Mutagenetix > Incidental Mutation

Incidental Mutation 'R9546:Wdr17'

720116

Institutional Source

Beutler Lab

Gene Symbol

Wdr17

Ensembl Gene

ENSMUSG00000039375

Gene Name

WD repeat domain 17

Synonyms

B230207L18Rik, 3010002I12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9546 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55082316-55180014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55112735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 789 (F789I)

Ref Sequence

ENSEMBL: ENSMUSP00000117710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127511] [ENSMUST00000144711] [ENSMUST00000150488] [ENSMUST00000175915]

AlphaFold

E9Q271

Predicted Effect

probably damaging
Transcript: ENSMUST00000127511
AA Change: F806I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: F806I

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 damaging
Transcript: ENSMUST00000144711
AA Change: F789I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: F789I

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 damaging
Transcript: ENSMUST00000150488
AA Change: F782I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: F782I

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: F782I

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: F782I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	A	11: 110,135,042 (GRCm39)	Q248*	probably null	Het
Adgrf4	A	T	17: 42,978,283 (GRCm39)	C353*	probably null	Het
Aifm3	T	C	16: 17,317,604 (GRCm39)	V75A	probably benign	Het
Apc	A	G	18: 34,445,311 (GRCm39)	K736E	possibly damaging	Het
Atad2	A	G	15: 57,989,973 (GRCm39)	S168P	probably damaging	Het
Ccdc122	T	A	14: 77,306,313 (GRCm39)	V28E	probably damaging	Het
Cd5l	T	C	3: 87,268,201 (GRCm39)	V16A	probably benign	Het
Cdk11b	T	C	4: 155,733,589 (GRCm39)	S682P	unknown	Het
Chd8	T	C	14: 52,453,408 (GRCm39)	I1218V	probably damaging	Het
Clec1b	A	C	6: 129,382,167 (GRCm39)	I215L	probably benign	Het
Dnah14	A	C	1: 181,420,992 (GRCm39)		probably null	Het
Ednrb	T	C	14: 104,080,459 (GRCm39)	I152V	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Epn2	T	C	11: 61,437,407 (GRCm39)	E55G	probably damaging	Het
Ern1	A	G	11: 106,300,853 (GRCm39)	S514P	probably benign	Het
Fbxo4	G	A	15: 3,998,493 (GRCm39)	P322S	probably damaging	Het
Gli3	T	A	13: 15,788,443 (GRCm39)	D149E	probably benign	Het
Gm12258	A	G	11: 58,749,922 (GRCm39)	K366E	unknown	Het
Gm9195	G	T	14: 72,718,347 (GRCm39)	H110N	possibly damaging	Het
Grb10	A	G	11: 11,893,919 (GRCm39)	I389T	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hexb	T	C	13: 97,322,176 (GRCm39)	D203G	probably damaging	Het
Hhatl	A	G	9: 121,618,649 (GRCm39)	Y118H	probably damaging	Het
Ighv1-69	A	G	12: 115,586,885 (GRCm39)	F83L	possibly damaging	Het
Iglon5	A	T	7: 43,123,891 (GRCm39)	M336K	probably benign	Het
Iyd	A	T	10: 3,501,884 (GRCm39)	I177F	possibly damaging	Het
Kdm4c	A	C	4: 74,323,104 (GRCm39)	D1012A	possibly damaging	Het
Klhl12	T	A	1: 134,413,562 (GRCm39)	L349Q	probably damaging	Het
Lrp2	A	G	2: 69,287,165 (GRCm39)		probably null	Het
Mrm2	T	A	5: 140,314,334 (GRCm39)	H167L	probably damaging	Het
Mrpl50	T	A	4: 49,514,338 (GRCm39)	H111L	probably damaging	Het
Mtcl3	C	A	10: 29,022,805 (GRCm39)	R51S	probably damaging	Het
Nags	A	T	11: 102,039,081 (GRCm39)	T471S	probably damaging	Het
Nod2	A	T	8: 89,379,621 (GRCm39)	R41W	probably benign	Het
Notch1	T	A	2: 26,371,127 (GRCm39)	N320Y	probably damaging	Het
Nr2c1	A	G	10: 94,026,528 (GRCm39)	K468E	possibly damaging	Het
Nsf	G	A	11: 103,801,275 (GRCm39)	Q247*	probably null	Het
Obsl1	T	C	1: 75,482,030 (GRCm39)	H280R	probably damaging	Het
Or4p20	T	C	2: 88,254,049 (GRCm39)	M107V	probably benign	Het
Pcdha3	C	T	18: 37,079,389 (GRCm39)	R44C	probably damaging	Het
Pcsk4	A	G	10: 80,157,741 (GRCm39)	S623P	possibly damaging	Het
Pdcd6ip	A	T	9: 113,484,174 (GRCm39)	Y818N	unknown	Het
Plk2	T	A	13: 110,535,301 (GRCm39)	I445K	possibly damaging	Het
Pramel51	C	A	12: 88,148,651 (GRCm39)		probably benign	Het
Prdm2	A	T	4: 142,861,561 (GRCm39)	S576R	probably damaging	Het
Prl3d1	A	T	13: 27,278,982 (GRCm39)	Y59F	probably benign	Het
Ptprj	C	T	2: 90,274,805 (GRCm39)	V1186I	probably benign	Het
Raly	AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG	AGCAGCAGTGGTGGAGG	2: 154,705,754 (GRCm39)		probably benign	Het
Ros1	C	T	10: 51,994,215 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,602,101 (GRCm39)		probably null	Het
Scn7a	A	T	2: 66,582,603 (GRCm39)	I98N	possibly damaging	Het
Spi1	T	A	2: 90,943,617 (GRCm39)	S54T	probably benign	Het
Ssna1	C	T	2: 25,162,316 (GRCm39)	V16I	probably benign	Het
Sult3a2	G	A	10: 33,655,670 (GRCm39)	P103L	possibly damaging	Het
Syne1	C	T	10: 5,193,123 (GRCm39)	G3975D	probably damaging	Het
Tbc1d1	T	C	5: 64,330,950 (GRCm39)	V43A	possibly damaging	Het
Tut4	A	G	4: 108,370,429 (GRCm39)	D776G	probably benign	Het
Uba5	A	G	9: 103,931,567 (GRCm39)	S222P	probably damaging	Het
Vmn2r24	A	C	6: 123,764,266 (GRCm39)	E381A	probably damaging	Het
Vmn2r95	G	A	17: 18,661,721 (GRCm39)	G489D	probably benign	Het
Xpnpep1	A	T	19: 52,990,959 (GRCm39)	L422Q	probably damaging	Het
Zfand3	T	A	17: 30,372,302 (GRCm39)	H107Q	probably benign	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
R0288: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
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'- AATTACTCCTTCCCGTGTGG -3'
(R):5'- AAACCGCTTATTCCATGAACTGATC -3'

Sequencing Primer
(F):5'- GGGCTGCTATGTTAGACACACTAC -3'
(R):5'- AGAGGTCCTGAGTTCACCTAG -3'

Posted On

2022-07-18