Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02726:Wdr55'

305211

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 #

IGL02726

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	T	2: 128,501,705 (GRCm39)	M779K	probably benign	Het
Art1	G	A	7: 101,759,955 (GRCm39)	V85M	probably damaging	Het
Atad2b	G	T	12: 5,024,003 (GRCm39)	E43*	probably null	Het
Clec4a4	A	T	6: 122,967,338 (GRCm39)	I5F	probably damaging	Het
Cr1l	A	T	1: 194,812,188 (GRCm39)	I45N	probably damaging	Het
Dmbt1	T	A	7: 130,676,140 (GRCm39)		probably benign	Het
Dnajb3	A	T	1: 88,133,372 (GRCm39)	V10E	probably damaging	Het
Dnajc22	A	T	15: 98,998,881 (GRCm39)	H22L	probably damaging	Het
Dnal4	A	G	15: 79,647,745 (GRCm39)	V40A	probably damaging	Het
Dsg1b	G	A	18: 20,532,542 (GRCm39)	V529I	probably benign	Het
Elp1	T	A	4: 56,767,878 (GRCm39)		probably null	Het
Fam131c	T	A	4: 141,110,113 (GRCm39)	D170E	probably benign	Het
Got1	G	A	19: 43,488,851 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,349,270 (GRCm39)	V2043E	probably benign	Het
Hmcn1	A	T	1: 150,532,445 (GRCm39)	Y3147*	probably null	Het
Ifi44	T	C	3: 151,455,233 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,209,242 (GRCm39)	D129E	probably damaging	Het
Ino80	A	T	2: 119,272,964 (GRCm39)	I504N	probably damaging	Het
Itpr2	A	G	6: 146,277,419 (GRCm39)	I655T	probably benign	Het
Kcnk4	A	G	19: 6,904,457 (GRCm39)		probably null	Het
Mrgprb2	T	A	7: 48,202,618 (GRCm39)	R36W	probably damaging	Het
Mslnl	T	C	17: 25,963,077 (GRCm39)		probably null	Het
Or10ak14	T	A	4: 118,610,961 (GRCm39)	Y260F	probably benign	Het
Or1e33	T	C	11: 73,738,691 (GRCm39)	S87G	probably benign	Het
Or2ag1b	A	C	7: 106,288,577 (GRCm39)	Y120*	probably null	Het
Or8k16	G	T	2: 85,520,554 (GRCm39)	L260F	possibly damaging	Het
Pcnx4	G	T	12: 72,620,986 (GRCm39)	M935I	probably benign	Het
Pdgfra	C	T	5: 75,355,618 (GRCm39)	Q1043*	probably null	Het
Pf4	T	C	5: 90,920,523 (GRCm39)	V28A	probably benign	Het
Piezo1	A	G	8: 123,213,894 (GRCm39)	L1689P	probably damaging	Het
Ppa2	A	G	3: 133,076,222 (GRCm39)	S284G	possibly damaging	Het
Pramel22	G	T	4: 143,381,955 (GRCm39)	P247H	probably damaging	Het
Psd2	T	C	18: 36,120,355 (GRCm39)		probably null	Het
Rbm25	G	T	12: 83,719,626 (GRCm39)	G549W	probably damaging	Het
Ryr2	T	C	13: 11,753,206 (GRCm39)	D1705G	probably damaging	Het
Shf	A	T	2: 122,189,969 (GRCm39)	D96E	probably damaging	Het
Slc1a1	G	A	19: 28,889,169 (GRCm39)	V481M	probably benign	Het
Slc4a9	T	C	18: 36,672,670 (GRCm39)	V807A	probably benign	Het
Syne2	T	A	12: 76,062,356 (GRCm39)	I4226N	probably damaging	Het
Tex56	A	G	13: 35,136,943 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,573,576 (GRCm39)	V254E	possibly damaging	Het
Ubr2	A	C	17: 47,283,847 (GRCm39)	Y601D	probably damaging	Het
Ubr5	A	C	15: 38,000,806 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,854 (GRCm39)	I50K	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
IGL02723: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