Mutagenetix > Incidental Mutations

Incidental Mutation 'R5268:Wdr90'

400005

Institutional Source

Beutler Lab

Gene Symbol

Wdr90

Ensembl Gene

ENSMUSG00000073434

Gene Name

WD repeat domain 90

Synonyms

3230401M21Rik

MMRRC Submission

042860-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5268 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25844771-25861501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25850845 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1173 (L1173P)

Ref Sequence

ENSEMBL: ENSMUSP00000078426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079461] [ENSMUST00000176923]

Predicted Effect

probably damaging
Transcript: ENSMUST00000079461
AA Change: L1173P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
AA Change: L1173P

Domain	Start	End	E-Value	Type
low complexity region	32	53	N/A	INTRINSIC
Pfam:DUF667	60	183	5e-26	PFAM
Pfam:DUF667	210	271	3.7e-9	PFAM
low complexity region	381	396	N/A	INTRINSIC
WD40	478	519	5.94e0	SMART
WD40	522	565	3.2e0	SMART
WD40	572	612	3.3e1	SMART
WD40	687	725	1.15e1	SMART
WD40	728	766	5.75e-1	SMART
WD40	768	808	9.24e-4	SMART
WD40	811	850	4.13e0	SMART
WD40	853	892	4.62e-1	SMART
WD40	950	993	1.07e1	SMART
WD40	996	1035	5.75e-1	SMART
WD40	1040	1077	1.58e-2	SMART
WD40	1290	1334	5.23e-3	SMART
WD40	1337	1378	1.27e-1	SMART
WD40	1384	1419	1.83e2	SMART
WD40	1422	1469	3.08e0	SMART
WD40	1472	1509	9.9e0	SMART
WD40	1568	1607	9.02e-7	SMART
WD40	1610	1655	5.75e-1	SMART
WD40	1659	1697	2.98e-1	SMART
WD40	1700	1749	6.14e1	SMART
WD40	1850	1888	1.92e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176575

Predicted Effect

probably benign
Transcript: ENSMUST00000176678

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176923
AA Change: L1155P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434
AA Change: L1155P

