Mutagenetix > Incidental Mutation

Incidental Mutation 'R0436:Wdr77'

38996

Institutional Source

Beutler Lab

Gene Symbol

Wdr77

Ensembl Gene

ENSMUSG00000000561

Gene Name

WD repeat domain 77

Synonyms

2610312E17Rik, 2610003I18Rik, p44/MEP50

MMRRC Submission

038637-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105866814-105877076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105867342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 63 (D63E)

Ref Sequence

ENSEMBL: ENSMUSP00000010278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010278] [ENSMUST00000118209] [ENSMUST00000128005] [ENSMUST00000130994] [ENSMUST00000133320]

AlphaFold

Q99J09

Predicted Effect

probably damaging
Transcript: ENSMUST00000010278
AA Change: D63E

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

SMART Domains

Protein: ENSMUSP00000010278
Gene: ENSMUSG00000000561
AA Change: D63E

Domain	Start	End	E-Value	Type
low complexity region	40	51	N/A	INTRINSIC
WD40	70	107	5.11e1	SMART
WD40	115	153	1.06e-3	SMART
WD40	156	196	4.51e-7	SMART
WD40	201	241	2.75e1	SMART
WD40	244	284	9.94e-1	SMART
WD40	286	326	1.99e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118209

SMART Domains

Protein: ENSMUSP00000113022
Gene: ENSMUSG00000000563

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_B	83	244	2.5e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127464

Predicted Effect

probably benign
Transcript: ENSMUST00000128005

SMART Domains

Protein: ENSMUSP00000122465
Gene: ENSMUSG00000000561

Domain	Start	End	E-Value	Type
WD40	13	51	1.06e-3	SMART
WD40	54	94	4.51e-7	SMART
WD40	99	139	2.75e1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000130994
AA Change: S60T

SMART Domains

Protein: ENSMUSP00000120517
Gene: ENSMUSG00000000561
AA Change: S60T

Domain	Start	End	E-Value	Type
PDB:4GQB\|B	1	52	8e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000133320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167642

