Mutagenetix > Incidental Mutations

Incidental Mutation 'R1462:Wdr17'

186320

Institutional Source

Beutler Lab

Gene Symbol

Wdr17

Ensembl Gene

ENSMUSG00000039375

Gene Name

WD repeat domain 17

Synonyms

B230207L18Rik, 3010002I12Rik

MMRRC Submission

039516-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54629055-54887184 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54670328 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 479 (I479K)

Ref Sequence

ENSEMBL: ENSMUSP00000117710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127511] [ENSMUST00000144482] [ENSMUST00000144711] [ENSMUST00000150488] [ENSMUST00000175915]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126316

Predicted Effect

probably damaging
Transcript: ENSMUST00000127511
AA Change: I496K

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

SMART Domains

Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: I496K

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: ENSMUST00000144482
AA Change: I183K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134950
Gene: ENSMUSG00000039375
AA Change: I183K

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 damaging
Transcript: ENSMUST00000144711
AA Change: I479K

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

SMART Domains

Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: I479K

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: I472K

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

SMART Domains

Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: I472K

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: I472K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: I472K

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

0.8036

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,992,946	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,785,481		probably benign	Het
Abca13	T	A	11: 9,483,924		probably benign	Het
Abca9	T	C	11: 110,160,516	D118G	probably benign	Het
AC239677.1	T	A	5: 25,951,625	I119F	possibly damaging	Het
Adamts16	A	G	13: 70,836,134	F137L	probably benign	Het
Adamts3	T	C	5: 89,861,349	I152V	probably benign	Het
Adcy4	T	A	14: 55,778,308	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,875,829	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,784,953		probably benign	Het
Bhlhe22	C	G	3: 18,055,782	S332C	probably damaging	Het
Card19	T	A	13: 49,205,284	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,656,594	L11P	probably damaging	Het
Ccdc129	A	G	6: 55,975,664	H864R	probably damaging	Het
Cdadc1	A	G	14: 59,575,858	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,408,362	Q542K	possibly damaging	Het
Cep170	T	C	1: 176,756,645	K723E	possibly damaging	Het
Cep70	A	G	9: 99,263,720	I147V	probably benign	Het
Cfap58	A	T	19: 47,962,430	H410L	probably damaging	Het
Chat	T	C	14: 32,420,778	K418R	probably damaging	Het
Cic	T	G	7: 25,271,607	D254E	probably damaging	Het
Ckap4	T	C	10: 84,527,567	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,921,819	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,392,188	N418D	probably damaging	Het
Daam1	A	T	12: 71,944,142	I177L	unknown	Het
Dnah1	T	C	14: 31,268,781		probably benign	Het
Ercc5	A	G	1: 44,180,624	T1019A	probably damaging	Het
F13b	T	A	1: 139,507,636	V173E	probably damaging	Het
Fam126a	A	G	5: 23,985,732		probably benign	Het
Fam135b	A	G	15: 71,621,996		probably benign	Het
Fam20a	A	C	11: 109,677,317	F316V	probably damaging	Het
Flrt2	T	C	12: 95,779,338	V150A	probably damaging	Het
Fnta	A	C	8: 25,999,571		probably null	Het
Ghsr	A	G	3: 27,371,876	D27G	probably benign	Het
Glis3	G	T	19: 28,262,518		probably benign	Het
Gm5155	T	G	7: 17,915,591		noncoding transcript	Het
Gtpbp1	A	G	15: 79,707,885	N96D	probably damaging	Het
H1fnt	A	T	15: 98,256,573	W232R	unknown	Het
Ibtk	A	T	9: 85,724,145	I443N	probably damaging	Het
Ifi207	T	C	1: 173,724,947	H968R	probably damaging	Het
Ifit2	A	G	19: 34,573,186	D42G	probably null	Het
Il17rc	A	T	6: 113,478,989	D265V	probably damaging	Het
Ints10	G	A	8: 68,807,644		probably benign	Het
Itfg2	T	C	6: 128,424,728	D29G	probably damaging	Het
Kcng3	A	T	17: 83,631,063	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,442,265	F295L	probably benign	Het
Mrps28	T	A	3: 8,900,124	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,522,758	K37M	possibly damaging	Het
Mug1	C	T	6: 121,882,629	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204		probably benign	Het
Mybl2	T	C	2: 163,072,708	S249P	probably benign	Het
Naip6	A	G	13: 100,300,240	Y592H	possibly damaging	Het
Nrp1	A	G	8: 128,502,798	N919S	probably benign	Het
Nudt9	C	T	5: 104,065,038	Q326*	probably null	Het
Olfr1136	A	T	2: 87,693,376	C169S	probably damaging	Het
Olfr813	A	G	10: 129,857,231	T238A	probably damaging	Het
Olfr827	T	A	10: 130,210,723	I136F	probably benign	Het
Olfr829	T	A	9: 18,857,111	M162K	probably benign	Het
Pcsk4	T	C	10: 80,325,981	E142G	probably damaging	Het
Pde3a	C	A	6: 141,459,834	P471T	probably benign	Het
Pign	A	T	1: 105,585,002	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,582,449	M420K	probably damaging	Het
Prr14	T	A	7: 127,473,988		probably null	Het
Rchy1	T	A	5: 91,957,882	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,681,560		probably benign	Het
Sec23ip	T	G	7: 128,766,138	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,746,614	S47P	probably damaging	Het
Stil	G	A	4: 115,023,964	M568I	probably benign	Het
Syt3	T	A	7: 44,396,010	V558E	probably damaging	Het
Sytl3	A	G	17: 6,706,031		probably benign	Het
Szt2	A	G	4: 118,373,967	V2533A	unknown	Het
Tenm4	A	G	7: 96,704,153	Y384C	probably damaging	Het
Tfam	T	C	10: 71,235,550	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,664,304	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,573,705	Y15*	probably null	Het
Uhrf1	C	T	17: 56,318,035	A526V	probably damaging	Het
Vmn2r67	T	C	7: 85,155,838	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,597,398	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 85,310,352		noncoding transcript	Het
Wt1	T	C	2: 105,166,831	V371A	probably damaging	Het
Zfp536	G	T	7: 37,479,310	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,076,479	V560A	probably benign	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	intron	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
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
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
R7951:Wdr17	UTSW	8	54696267	critical splice donor site	probably null
R8122:Wdr17	UTSW	8	54664976	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'- TGATGAGTCACACCAATATAGGCACCA -3'
(R):5'- ACAGTCTTGGAGAGTTGAGGATCACAT -3'

Sequencing Primer
(F):5'- CACACCAATATAGGCACCAATATAAG -3'
(R):5'- gcacacatcatatcacacacatatac -3'

Posted On

2014-05-09