Mutagenetix > Incidental Mutation

Incidental Mutation 'R1420:Wdr55'

160080

Institutional Source

Beutler Lab

Gene Symbol

Wdr55

Ensembl Gene

ENSMUSG00000042660

Gene Name

WD repeat domain 55

Synonyms

2410080P20Rik

MMRRC Submission

039476-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36893275-36896761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36893392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 18 (E18G)

Ref Sequence

ENSEMBL: ENSMUSP00000039010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007042] [ENSMUST00000049323] [ENSMUST00000061522]

AlphaFold

Q9CX97

Predicted Effect

probably benign
Transcript: ENSMUST00000007042

SMART Domains

Protein: ENSMUSP00000007042
Gene: ENSMUSG00000024474

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:RED_N	76	302	1.6e-105	PFAM
low complexity region	334	380	N/A	INTRINSIC
Pfam:RED_C	445	554	1.1e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049323
AA Change: E18G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039010
Gene: ENSMUSG00000042660
AA Change: E18G

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
WD40	31	67	4.6e0	SMART
WD40	74	113	1.12e-2	SMART
WD40	116	155	2.4e-2	SMART
WD40	158	197	2.76e-2	SMART
WD40	202	239	1.72e0	SMART
WD40	284	324	2.01e-4	SMART
low complexity region	380	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061522

SMART Domains

Protein: ENSMUSP00000054412
Gene: ENSMUSG00000044595

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
RRM	59	132	2.49e-10	SMART
RRM	139	214	3.01e-1	SMART
Pfam:DND1_DSRM	253	333	1.1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224284

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	A	G	10: 83,331,799 (GRCm39)	Y669H	probably damaging	Het
Amotl2	A	T	9: 102,601,982 (GRCm39)	M409L	possibly damaging	Het
Ankrd35	A	G	3: 96,592,054 (GRCm39)	E780G	probably benign	Het
Brwd1	T	C	16: 95,837,234 (GRCm39)	Y866C	probably damaging	Het
Cul4b	G	C	X: 37,653,918 (GRCm39)		probably null	Het
Daw1	A	T	1: 83,137,548 (GRCm39)	Y10F	possibly damaging	Het
Dgki	A	T	6: 37,027,204 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,551,202 (GRCm39)	V3039E	probably damaging	Het
Ercc4	C	T	16: 12,948,073 (GRCm39)	T340I	probably benign	Het
Fam83b	T	C	9: 76,399,894 (GRCm39)	N403S	possibly damaging	Het
Fbh1	A	G	2: 11,772,493 (GRCm39)	F63L	probably benign	Het
Foxm1	G	A	6: 128,349,884 (GRCm39)	R395H	possibly damaging	Het
Gtpbp4	C	T	13: 9,023,298 (GRCm39)	A589T	probably benign	Het
Ifna7	C	A	4: 88,734,906 (GRCm39)	H148N	probably damaging	Het
Il23r	T	C	6: 67,463,181 (GRCm39)	Y104C	probably damaging	Het
Il31ra	A	T	13: 112,668,286 (GRCm39)	W347R	probably damaging	Het
Ints7	T	G	1: 191,345,169 (GRCm39)	F620V	possibly damaging	Het
Iqcd	T	C	5: 120,738,860 (GRCm39)	L226P	probably damaging	Het
Jak3	G	T	8: 72,134,182 (GRCm39)	R428L	possibly damaging	Het
Kif28	C	A	1: 179,529,962 (GRCm39)	C733F	probably damaging	Het
Klkb1	C	A	8: 45,729,183 (GRCm39)	C347F	probably damaging	Het
Ksr2	A	G	5: 117,552,904 (GRCm39)	E4G	probably benign	Het
Lama1	T	C	17: 68,097,942 (GRCm39)	L1774P	probably damaging	Het
Lrriq3	A	G	3: 154,893,349 (GRCm39)	E350G	probably benign	Het
Nav3	G	A	10: 109,659,115 (GRCm39)	A834V	probably benign	Het
Ncoa6	G	A	2: 155,263,073 (GRCm39)	Q454*	probably null	Het
Nfatc2	C	A	2: 168,346,585 (GRCm39)	M836I	probably benign	Het
Nphp3	G	T	9: 103,913,092 (GRCm39)		probably null	Het
Olfml2b	C	T	1: 170,496,596 (GRCm39)	T409M	probably benign	Het
Oprk1	A	G	1: 5,672,544 (GRCm39)	K227R	probably damaging	Het
Or8g35	A	T	9: 39,381,289 (GRCm39)	H244Q	probably damaging	Het
Pate1	A	T	9: 35,596,505 (GRCm39)	W87R	probably damaging	Het
Pcnx4	T	C	12: 72,602,760 (GRCm39)	Y341H	probably benign	Het
Pde4c	T	A	8: 71,201,066 (GRCm39)	H421Q	probably damaging	Het
Pglyrp4	T	C	3: 90,636,021 (GRCm39)	V82A	probably damaging	Het
Pnmt	G	T	11: 98,278,502 (GRCm39)	R156L	probably benign	Het
Prdm9	C	A	17: 15,764,638 (GRCm39)	C714F	probably damaging	Het
Pwp1	T	C	10: 85,712,402 (GRCm39)	V80A	probably damaging	Het
Pxdn	T	C	12: 30,052,067 (GRCm39)	L568P	probably damaging	Het
Rasgrp4	C	A	7: 28,839,770 (GRCm39)	Q161K	probably damaging	Het
Rnf138	A	G	18: 21,159,159 (GRCm39)	E193G	probably damaging	Het
Slc16a6	A	G	11: 109,345,772 (GRCm39)	V413A	probably damaging	Het
Slc7a15	T	C	12: 8,584,442 (GRCm39)	T363A	probably benign	Het
Sufu	T	C	19: 46,385,623 (GRCm39)	S28P	probably benign	Het
Tex19.1	T	C	11: 121,037,872 (GRCm39)	S77P	probably damaging	Het
Tmc7	A	T	7: 118,165,440 (GRCm39)	Y91*	probably null	Het
Ttbk2	C	G	2: 120,576,393 (GRCm39)	R792S	probably benign	Het
Tyw1	T	C	5: 130,303,586 (GRCm39)		probably null	Het
U2surp	A	G	9: 95,344,856 (GRCm39)	S907P	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vps50	T	A	6: 3,588,007 (GRCm39)	L660*	probably null	Het
Wipi1	A	G	11: 109,469,198 (GRCm39)	V331A	probably benign	Het

