Mutagenetix > Incidental Mutation

Incidental Mutation 'R2208:Wdr90'

236800

Institutional Source

Beutler Lab

Gene Symbol

Wdr90

Ensembl Gene

ENSMUSG00000073434

Gene Name

WD repeat domain 90

Synonyms

3230401M21Rik

MMRRC Submission

040210-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25844771-25861501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25860388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 257 (D257E)

Ref Sequence

ENSEMBL: ENSMUSP00000078426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026828] [ENSMUST00000079461] [ENSMUST00000176923]

AlphaFold

Q6ZPG2

Predicted Effect

probably benign
Transcript: ENSMUST00000026828

SMART Domains

Protein: ENSMUSP00000026828
Gene: ENSMUSG00000025732

Domain	Start	End	E-Value	Type
Pfam:FAM195	59	158	8.3e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079461
AA Change: D257E

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

SMART Domains

Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
AA Change: D257E

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: ENSMUST00000176575

Predicted Effect

probably benign
Transcript: ENSMUST00000176678

Predicted Effect

probably damaging
Transcript: ENSMUST00000176923
AA Change: D239E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434
AA Change: D239E

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: ENSMUST00000177031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,194,403	N883K	probably benign	Het
Ahnak	T	C	19: 9,017,732	V5460A	probably benign	Het
Bco2	A	G	9: 50,533,455	V517A	probably damaging	Het
Brca2	T	A	5: 150,532,344	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,107,960		probably null	Het
Ccdc39	A	G	3: 33,841,178	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,336,029	H198L	probably damaging	Het
Cdc73	T	A	1: 143,609,382	E516V	probably damaging	Het
Cep170b	T	A	12: 112,738,985	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,678,099	L56P	probably damaging	Het
Clec4d	T	A	6: 123,265,355	V22D	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,556,936	L141P	probably damaging	Het
Cyp4x1	G	T	4: 115,126,594	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Enpp7	T	C	11: 118,988,762		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fitm2	T	A	2: 163,472,684		probably benign	Het
Gm14139	T	A	2: 150,193,145	V462E	probably benign	Het
Gng10	T	A	4: 59,035,314	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,023,453	V268I	probably benign	Het
Hmcn2	G	A	2: 31,380,297	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Krt36	C	T	11: 100,102,939	V358M	probably damaging	Het
Lmod3	T	C	6: 97,247,877	I328V	probably benign	Het
Lrp8	T	C	4: 107,855,790	V580A	probably damaging	Het
Masp2	T	C	4: 148,614,415	I651T	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Msi2	A	T	11: 88,590,108	S118T	probably damaging	Het
Muc19	T	C	15: 91,871,549		noncoding transcript	Het
Nabp1	G	A	1: 51,477,614	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Nup88	T	C	11: 70,965,719	D196G	probably damaging	Het
Olfr747	T	C	14: 50,681,563	I24V	probably benign	Het
Pax1	T	A	2: 147,365,802	I198N	probably damaging	Het
Pde3a	A	G	6: 141,250,347	E253G	probably damaging	Het
Phldb1	C	T	9: 44,696,131	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,999,639	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,799,264		probably null	Het
Ptprf	A	T	4: 118,269,172		probably benign	Het
Rfx7	A	G	9: 72,617,964	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,232	T691A	probably benign	Het
Rundc3a	A	T	11: 102,402,088	S436C	probably damaging	Het
Sntb1	T	C	15: 55,906,318	T92A	possibly damaging	Het
Tarsl2	T	C	7: 65,682,848	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,150,792		probably null	Het
Tep1	T	C	14: 50,866,864	Q191R	probably benign	Het
Tmc2	C	A	2: 130,214,563		probably null	Het
Tns1	A	C	1: 74,079,240	I77S	probably damaging	Het
Trpd52l3	T	C	19: 30,004,246	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,297,443	N38K	possibly damaging	Het
Zbtb9	T	C	17: 26,974,124	C168R	possibly damaging	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
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
R5268:Wdr90	UTSW	17	25850845	missense	probably damaging	1.00
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
R8919:Wdr90	UTSW	17	25857172	missense
R8938:Wdr90	UTSW	17	25857172	missense
R8940:Wdr90	UTSW	17	25857172	missense
R9038:Wdr90	UTSW	17	25857226	missense
R9079:Wdr90	UTSW	17	25857429	missense
R9401:Wdr90	UTSW	17	25845776	small insertion	probably benign
R9471:Wdr90	UTSW	17	25861041	missense	possibly damaging	0.72
R9642:Wdr90	UTSW	17	25853720	critical splice donor site	probably null
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'- ATTACCAAGTATCTGCCACTCC -3'
(R):5'- CAACTGGGCATGTGCTTCTG -3'

Sequencing Primer
(F):5'- GTATCTGCCACTCCACCAAC -3'
(R):5'- TGGCCCTGAGGATAGCTAG -3'

Posted On

2014-10-02