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.4%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an androgen receptor coactivator that forms a complex with protein arginine methyltransferase 5, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins. The encoded protein may be involved in the early stages of prostate cancer, with most of the protein being nuclear-localized in benign cells but cytoplasmic in cancer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele die prior to E8.5 for unknown reasons. Heterozygotes develop multifocal hyperplasia in the dorsal prostate; however, no prostate tumors are detected up to 12 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,461,682 (GRCm39)		probably benign	Het
Abcb10	C	T	8: 124,697,740 (GRCm39)	G195S	probably benign	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Alx4	A	T	2: 93,498,702 (GRCm39)	K145*	probably null	Het
Arl8a	G	A	1: 135,074,718 (GRCm39)	M1I	probably null	Het
Btbd16	G	A	7: 130,387,783 (GRCm39)	S134N	probably benign	Het
Ccdc136	T	A	6: 29,414,933 (GRCm39)	L474Q	probably damaging	Het
Cebpz	A	G	17: 79,243,079 (GRCm39)	Y192H	probably benign	Het
Cep95	A	G	11: 106,709,511 (GRCm39)	Q109R	probably null	Het
Cfap54	G	T	10: 92,874,837 (GRCm39)	Q520K	possibly damaging	Het
Cog2	C	T	8: 125,275,253 (GRCm39)		probably benign	Het
Cul1	A	G	6: 47,500,707 (GRCm39)	N702S	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmxl2	T	C	9: 54,291,034 (GRCm39)	D2472G	probably damaging	Het
Drgx	T	C	14: 32,330,040 (GRCm39)	F81S	probably damaging	Het
Ect2	A	G	3: 27,204,244 (GRCm39)	F22L	probably benign	Het
Ehd4	A	T	2: 119,932,822 (GRCm39)	D201E	probably damaging	Het
Eif4ebp3	A	G	18: 36,797,354 (GRCm39)		probably null	Het
Exd2	T	C	12: 80,537,544 (GRCm39)		probably benign	Het
Gtf2a1	A	C	12: 91,535,047 (GRCm39)		probably null	Het
H2-DMb1	A	G	17: 34,378,630 (GRCm39)	Y256C	probably damaging	Het
Haus6	T	C	4: 86,504,044 (GRCm39)	R527G	probably benign	Het
Helb	C	T	10: 119,930,117 (GRCm39)		probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hk1	A	T	10: 62,135,054 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,295,624 (GRCm39)	K2611R	probably damaging	Het
Hrc	A	G	7: 44,985,557 (GRCm39)	H236R	possibly damaging	Het
Hunk	T	A	16: 90,261,042 (GRCm39)	Y178N	probably damaging	Het
Iftap	T	C	2: 101,440,864 (GRCm39)		probably benign	Het
Jakmip2	G	A	18: 43,691,234 (GRCm39)	Q616*	probably null	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Msantd4	C	T	9: 4,385,180 (GRCm39)	R302C	probably damaging	Het
Nae1	T	C	8: 105,249,868 (GRCm39)		probably benign	Het
Nek4	C	T	14: 30,692,429 (GRCm39)	L293F	probably damaging	Het
Odf2l	C	T	3: 144,831,877 (GRCm39)	T44I	possibly damaging	Het
Or52s19	A	G	7: 103,007,948 (GRCm39)	V151A	possibly damaging	Het
Otog	G	A	7: 45,915,360 (GRCm39)		probably benign	Het
Ppp1r21	C	T	17: 88,873,117 (GRCm39)	T425I	possibly damaging	Het
Prrc2b	A	G	2: 32,120,672 (GRCm39)	E2204G	probably damaging	Het
Prrc2c	A	C	1: 162,532,883 (GRCm39)		probably benign	Het
Ptgs2	T	C	1: 149,980,028 (GRCm39)		probably benign	Het
Slc12a8	T	A	16: 33,371,455 (GRCm39)	V197E	probably damaging	Het
Syne3	A	G	12: 104,913,183 (GRCm39)	W593R	possibly damaging	Het
Tmem63a	A	T	1: 180,800,298 (GRCm39)	T696S	probably benign	Het
Tnks2	A	G	19: 36,826,758 (GRCm39)	D165G	possibly damaging	Het
Trim43a	T	C	9: 88,470,240 (GRCm39)	W349R	probably damaging	Het
Unc45b	T	C	11: 82,820,393 (GRCm39)		probably benign	Het
Vmn1r4	T	A	6: 56,933,947 (GRCm39)	N150K	probably damaging	Het
Wdfy4	C	A	14: 32,805,769 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,463,164 (GRCm39)	T672A	unknown	Het
Zdhhc17	A	T	10: 110,817,851 (GRCm39)		probably null	Het

Other mutations in Wdr77

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Wdr77	APN	3	105,867,002 (GRCm39)	nonsense	probably null
R0368:Wdr77	UTSW	3	105,869,382 (GRCm39)	critical splice donor site	probably null
R1403:Wdr77	UTSW	3	105,874,573 (GRCm39)	missense	possibly damaging	0.76
R1403:Wdr77	UTSW	3	105,874,573 (GRCm39)	missense	possibly damaging	0.76
R1928:Wdr77	UTSW	3	105,874,618 (GRCm39)	missense	probably benign	0.00
R2422:Wdr77	UTSW	3	105,867,337 (GRCm39)	nonsense	probably null
R8749:Wdr77	UTSW	3	105,866,975 (GRCm39)	missense	probably damaging	1.00
R8858:Wdr77	UTSW	3	105,868,978 (GRCm39)	missense	probably damaging	1.00
R9484:Wdr77	UTSW	3	105,872,404 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCTCCACAAATCCGATCTCAGATTCAG -3'
(R):5'- GCCTAGCAAGGTGAGTCAATTCACAG -3'

Sequencing Primer
(F):5'- GCCTTCCATCTGACACCTTA -3'
(R):5'- gggacagccaagccaataag -3'

Posted On

2013-05-23