probably damaging	1.00
R9258:Wdr17	UTSW	8	55,112,654 (GRCm39)	nonsense	probably null
R9351:Wdr17	UTSW	8	55,143,057 (GRCm39)	missense	probably benign	0.00
R9475:Wdr17	UTSW	8	55,088,512 (GRCm39)	missense	probably benign	0.00
R9546:Wdr17	UTSW	8	55,112,735 (GRCm39)	missense	probably damaging	1.00
R9547:Wdr17	UTSW	8	55,112,735 (GRCm39)	missense	probably damaging	1.00
R9635:Wdr17	UTSW	8	55,101,375 (GRCm39)	missense	probably damaging	0.98
V5088:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
V5622:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
V5622:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
X0022:Wdr17	UTSW	8	55,092,529 (GRCm39)	missense	probably benign	0.04
X0066:Wdr17	UTSW	8	55,126,595 (GRCm39)	missense	probably damaging	1.00
Z1177:Wdr17	UTSW	8	55,123,414 (GRCm39)	missense	probably damaging	1.00
Z1177:Wdr17	UTSW	8	55,096,220 (GRCm39)	missense	probably benign	0.03

Predicted Primers

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

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

Posted On

2013-04-16