Domain	Start	End	E-Value	Type
low complexity region	32	53	N/A	INTRINSIC
Pfam:DUF667	60	252	5.1e-14	PFAM
low complexity region	363	378	N/A	INTRINSIC
WD40	460	501	5.94e0	SMART
WD40	504	547	3.2e0	SMART
WD40	554	594	3.3e1	SMART
WD40	669	707	1.15e1	SMART
WD40	710	748	5.75e-1	SMART
WD40	750	790	9.24e-4	SMART
WD40	793	832	4.13e0	SMART
WD40	835	874	4.62e-1	SMART
WD40	932	975	1.07e1	SMART
WD40	978	1017	5.75e-1	SMART
WD40	1022	1059	1.58e-2	SMART
WD40	1272	1316	5.23e-3	SMART
WD40	1319	1360	1.27e-1	SMART
WD40	1366	1401	1.83e2	SMART
WD40	1404	1451	3.08e0	SMART
WD40	1454	1491	9.9e0	SMART
WD40	1550	1589	9.02e-7	SMART
WD40	1592	1637	5.75e-1	SMART
WD40	1641	1679	2.98e-1	SMART
WD40	1682	1731	6.14e1	SMART
WD40	1832	1870	1.92e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810032O08Rik	G	T	11: 116,671,756	M18I	probably benign	Het
Adamtsl4	C	A	3: 95,680,163	R701L	probably damaging	Het
Adgrf5	T	C	17: 43,450,999	V1195A	probably damaging	Het
Agpat5	A	G	8: 18,881,862	T333A	possibly damaging	Het
Aspm	G	T	1: 139,464,295	G795C	probably damaging	Het
Car4	C	A	11: 84,965,800	Q305K	probably benign	Het
Catsperg1	T	C	7: 29,195,247	N612S	probably benign	Het
Cdc5l	G	A	17: 45,415,585	R354W	probably damaging	Het
Cdh9	G	A	15: 16,851,013	V623I	probably benign	Het
Cfap65	A	G	1: 74,924,902	V629A	probably benign	Het
Chd1	G	A	17: 15,735,743	V535I	probably damaging	Het
Col12a1	A	G	9: 79,678,047	V1316A	probably damaging	Het
Col6a3	A	T	1: 90,785,243	D1721E	unknown	Het
Cop1	T	A	1: 159,327,164	F647L	probably damaging	Het
Corin	A	C	5: 72,343,019	S421A	probably damaging	Het
Crb2	T	C	2: 37,790,821	V587A	probably damaging	Het
Ctc1	T	A	11: 69,029,810	V646E	possibly damaging	Het
Cyp2a12	A	T	7: 27,031,218	M203L	probably benign	Het
Dcdc2c	T	A	12: 28,516,657	K336M	possibly damaging	Het
Ddx39	G	A	8: 83,722,321	R275H	probably benign	Het
Des	A	G	1: 75,362,928	N310S	possibly damaging	Het
Dlk1	C	A	12: 109,459,838	S212R	probably benign	Het
Dnajc5b	A	G	3: 19,579,060	E149G	probably benign	Het
Dpep1	A	T	8: 123,194,089	I3F	probably benign	Het
Eml6	T	A	11: 29,803,108	R934S	probably benign	Het
Ercc6l2	T	C	13: 63,869,111	L676P	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Frem2	T	A	3: 53,653,154	I1311F	probably damaging	Het
Gldc	T	A	19: 30,145,725	M257L	probably damaging	Het
Gm5538	A	G	3: 59,752,023	E299G	probably damaging	Het
Gm8674	T	G	13: 49,901,354		noncoding transcript	Het
Gnai3	C	T	3: 108,123,541		probably null	Het
Gtf3a	A	G	5: 146,955,155	D300G	probably damaging	Het
Haus3	A	T	5: 34,166,105	V387D	probably damaging	Het
