Mutagenetix > Incidental Mutation

Incidental Mutation 'R5545:Wdr90'

436203

Institutional Source

Beutler Lab

Gene Symbol

Wdr90

Ensembl Gene

ENSMUSG00000073434

Gene Name

WD repeat domain 90

Synonyms

3230401M21Rik

MMRRC Submission

043103-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R5545 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26063745-26080475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26064830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1744 (R1744H)

Ref Sequence

ENSEMBL: ENSMUSP00000078426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043897] [ENSMUST00000079461] [ENSMUST00000176923] [ENSMUST00000176709]

AlphaFold

Q6ZPG2

Predicted Effect

probably benign
Transcript: ENSMUST00000043897

SMART Domains

Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733

Domain	Start	End	E-Value	Type
Pfam:Roc	6	122	4.1e-11	PFAM
Pfam:Ras	6	168	2.3e-18	PFAM
EFh	188	216	1.27e1	SMART
Pfam:EF_assoc_2	219	305	2.2e-35	PFAM
EFh	308	336	1.23e-1	SMART
Pfam:EF_assoc_1	341	412	1.8e-25	PFAM
Blast:AAA	416	547	7e-18	BLAST
SCOP:d1mh1__	422	532	4e-8	SMART
transmembrane domain	595	617	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000079461
AA Change: R1744H

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

SMART Domains

Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
AA Change: R1744H

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: ENSMUST00000175790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176983

Predicted Effect

probably damaging
Transcript: ENSMUST00000176923
AA Change: R1726H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434
AA Change: R1726H

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: ENSMUST00000177170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176602

Predicted Effect

probably benign
Transcript: ENSMUST00000176709

SMART Domains

Protein: ENSMUSP00000135436
Gene: ENSMUSG00000025733

Domain	Start	End	E-Value	Type
Pfam:Arf	1	121	1.6e-6	PFAM
Pfam:MMR_HSR1	6	118	1.4e-6	PFAM
Pfam:Miro	6	120	7.8e-20	PFAM
Pfam:Ras	6	121	7.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176591

Predicted Effect

probably benign
Transcript: ENSMUST00000176751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177470

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	C	3: 145,644,853 (GRCm39)		probably null	Het
Acot5	G	A	12: 84,116,380 (GRCm39)	R47Q	possibly damaging	Het
Akr1c19	A	T	13: 4,292,594 (GRCm39)	Y205F	probably benign	Het
Cdh6	T	C	15: 13,041,235 (GRCm39)	Y564C	probably damaging	Het
Cngb1	A	G	8: 95,978,801 (GRCm39)	S551P		Het
Cyp20a1	T	C	1: 60,415,241 (GRCm39)	I289T	possibly damaging	Het
Herc6	A	T	6: 57,634,992 (GRCm39)		probably null	Het
Ifnar2	G	A	16: 91,181,913 (GRCm39)		probably null	Het
Kcnd2	A	G	6: 21,217,018 (GRCm39)	T241A	probably damaging	Het
Nfatc2ip	T	A	7: 125,989,642 (GRCm39)	E247D	possibly damaging	Het
Or2k2	T	G	4: 58,785,585 (GRCm39)	I46L	probably benign	Het
Or2o1	G	A	11: 49,051,453 (GRCm39)	C204Y	probably damaging	Het
Pate10	A	G	9: 35,652,940 (GRCm39)	I61V	probably benign	Het
Plekhg2	T	C	7: 28,061,886 (GRCm39)	E638G	probably damaging	Het
Plin1	T	C	7: 79,376,257 (GRCm39)	T160A	probably benign	Het
Prox1	T	A	1: 189,879,339 (GRCm39)	N613I	probably damaging	Het
Ptpn13	A	G	5: 103,709,830 (GRCm39)	S1498G	probably damaging	Het
Ralbp1	C	T	17: 66,157,099 (GRCm39)	R598Q	possibly damaging	Het
Robo2	A	C	16: 73,758,635 (GRCm39)	V712G	probably damaging	Het
Rsl1d1	A	G	16: 11,017,514 (GRCm39)	F151L	probably damaging	Het
Scrn3	T	A	2: 73,166,125 (GRCm39)	I386N	possibly damaging	Het
Sorl1	T	A	9: 41,902,921 (GRCm39)	Y1591F	probably benign	Het
Tbr1	T	G	2: 61,637,720 (GRCm39)	V93G	possibly damaging	Het
Tmem229b	A	G	12: 79,011,583 (GRCm39)	I116T	probably damaging	Het
Ttn	T	C	2: 76,594,720 (GRCm39)	Q12115R	possibly damaging	Het
Ube3a	C	T	7: 58,921,772 (GRCm39)	T48M	probably damaging	Het
Vnn3	A	G	10: 23,742,992 (GRCm39)	I401V	probably benign	Het
Zc3h7a	T	C	16: 10,966,315 (GRCm39)	D604G	possibly damaging	Het

