Mutagenetix > Incidental Mutation

Incidental Mutation 'R5176:Wdr17'

399292

Institutional Source

Beutler Lab

Gene Symbol

Wdr17

Ensembl Gene

ENSMUSG00000039375

Gene Name

WD repeat domain 17

Synonyms

B230207L18Rik, 3010002I12Rik

MMRRC Submission

042756-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54629055-54887184 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 54653878 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135805 (fasta)

Gene Model

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

AlphaFold

E9Q271

Predicted Effect

probably null
Transcript: ENSMUST00000127511

SMART Domains

Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375

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 null
Transcript: ENSMUST00000144711

SMART Domains

Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375

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 null
Transcript: ENSMUST00000150488

SMART Domains

Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375

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

noncoding transcript
Transcript: ENSMUST00000153074

Predicted Effect

probably null
Transcript: ENSMUST00000175915

SMART Domains

Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375

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

0.9484

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (69/70)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abca7	C	A	10: 79,998,289	H116Q	probably benign	Het
Akap12	G	T	10: 4,353,947	E252D	probably benign	Het
Apobr	A	G	7: 126,585,016	D2G	probably damaging	Het
Arhgef12	A	T	9: 43,020,686	H168Q	probably damaging	Het
Asb3	T	A	11: 31,081,357		probably null	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Cacna1b	A	T	2: 24,635,131	Y1679N	probably damaging	Het
Ccdc69	C	T	11: 55,060,470	A42T	probably benign	Het
Cds1	G	T	5: 101,781,420	D55Y	possibly damaging	Het
Cep135	C	A	5: 76,637,026	D989E	probably benign	Het
Cpsf6	C	A	10: 117,361,284		probably benign	Het
Ctif	C	T	18: 75,637,219	V32M	probably damaging	Het
Cylc2	T	C	4: 51,228,587		probably benign	Het
Dao	T	C	5: 114,020,009		probably null	Het
Dopey1	T	A	9: 86,521,815	N1689K	probably damaging	Het
Dopey2	A	G	16: 93,740,043	Y14C	probably damaging	Het
E130309D02Rik	G	T	5: 143,315,075	S7*	probably null	Het
Fam160b1	A	G	19: 57,371,181	N51S	probably damaging	Het
Fam187a	C	T	11: 102,886,464	R365C	probably damaging	Het
Fastkd2	A	G	1: 63,731,439		probably benign	Het
Fkbp15	G	T	4: 62,312,323	L718I	possibly damaging	Het
Gabbr2	C	A	4: 46,681,208	V118F	probably damaging	Het
Gm11492	T	A	11: 87,567,532	M244K	probably benign	Het
Gm13991	T	A	2: 116,528,027		noncoding transcript	Het
H2-M9	T	C	17: 36,641,631	I174M	probably damaging	Het
Insr	T	A	8: 3,158,742	M1240L	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Mad2l1bp	T	A	17: 46,152,812	E95D	probably benign	Het
March9	T	C	10: 127,059,450	D102G	probably benign	Het
Muc19	A	G	15: 91,892,180		noncoding transcript	Het
Nr1h4	T	A	10: 89,498,255	Y91F	probably benign	Het
Nr5a2	A	T	1: 136,948,802	M1K	probably null	Het
Olfr561	T	A	7: 102,775,306	S261T	probably damaging	Het
Olfr836	A	T	9: 19,121,360	Y132F	probably damaging	Het
Olfr998	A	C	2: 85,591,435	K298N	possibly damaging	Het
Oprd1	T	C	4: 132,113,793	T285A	probably benign	Het
Optc	T	C	1: 133,902,084	N196S	probably benign	Het
Panx2	G	T	15: 89,060,228	R52L	probably damaging	Het
Pdzd8	A	G	19: 59,344,957	F211L	probably damaging	Het
Pot1b	T	A	17: 55,699,995	T41S	probably benign	Het
Prss56	T	C	1: 87,184,158	L37S	probably damaging	Het
Ptk2b	T	C	14: 66,156,415	T870A	probably damaging	Het
Rabep2	C	A	7: 126,434,293		probably benign	Het
Rbm48	A	C	5: 3,595,444	V80G	probably damaging	Het
Rhou	G	T	8: 123,654,109	C55F	possibly damaging	Het
Rnaseh2c	A	G	19: 5,602,042	D45G	probably benign	Het
Rusc1	A	G	3: 89,089,082	S109P	probably damaging	Het
Ryr3	T	C	2: 112,757,667	D2643G	possibly damaging	Het
Sik2	T	C	9: 50,899,403	E471G	probably benign	Het
Sipa1	A	G	19: 5,659,378	S310P	probably damaging	Het
Spen	T	C	4: 141,476,276	E1680G	unknown	Het
Steap3	C	T	1: 120,243,767		probably null	Het
Tmeff2	T	A	1: 51,071,541	C171*	probably null	Het
Tmem138	A	T	19: 10,575,270	M33K	probably benign	Het
Trappc11	C	A	8: 47,510,963	V601L	possibly damaging	Het
Ttc30a2	T	C	2: 75,977,077	M364V	probably benign	Het
Ttll4	C	A	1: 74,679,286	H99N	probably damaging	Het
Uchl4	A	T	9: 64,235,740	K168*	probably null	Het
Xpo1	A	G	11: 23,295,977	D1029G	probably damaging	Het
Zfp719	G	T	7: 43,591,125	K712N	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
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
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
R9635:Wdr17	UTSW	8	54648340	missense	probably damaging	0.98
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'- CGAGACACCCTTGTTTGAATAAAA -3'
(R):5'- CCAGTTGACAAATGTTAAAACTAACA -3'

Sequencing Primer
(F):5'- GACACCCTTGTTTGAATAAAAAGGTC -3'
(R):5'- TTAGGAGAGCTGACCAGT -3'

Posted On

2016-07-06