Mutagenetix > Incidental Mutation

Incidental Mutation 'R7257:Wdr17'

564341

Institutional Source

Beutler Lab

Gene Symbol

Wdr17

Ensembl Gene

ENSMUSG00000039375

Gene Name

WD repeat domain 17

Synonyms

B230207L18Rik, 3010002I12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54629055-54887184 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54632487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1200 (E1200D)

Ref Sequence

ENSEMBL: ENSMUSP00000117710 (fasta)

Gene Model

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

AlphaFold

E9Q271

Predicted Effect

probably benign
Transcript: ENSMUST00000127511
AA Change: E1225D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: E1225D

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: ENSMUST00000144711
AA Change: E1200D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: E1200D

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: ENSMUST00000150488
AA Change: E1193D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: E1193D

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: ENSMUST00000175915
AA Change: E1186D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: E1186D

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

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,839,452	V120E	probably benign	Het
Acot11	G	A	4: 106,758,402	T284M	probably damaging	Het
Adk	G	T	14: 21,052,671	K11N	probably damaging	Het
Akr1c14	T	A	13: 4,088,966	N316K	probably benign	Het
AL732309.1	A	T	2: 25,245,839	V121D	probably benign	Het
Amh	C	A	10: 80,806,653	Q257K	probably benign	Het
Antxrl	T	G	14: 34,065,849	H276Q	probably benign	Het
Atp5o	G	A	16: 91,926,867	T105M	probably damaging	Het
Atp5s	T	C	12: 69,741,669	I114T	probably damaging	Het
Atxn2	T	G	5: 121,785,817	N734K	possibly damaging	Het
B3gat3	T	A	19: 8,925,738	V153D	probably benign	Het
Brd2	A	G	17: 34,113,822	V528A	probably damaging	Het
Camk2g	T	C	14: 20,747,839	S335G	probably benign	Het
Cbln2	T	A	18: 86,716,734	W211R	probably damaging	Het
Cry2	A	T	2: 92,412,981	I505N	possibly damaging	Het
Ddx55	T	A	5: 124,560,721	C249S	possibly damaging	Het
Dglucy	A	G	12: 100,842,738	T232A	probably damaging	Het
Dhx32	A	G	7: 133,759,477	Y76H	probably benign	Het
Dock7	T	A	4: 98,973,412	N1356I	unknown	Het
Dock8	T	A	19: 25,127,085	N710K	probably benign	Het
Dync1i2	T	A	2: 71,249,356	N391K	possibly damaging	Het
Ect2	A	G	3: 27,138,535	S420P	probably damaging	Het
Efcab5	T	A	11: 77,137,779	E242V	probably damaging	Het
Fam83g	T	A	11: 61,684,753	Y74N	probably damaging	Het
Fbxo34	T	A	14: 47,500,872		probably null	Het
Flt4	A	G	11: 49,626,009	T208A	probably benign	Het
Fxyd5	T	A	7: 31,035,151	H183L	unknown	Het
Gpr150	T	G	13: 76,056,466	D120A	probably benign	Het
Grm7	A	G	6: 110,646,118	Y84C	probably damaging	Het
Ighmbp2	A	G	19: 3,266,405	S562P	probably damaging	Het
Itga7	A	G	10: 128,944,413	Y530C	possibly damaging	Het
Itpr3	T	A	17: 27,118,561	D2448E	probably benign	Het
Mmp17	C	A	5: 129,595,633	H216Q	probably benign	Het
Mns1	C	T	9: 72,452,815	R416W	probably damaging	Het
Mog	A	G	17: 37,023,127	S25P	unknown	Het
Myh2	A	G	11: 67,181,150	K568R	possibly damaging	Het
Myh7	A	T	14: 54,972,490		probably null	Het
Mymk	A	T	2: 27,067,368	W79R	probably damaging	Het
Ncoa4	T	G	14: 32,177,369	L623R	probably damaging	Het
Oca2	G	A	7: 56,279,538		probably benign	Het
Odam	A	C	5: 87,887,545	S123R	probably benign	Het
Olfr1155	A	G	2: 87,943,571	F19S	probably damaging	Het