Other mutations in Wdr90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Wdr90	APN	17	26,068,338 (GRCm39)	missense	probably damaging	1.00
IGL01118:Wdr90	APN	17	26,073,661 (GRCm39)	missense	probably damaging	1.00
IGL01964:Wdr90	APN	17	26,067,383 (GRCm39)	missense	probably benign
IGL02116:Wdr90	APN	17	26,078,466 (GRCm39)	missense	probably benign	0.12
IGL02172:Wdr90	APN	17	26,069,408 (GRCm39)	missense	probably benign	0.22
IGL02716:Wdr90	APN	17	26,076,194 (GRCm39)	missense	probably damaging	0.96
IGL02961:Wdr90	APN	17	26,067,649 (GRCm39)	nonsense	probably null
IGL03229:Wdr90	APN	17	26,064,437 (GRCm39)	splice site	probably benign
IGL03367:Wdr90	APN	17	26,066,765 (GRCm39)	splice site	probably benign
IGL03098:Wdr90	UTSW	17	26,078,961 (GRCm39)	intron	probably benign
R0111:Wdr90	UTSW	17	26,067,418 (GRCm39)	splice site	probably benign
R0454:Wdr90	UTSW	17	26,079,023 (GRCm39)	missense	probably damaging	0.96
R0457:Wdr90	UTSW	17	26,079,459 (GRCm39)	missense	probably benign	0.00
R0488:Wdr90	UTSW	17	26,067,591 (GRCm39)	missense	probably damaging	1.00
R0622:Wdr90	UTSW	17	26,074,632 (GRCm39)	missense	probably damaging	1.00
R0671:Wdr90	UTSW	17	26,065,367 (GRCm39)	missense	probably benign	0.04
R0799:Wdr90	UTSW	17	26,079,104 (GRCm39)	missense	probably benign	0.38
R1177:Wdr90	UTSW	17	26,065,028 (GRCm39)	missense	possibly damaging	0.85
R1460:Wdr90	UTSW	17	26,079,422 (GRCm39)	missense	possibly damaging	0.82
R1468:Wdr90	UTSW	17	26,073,027 (GRCm39)	missense	probably damaging	1.00
R1468:Wdr90	UTSW	17	26,073,027 (GRCm39)	missense	probably damaging	1.00
R1544:Wdr90	UTSW	17	26,068,284 (GRCm39)	missense	possibly damaging	0.69
R2057:Wdr90	UTSW	17	26,074,173 (GRCm39)	missense	probably benign	0.05
R2087:Wdr90	UTSW	17	26,065,577 (GRCm39)	missense	probably damaging	1.00
R2159:Wdr90	UTSW	17	26,070,715 (GRCm39)	missense	probably benign
R2208:Wdr90	UTSW	17	26,079,362 (GRCm39)	missense	probably damaging	1.00
R2345:Wdr90	UTSW	17	26,078,136 (GRCm39)	missense	probably benign	0.05
R2391:Wdr90	UTSW	17	26,070,429 (GRCm39)	missense	probably damaging	1.00
R2394:Wdr90	UTSW	17	26,070,429 (GRCm39)	missense	probably damaging	1.00
R2520:Wdr90	UTSW	17	26,074,326 (GRCm39)	missense	probably damaging	1.00
R3798:Wdr90	UTSW	17	26,069,472 (GRCm39)	missense	probably benign	0.01
R3979:Wdr90	UTSW	17	26,078,252 (GRCm39)	missense	probably benign	0.00
R4111:Wdr90	UTSW	17	26,068,342 (GRCm39)	missense	possibly damaging	0.94
R4326:Wdr90	UTSW	17	26,072,705 (GRCm39)	missense	probably benign	0.25
R4459:Wdr90	UTSW	17	26,079,976 (GRCm39)	missense	possibly damaging	0.95
R4697:Wdr90	UTSW	17	26,074,337 (GRCm39)	missense	probably benign	0.03
R4735:Wdr90	UTSW	17	26,078,424 (GRCm39)	missense	probably benign
R4907:Wdr90	UTSW	17	26,079,624 (GRCm39)	intron	probably benign
R5070:Wdr90	UTSW	17	26,065,307 (GRCm39)	missense	probably damaging	1.00
