Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02723:Wdr55'

305042

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr55

Ensembl Gene

ENSMUSG00000042660

Gene Name

WD repeat domain 55

Synonyms

2410080P20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02723

Quality Score

Status

Chromosome

Chromosomal Location

36893275-36896761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36896435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 375 (E375G)

Ref Sequence

ENSEMBL: ENSMUSP00000039010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001416] [ENSMUST00000049323] [ENSMUST00000061522]

AlphaFold

Q9CX97

Predicted Effect

probably benign
Transcript: ENSMUST00000001416

SMART Domains

Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380

Domain	Start	End	E-Value	Type
WHEP-TRS	7	60	5.37e-11	SMART
Pfam:tRNA-synt_His	61	389	1.9e-41	PFAM
Pfam:HGTP_anticodon2	404	507	3.3e-12	PFAM
Pfam:HGTP_anticodon	410	501	4.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049323
AA Change: E375G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039010
Gene: ENSMUSG00000042660
AA Change: E375G

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

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Capn9	A	T	8: 125,335,922 (GRCm39)		probably benign	Het
Cchcr1	A	C	17: 35,841,699 (GRCm39)	K761Q	probably benign	Het
Cfap20dc	T	C	14: 8,516,507 (GRCm38)	N347S	probably benign	Het
Csk	G	T	9: 57,538,672 (GRCm39)		probably benign	Het
Cyp2j7	T	C	4: 96,118,366 (GRCm39)	K76E	probably benign	Het
Dpep1	G	A	8: 123,920,888 (GRCm39)	A23T	possibly damaging	Het
Dpp8	T	A	9: 64,949,549 (GRCm39)	M98K	possibly damaging	Het
Dspp	C	A	5: 104,323,041 (GRCm39)	N61K	probably benign	Het
Eno2	T	C	6: 124,738,626 (GRCm39)	Y364C	probably damaging	Het
Gfra1	A	G	19: 58,441,683 (GRCm39)	S83P	probably benign	Het
Gramd1b	T	C	9: 40,218,127 (GRCm39)	E563G	probably damaging	Het
Kcns2	G	T	15: 34,838,961 (GRCm39)	W108L	probably damaging	Het
Mroh4	T	C	15: 74,480,086 (GRCm39)		probably benign	Het
Obscn	A	T	11: 59,015,446 (GRCm39)	S1009T	probably benign	Het
Or2y11	A	G	11: 49,443,506 (GRCm39)	R311G	probably benign	Het
Or5b119	A	G	19: 13,456,699 (GRCm39)	Y288H	probably damaging	Het
Or7g32	T	C	9: 19,388,805 (GRCm39)	H244R	probably damaging	Het
Or8b41	A	G	9: 38,054,707 (GRCm39)	K92R	probably benign	Het
Plcb2	G	A	2: 118,547,500 (GRCm39)		probably benign	Het
Rpl13a-ps1	T	A	19: 50,019,111 (GRCm39)	I22F	possibly damaging	Het
Skil	A	G	3: 31,171,673 (GRCm39)	E599G	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Spata31	T	C	13: 65,068,463 (GRCm39)	S204P	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tenm3	A	T	8: 48,729,938 (GRCm39)	V1356E	probably benign	Het
Trpc3	T	A	3: 36,704,377 (GRCm39)	I527F	probably benign	Het
Vmn2r69	A	G	7: 85,059,416 (GRCm39)	W498R	probably damaging	Het
Vwde	T	A	6: 13,205,759 (GRCm39)	I263L	probably damaging	Het
Vwf	G	T	6: 125,619,893 (GRCm39)	V1524L	possibly damaging	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
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
R1420:Wdr55	UTSW	18	36,893,392 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16