Hpf1	T	A	8: 60,893,734	F28I	possibly damaging	Het
Iars	A	G	13: 49,690,491	D147G	probably damaging	Het
Ibtk	A	T	9: 85,743,690	D2E	probably benign	Het
Ift140	T	A	17: 25,020,627	I86K	possibly damaging	Het
Igf2bp2	T	A	16: 22,079,491	I235F	probably damaging	Het
Ighv3-8	G	T	12: 114,322,632	A30E	probably benign	Het
Kcnq5	T	A	1: 21,505,725	T252S	probably damaging	Het
Lrrc4b	A	T	7: 44,461,363	N220Y	probably damaging	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mamdc4	T	C	2: 25,564,690	T1037A	possibly damaging	Het
Mbd5	A	T	2: 49,272,094	I863F	possibly damaging	Het
Muc4	T	A	16: 32,751,666	S515T	possibly damaging	Het
Mylk4	T	A	13: 32,708,881		probably null	Het
Neu4	G	A	1: 94,024,947	R346H	probably benign	Het
Nxpe5	T	A	5: 138,239,938	Y253*	probably null	Het
Olfml2b	A	T	1: 170,649,761	E155V	probably damaging	Het
Olfr160	T	A	9: 37,712,004	I92F	probably damaging	Het
Olfr2	T	A	7: 107,000,904	N319Y	probably benign	Het
Olfr304	A	G	7: 86,385,659	*334Q	probably null	Het
Pamr1	G	A	2: 102,586,684	A114T	probably damaging	Het
Pdzd2	T	A	15: 12,592,177	N127I	probably damaging	Het
Pglyrp4	C	T	3: 90,726,964	L5F	probably damaging	Het
Plce1	T	A	19: 38,758,835	S1667T	possibly damaging	Het
Qser1	A	T	2: 104,787,431	V1012E	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rcn3	A	T	7: 45,086,779	D168E	probably damaging	Het
Rdh1	T	G	10: 127,759,963	V9G	possibly damaging	Het
Rin2	A	G	2: 145,844,760	T70A	probably benign	Het
Rnf207	T	C	4: 152,313,889	D276G	probably damaging	Het
Rtel1	C	T	2: 181,340,561	S368L	probably benign	Het
Slc15a5	C	A	6: 138,079,753	C55F	probably damaging	Het
Slc36a4	T	C	9: 15,726,916	F213L	possibly damaging	Het
Spata25	C	T	2: 164,828,034	G19D	probably damaging	Het
St5	A	G	7: 109,557,312	L77P	probably benign	Het
Tas2r102	A	T	6: 132,762,397	L89F	probably damaging	Het
Tbc1d1	A	G	5: 64,324,567	K704E	probably damaging	Het
Tert	T	G	13: 73,627,354	S75A	probably damaging	Het
Tiparp	T	A	3: 65,547,565	L195Q	possibly damaging	Het
Tmem205	A	C	9: 21,926,084	Y57*	probably null	Het
Tomm22	A	G	15: 79,671,227	R5G	probably benign	Het
Trav10	A	T	14: 53,506,058	S39C	probably benign	Het
Trav6-2	T	A	14: 52,667,748	N75K	probably benign	Het
Trio	T	C	15: 27,748,286	S2427G	probably benign	Het
Ttc41	C	A	10: 86,744,478	H763N	possibly damaging	Het
Usp29	A	T	7: 6,961,584	N142I	probably damaging	Het
Vmn1r204	G	T	13: 22,556,742	W181L	probably damaging	Het
Vmn2r76	G	A	7: 86,226,059	T570M	probably damaging	Het
Wnt9a	T	A	11: 59,328,570	C141S	probably damaging	Het
Zfp462	A	T	4: 55,012,299	I1422L	probably benign	Het