R5230:Wdr90	UTSW	17	26,074,277 (GRCm39)	missense	probably benign	0.01
R5268:Wdr90	UTSW	17	26,069,819 (GRCm39)	missense	probably damaging	1.00
R5287:Wdr90	UTSW	17	26,080,441 (GRCm39)	utr 5 prime	probably benign
R5382:Wdr90	UTSW	17	26,064,572 (GRCm39)	missense	probably damaging	1.00
R5511:Wdr90	UTSW	17	26,063,995 (GRCm39)	unclassified	probably benign
R5707:Wdr90	UTSW	17	26,076,166 (GRCm39)	missense	probably benign	0.00
R5973:Wdr90	UTSW	17	26,065,381 (GRCm39)	missense	probably damaging	1.00
R5973:Wdr90	UTSW	17	26,064,107 (GRCm39)	missense	probably damaging	0.99
R6385:Wdr90	UTSW	17	26,067,504 (GRCm39)	missense	probably damaging	1.00
R6481:Wdr90	UTSW	17	26,064,885 (GRCm39)	missense	probably damaging	0.99
R7078:Wdr90	UTSW	17	26,068,623 (GRCm39)	missense	probably damaging	1.00
R7214:Wdr90	UTSW	17	26,064,367 (GRCm39)	missense	probably benign	0.00
R7288:Wdr90	UTSW	17	26,065,286 (GRCm39)	missense	probably benign	0.03
R7304:Wdr90	UTSW	17	26,070,480 (GRCm39)	missense	probably benign	0.10
R7309:Wdr90	UTSW	17	26,079,676 (GRCm39)	missense	probably benign	0.02
R7391:Wdr90	UTSW	17	26,065,502 (GRCm39)	missense	probably benign	0.08
R7622:Wdr90	UTSW	17	26,073,083 (GRCm39)	missense	probably benign	0.00
R7646:Wdr90	UTSW	17	26,079,104 (GRCm39)	missense	probably benign	0.38
R7772:Wdr90	UTSW	17	26,080,465 (GRCm39)	start gained	probably benign
R7779:Wdr90	UTSW	17	26,065,300 (GRCm39)	missense	probably damaging	1.00
R7780:Wdr90	UTSW	17	26,065,300 (GRCm39)	missense	probably damaging	1.00
R7781:Wdr90	UTSW	17	26,065,300 (GRCm39)	missense	probably damaging	1.00
R7782:Wdr90	UTSW	17	26,065,300 (GRCm39)	missense	probably damaging	1.00
R7812:Wdr90	UTSW	17	26,071,532 (GRCm39)	missense	probably damaging	1.00
R7870:Wdr90	UTSW	17	26,079,513 (GRCm39)	missense	probably damaging	0.96
R7911:Wdr90	UTSW	17	26,069,723 (GRCm39)	missense	probably benign	0.00
R8126:Wdr90	UTSW	17	26,067,951 (GRCm39)	missense	possibly damaging	0.48
R8260:Wdr90	UTSW	17	26,064,141 (GRCm39)	missense	probably damaging	1.00
R8315:Wdr90	UTSW	17	26,064,399 (GRCm39)	missense	probably benign	0.21
R8919:Wdr90	UTSW	17	26,076,146 (GRCm39)	missense
R8938:Wdr90	UTSW	17	26,076,146 (GRCm39)	missense
R8940:Wdr90	UTSW	17	26,076,146 (GRCm39)	missense
R9038:Wdr90	UTSW	17	26,076,200 (GRCm39)	missense
R9079:Wdr90	UTSW	17	26,076,403 (GRCm39)	missense
R9401:Wdr90	UTSW	17	26,064,750 (GRCm39)	small insertion	probably benign
R9471:Wdr90	UTSW	17	26,080,015 (GRCm39)	missense	possibly damaging	0.72
R9642:Wdr90	UTSW	17	26,072,694 (GRCm39)	critical splice donor site	probably null
X0064:Wdr90	UTSW	17	26,067,537 (GRCm39)	missense	probably damaging	1.00
Z1176:Wdr90	UTSW	17	26,079,470 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGTATCGCCTTATCCCAAG -3'
(R):5'- GGGGTGCTCCAATTTCTGCTATC -3'

Sequencing Primer
(F):5'- CTTATCCCAAGGGCAGAAGGC -3'
(R):5'- GCTATCCAGAGCACGAGC -3'

Posted On

2016-10-24