Olfr263	A	G	13: 21,133,257	T161A	probably benign	Het
Olfr292	T	A	7: 86,694,804	M116K	probably damaging	Het
Olfr583	T	C	7: 103,051,630	F111L	probably benign	Het
Olfr765	C	T	10: 129,046,455	V203M	probably benign	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Ovch2	C	T	7: 107,794,433	C162Y	probably damaging	Het
Padi1	C	A	4: 140,829,471	G142C	probably damaging	Het
Pcdhga4	A	G	18: 37,687,398	I667V	probably damaging	Het
Pfas	A	T	11: 68,992,959	V624E	probably damaging	Het
Phb	A	T	11: 95,678,091	E184V	probably damaging	Het
Phlpp2	G	T	8: 109,940,188	M1116I	probably benign	Het
Pip5kl1	T	C	2: 32,580,431		probably null	Het
Pitpnm2	T	A	5: 124,125,356	I824F	possibly damaging	Het
Pla2g4c	G	A	7: 13,325,744	S2N	possibly damaging	Het
Pla2r1	A	T	2: 60,427,625		probably null	Het
Pole2	T	C	12: 69,202,910	D521G	probably damaging	Het
Ptch1	T	C	13: 63,573,294	K54E	not run	Het
Rapgef2	A	T	3: 79,082,627	L931Q	probably damaging	Het
Rassf3	G	A	10: 121,413,019	Q206*	probably null	Het
Rnf123	T	A	9: 108,069,029	T316S	probably damaging	Het
Rnf138	T	A	18: 21,008,693		probably null	Het
Sept3	G	A	15: 82,289,213	A249T	probably damaging	Het
Slc35a4	A	T	18: 36,679,616	D3V	unknown	Het
Sltm	T	A	9: 70,543,965		probably null	Het
Smarca2	C	T	19: 26,654,464	Q560*	probably null	Het
Tcl1b1	A	T	12: 105,164,531	D91V	probably damaging	Het
Tirap	A	T	9: 35,189,034	V118E	probably damaging	Het
Tlr5	T	A	1: 182,974,233	Y367*	probably null	Het
Tmcc1	A	G	6: 116,107,338	F5L	probably benign	Het
Tnxb	A	G	17: 34,716,501	M2592V	probably benign	Het
Trim66	T	A	7: 109,460,244	E931V	probably damaging	Het
Ttn	A	G	2: 76,741,094	I26485T	probably damaging	Het
Veph1	C	A	3: 66,158,282	V455L	probably benign	Het
Vmn1r125	A	T	7: 21,272,825	H216L	probably damaging	Het
Zbtb37	T	A	1: 161,032,661	N25Y	probably 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	splice site	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
R0730:Wdr17	UTSW	8	54693096	missense	possibly damaging	0.85
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
R7481:Wdr17	UTSW	8	54661336	missense	probably benign
R7868:Wdr17	UTSW	8	54696267	critical splice donor site	probably null
R7939:Wdr17	UTSW	8	54687642	missense	probably damaging	0.98
R7962:Wdr17	UTSW	8	54660771	critical splice donor site	probably null
R8017:Wdr17	UTSW	8	54638368	missense	possibly damaging	0.73
R8122:Wdr17	UTSW	8	54664976	missense	probably damaging	1.00
R8226:Wdr17	UTSW	8	54693120	missense	possibly damaging	0.52
R8251:Wdr17	UTSW	8	54657232	missense	probably damaging	1.00
R8413:Wdr17	UTSW	8	54662918	missense	probably benign	0.08
R8534:Wdr17	UTSW	8	54648230	missense	probably benign	0.08
R8708:Wdr17	UTSW	8	54640092	intron	probably benign
R9116:Wdr17	UTSW	8	54661570	missense	probably damaging	1.00
R9258:Wdr17	UTSW	8	54659619	nonsense	probably null
R9351:Wdr17	UTSW	8	54690022	missense	probably benign	0.00
R9475:Wdr17	UTSW	8	54635477	missense	probably benign	0.00
R9546:Wdr17	UTSW	8	54659700	missense	probably damaging	1.00
R9547:Wdr17	UTSW	8	54659700	missense	probably damaging	1.00
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
Z1177:Wdr17	UTSW	8	54643185	missense	probably benign	0.03
Z1177:Wdr17	UTSW	8	54670379	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCTGATAGTAGATTGTACCTGG -3'
(R):5'- ATGAGCAACTCACCTCTGCAG -3'

Sequencing Primer
(F):5'- GGATTTTTAGTCCAGTAAGACAAGAG -3'
(R):5'- AACTCACCTCTGCAGGCTGTG -3'

Posted On

2019-06-26