Other mutations in Wdr90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Wdr90	APN	17	25849364	missense	probably damaging	1.00
IGL01118:Wdr90	APN	17	25854687	missense	probably damaging	1.00
IGL01964:Wdr90	APN	17	25848409	missense	probably benign
IGL02116:Wdr90	APN	17	25859492	missense	probably benign	0.12
IGL02172:Wdr90	APN	17	25850434	missense	probably benign	0.22
IGL02716:Wdr90	APN	17	25857220	missense	probably damaging	0.96
IGL02961:Wdr90	APN	17	25848675	nonsense	probably null
IGL03229:Wdr90	APN	17	25845463	splice site	probably benign
IGL03367:Wdr90	APN	17	25847791	splice site	probably benign
IGL03098:Wdr90	UTSW	17	25859987	intron	probably benign
R0111:Wdr90	UTSW	17	25848444	splice site	probably benign
R0454:Wdr90	UTSW	17	25860049	missense	probably damaging	0.96
R0457:Wdr90	UTSW	17	25860485	missense	probably benign	0.00
R0488:Wdr90	UTSW	17	25848617	missense	probably damaging	1.00
R0622:Wdr90	UTSW	17	25855658	missense	probably damaging	1.00
R0671:Wdr90	UTSW	17	25846393	missense	probably benign	0.04
R0799:Wdr90	UTSW	17	25860130	missense	probably benign	0.38
R1177:Wdr90	UTSW	17	25846054	missense	possibly damaging	0.85
R1460:Wdr90	UTSW	17	25860448	missense	possibly damaging	0.82
R1468:Wdr90	UTSW	17	25854053	missense	probably damaging	1.00
R1468:Wdr90	UTSW	17	25854053	missense	probably damaging	1.00
R1544:Wdr90	UTSW	17	25849310	missense	possibly damaging	0.69
R2057:Wdr90	UTSW	17	25855199	missense	probably benign	0.05
R2087:Wdr90	UTSW	17	25846603	missense	probably damaging	1.00
R2159:Wdr90	UTSW	17	25851741	missense	probably benign
R2208:Wdr90	UTSW	17	25860388	missense	probably damaging	1.00
R2345:Wdr90	UTSW	17	25859162	missense	probably benign	0.05
R2391:Wdr90	UTSW	17	25851455	missense	probably damaging	1.00
R2394:Wdr90	UTSW	17	25851455	missense	probably damaging	1.00
R2520:Wdr90	UTSW	17	25855352	missense	probably damaging	1.00
R3798:Wdr90	UTSW	17	25850498	missense	probably benign	0.01
R3979:Wdr90	UTSW	17	25859278	missense	probably benign	0.00
R4111:Wdr90	UTSW	17	25849368	missense	possibly damaging	0.94
R4326:Wdr90	UTSW	17	25853731	missense	probably benign	0.25
R4459:Wdr90	UTSW	17	25861002	missense	possibly damaging	0.95
R4697:Wdr90	UTSW	17	25855363	missense	probably benign	0.03
R4735:Wdr90	UTSW	17	25859450	missense	probably benign
R4907:Wdr90	UTSW	17	25860650	intron	probably benign
R5070:Wdr90	UTSW	17	25846333	missense	probably damaging	1.00
R5230:Wdr90	UTSW	17	25855303	missense	probably benign	0.01
R5287:Wdr90	UTSW	17	25861467	utr 5 prime	probably benign
R5382:Wdr90	UTSW	17	25845598	missense	probably damaging	1.00
R5511:Wdr90	UTSW	17	25845021	unclassified	probably benign
R5545:Wdr90	UTSW	17	25845856	missense	probably damaging	1.00
R5707:Wdr90	UTSW	17	25857192	missense	probably benign	0.00
R5973:Wdr90	UTSW	17	25845133	missense	probably damaging	0.99
R5973:Wdr90	UTSW	17	25846407	missense	probably damaging	1.00
R6385:Wdr90	UTSW	17	25848530	missense	probably damaging	1.00
R6481:Wdr90	UTSW	17	25845911	missense	probably damaging	0.99
R7078:Wdr90	UTSW	17	25849649	missense	probably damaging	1.00
R7214:Wdr90	UTSW	17	25845393	missense	probably benign	0.00
R7288:Wdr90	UTSW	17	25846312	missense	probably benign	0.03
R7304:Wdr90	UTSW	17	25851506	missense	probably benign	0.10
R7309:Wdr90	UTSW	17	25860702	missense	probably benign	0.02
R7391:Wdr90	UTSW	17	25846528	missense	probably benign	0.08
R7622:Wdr90	UTSW	17	25854109	missense	probably benign	0.00
R7646:Wdr90	UTSW	17	25860130	missense	probably benign	0.38
R7772:Wdr90	UTSW	17	25861491	start gained	probably benign
R7779:Wdr90	UTSW	17	25846326	missense	probably damaging	1.00
R7780:Wdr90	UTSW	17	25846326	missense	probably damaging	1.00
R7781:Wdr90	UTSW	17	25846326	missense	probably damaging	1.00
R7782:Wdr90	UTSW	17	25846326	missense	probably damaging	1.00
R7812:Wdr90	UTSW	17	25852558	missense	probably damaging	1.00
R7870:Wdr90	UTSW	17	25860539	missense	probably damaging	0.96
R7911:Wdr90	UTSW	17	25850749	missense	probably benign	0.00
R8126:Wdr90	UTSW	17	25848977	missense	possibly damaging	0.48
R8260:Wdr90	UTSW	17	25845167	missense	probably damaging	1.00
R8315:Wdr90	UTSW	17	25845425	missense	probably benign	0.21
X0064:Wdr90	UTSW	17	25848563	missense	probably damaging	1.00
Z1176:Wdr90	UTSW	17	25860496	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCAGGAAAGATTACTACAAGCCCC -3'
(R):5'- TAATGGTCCGGTCAGTGAGC -3'

Sequencing Primer
(F):5'- CCCAAAGTGGCCTGACAGAG -3'
(R):5'- ACTTTCAAGACAGCTCTGGC -3'

Posted On

2016-07-06