Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Wdr17'

177730

Institutional Source

Beutler Lab

Gene Symbol

Wdr17

Ensembl Gene

ENSMUSG00000039375

Gene Name

WD repeat domain 17

Synonyms

B230207L18Rik, 3010002I12Rik

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54629055-54887184 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 54703907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134978 (fasta)

Gene Model

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

AlphaFold

E9Q271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126316

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000129132

SMART Domains

Protein: ENSMUSP00000134935
Gene: ENSMUSG00000039375

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: 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 benign
Transcript: ENSMUST00000148408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148806

Predicted Effect

probably benign
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

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000176866

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,441		probably benign	Het
Aadacl2	C	T	3: 60,010,576	T82I	probably benign	Het
Acadl	T	C	1: 66,853,223	N147S	probably benign	Het
Actr3	A	T	1: 125,408,563	M79K	probably damaging	Het
Agbl3	A	G	6: 34,857,517	S874G	possibly damaging	Het
Aoah	A	T	13: 21,002,948	T472S	probably damaging	Het
Asb16	A	T	11: 102,268,995	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575	D172G	probably benign	Het
Bax	T	C	7: 45,465,247	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,591,859	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,651,266		probably benign	Het
Cand1	A	G	10: 119,213,566	L425P	probably damaging	Het
Caskin1	G	A	17: 24,505,478		probably null	Het
Cd248	C	T	19: 5,069,932	P603S	probably benign	Het
Cep95	G	T	11: 106,800,104	R143L	probably benign	Het
Clptm1l	G	T	13: 73,614,673		probably null	Het
Cntnap5a	T	C	1: 116,060,200	F154L	possibly damaging	Het
Cyld	A	T	8: 88,709,990	I303F	possibly damaging	Het
Dock2	A	G	11: 34,706,461	S370P	probably damaging	Het
Enah	G	T	1: 181,922,293	T327K	probably damaging	Het
Farp2	A	T	1: 93,579,860	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,733,612	T301M	probably damaging	Het
Foxc2	A	T	8: 121,117,176	T188S	probably benign	Het
Fzd2	A	G	11: 102,606,328	T533A	probably benign	Het
Glb1l2	G	T	9: 26,769,038	S248*	probably null	Het
Glul	A	T	1: 153,905,538		probably benign	Het
Gm28042	A	G	2: 120,041,406	T946A	probably benign	Het
Golga3	T	A	5: 110,181,783	D2E	probably damaging	Het
Grm1	A	T	10: 10,719,967	F639Y	probably benign	Het
Gzmn	A	G	14: 56,165,911	L247P	probably benign	Het
Hgf	T	G	5: 16,613,785	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,831,332	D719E	probably benign	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itga9	T	C	9: 118,607,117		probably null	Het
Itgb1	T	A	8: 128,705,458	C16S	probably damaging	Het
Itgb1	G	T	8: 128,705,459	C16F	possibly damaging	Het
Kat14	A	G	2: 144,394,100	I251V	probably benign	Het
Kdsr	A	T	1: 106,734,541		probably null	Het
Kif12	T	A	4: 63,166,500	E527V	probably benign	Het
Larp1b	T	C	3: 41,033,474	S44P	probably damaging	Het
Lonp2	T	C	8: 86,673,072		probably benign	Het
Lrp1	C	T	10: 127,605,606	S216N	probably benign	Het
Lrrc19	T	C	4: 94,640,950	S32G	probably benign	Het
Mdm2	G	A	10: 117,690,529	T335M	probably benign	Het
Mettl25	A	G	10: 105,779,632	Y504H	probably damaging	Het
Mill1	T	C	7: 18,245,647	I13T	probably benign	Het
Mmachc	T	A	4: 116,703,524	Q258L	probably benign	Het
Mpdz	T	A	4: 81,421,176	I5L	probably benign	Het
Mrps2	C	T	2: 28,469,488	A119V	probably benign	Het
Mtmr11	A	G	3: 96,168,113	T370A	probably benign	Het
Nmi	T	C	2: 51,958,977	I34V	possibly damaging	Het
Obscn	A	T	11: 59,036,075	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,325,865	I24T	probably benign	Het
Olfr1477	C	T	19: 13,502,757	T138M	probably benign	Het
Olfr675	A	G	7: 105,024,560	V140A	probably benign	Het
Olfr703	A	G	7: 106,845,196	Y195C	possibly damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Omp	G	T	7: 98,145,359	D20E	probably benign	Het
Otog	A	G	7: 46,283,908	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,423,292	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,463,986	I481V	probably benign	Het
Rbp3	A	T	14: 33,955,792	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,905,529	D125G	probably benign	Het
Scn11a	A	G	9: 119,769,807	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,674,381	G264D	probably benign	Het
Slc4a10	T	C	2: 62,257,462	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,845,447	V8I	probably benign	Het
Soga1	A	T	2: 157,027,637	M1026K	probably benign	Het
Spen	T	C	4: 141,488,024	D499G	unknown	Het
Stk32c	A	G	7: 139,119,015		probably null	Het
Tars	A	G	15: 11,388,175	V485A	probably benign	Het
Tcerg1l	A	G	7: 138,361,767	L258P	probably damaging	Het
Tmc2	A	T	2: 130,247,960	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,354,706	N220K	probably damaging	Het
Tnni3	T	C	7: 4,520,526	D146G	probably damaging	Het
Trappc11	G	T	8: 47,501,680	D908E	probably damaging	Het
Trappc8	A	G	18: 20,863,551	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,776,390	V1176I	probably benign	Het
Ube2b	A	G	11: 51,997,872	V24A	probably benign	Het
Usp30	T	C	5: 114,112,961	C233R	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,806,520		probably benign	Het
Vmn2r81	C	A	10: 79,293,024	T583N	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wdr1	C	A	5: 38,529,972	V239L	probably benign	Het
Zfhx4	A	C	3: 5,241,729	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,171,745		probably null	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
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
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'- AGGGTAGAACTCATCTAGCGTGCAG -3'
(R):5'- TGGGCAACACAAAATGAACTCCCTG -3'

Sequencing Primer
(F):5'- TAGGGTTCACTCACAACTGAAAAAG -3'
(R):5'- tgtttttgtttgtttgtttggtttg -3'

Posted On

2014-04-24