Other mutations in Wdr55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Wdr55	APN	18	36,895,132 (GRCm39)	critical splice donor site	probably null
IGL02720:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
IGL02723:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
IGL02726:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
IGL02728:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
IGL02729:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
IGL02731:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
R1952:Wdr55	UTSW	18	36,893,437 (GRCm39)	missense	probably damaging	1.00
R2143:Wdr55	UTSW	18	36,895,419 (GRCm39)	missense	possibly damaging	0.95
R2144:Wdr55	UTSW	18	36,895,419 (GRCm39)	missense	possibly damaging	0.95
R4323:Wdr55	UTSW	18	36,896,153 (GRCm39)	missense	probably benign	0.00
R4497:Wdr55	UTSW	18	36,893,448 (GRCm39)	missense	possibly damaging	0.85
R4937:Wdr55	UTSW	18	36,895,451 (GRCm39)	missense	probably benign	0.00
R5662:Wdr55	UTSW	18	36,893,448 (GRCm39)	missense	possibly damaging	0.85
R6315:Wdr55	UTSW	18	36,895,122 (GRCm39)	missense	probably damaging	1.00
R6499:Wdr55	UTSW	18	36,895,231 (GRCm39)	missense	probably benign	0.00
R6679:Wdr55	UTSW	18	36,896,177 (GRCm39)	missense	probably damaging	1.00
R7038:Wdr55	UTSW	18	36,893,473 (GRCm39)	missense	probably damaging	1.00
R7151:Wdr55	UTSW	18	36,895,989 (GRCm39)	missense	possibly damaging	0.48
R7687:Wdr55	UTSW	18	36,895,076 (GRCm39)	missense	probably damaging	1.00
R7808:Wdr55	UTSW	18	36,893,469 (GRCm39)	missense	probably benign	0.04
R9365:Wdr55	UTSW	18	36,893,354 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCGCTCGCTTAATTCGCATCAG -3'
(R):5'- AGTCTCATAAGATGCCTTCCCGCC -3'

Sequencing Primer
(F):5'- TCTGAAATCCTCCCAGTGCA -3'
(R):5'- TCCAGAGCAGTTTTAACACACTTC -3'

Posted On

2014-03-14