Mutagenetix > Incidental Mutations

Incidental Mutation 'R6282:Wdr20'

527947

Institutional Source

Beutler Lab

Gene Symbol

Wdr20

Ensembl Gene

ENSMUSG00000037957

Gene Name

WD repeat domain 20

Synonyms

Wdr20a, 2310040A13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R6282 (G1)

Quality Score

193.009

Status

Validated

Chromosome

Chromosomal Location

110737944-110804238 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 110797009 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095410] [ENSMUST00000192870] [ENSMUST00000193053] [ENSMUST00000195886]

Predicted Effect

probably benign
Transcript: ENSMUST00000095410

SMART Domains

Protein: ENSMUSP00000093059
Gene: ENSMUSG00000037957

Domain	Start	End	E-Value	Type
WD40	140	178	2.66e0	SMART
WD40	209	248	4.95e-4	SMART
WD40	251	290	1.47e-6	SMART
WD40	293	382	8.59e-1	SMART
Blast:WD40	464	559	2e-36	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000192870

SMART Domains

Protein: ENSMUSP00000141887
Gene: ENSMUSG00000037957

Domain	Start	End	E-Value	Type
Blast:WD40	89	131	1e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000193053

SMART Domains

Protein: ENSMUSP00000141678
Gene: ENSMUSG00000037957

Domain	Start	End	E-Value	Type
Blast:WD40	89	131	2e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194118

Predicted Effect

probably benign
Transcript: ENSMUST00000195886

SMART Domains

Protein: ENSMUSP00000142157
Gene: ENSMUSG00000037957

Domain	Start	End	E-Value	Type
Blast:WD40	29	71	1e-16	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,800,769	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,208,824	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,434,004	I708N	probably benign	Het
Axin1	C	G	17: 26,143,037	D118E	probably damaging	Het
Bace2	A	T	16: 97,415,097	I297F	probably damaging	Het
C87499	T	C	4: 88,630,054	E38G	probably damaging	Het
Ccdc30	T	A	4: 119,324,017	D649V	probably damaging	Het
Cd180	G	A	13: 102,693,757	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,120,020	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,183,402	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,503,601	H2470R	probably damaging	Het
Drap1	G	A	19: 5,424,436		probably null	Het
Fam196b	A	G	11: 34,402,819	D287G	possibly damaging	Het
Fbxo5	T	A	10: 5,801,216	K257M	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm12790	A	G	4: 101,967,516	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,260,413	N136S	probably benign	Het
Il10ra	C	A	9: 45,260,405	C255F	probably damaging	Het
Itgam	A	T	7: 128,084,942	T340S	probably benign	Het
Ktn1	A	T	14: 47,663,971	N62I	probably damaging	Het
Ldb2	A	G	5: 44,532,665	L204P	probably damaging	Het
Map2k4	T	C	11: 65,707,016	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,297,971	D287E	probably benign	Het
Mier2	A	G	10: 79,544,742	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,149,163	M609T	probably benign	Het
Myo1d	A	T	11: 80,557,512	V929D	probably damaging	Het
Naprt	A	T	15: 75,891,979	M364K	probably benign	Het
Nod2	T	A	8: 88,670,460	C833S	probably benign	Het
Nrip3	C	T	7: 109,763,479		probably null	Het
Ntsr2	A	G	12: 16,658,425	Y320C	probably damaging	Het
Olfr1178	C	A	2: 88,391,533	C95*	probably null	Het
Olfr555	G	A	7: 102,659,647	M275I	probably benign	Het
Olfr761	G	A	17: 37,952,424	S200F	possibly damaging	Het
Osbpl3	A	T	6: 50,348,083		probably null	Het
Pcdhb3	C	T	18: 37,301,646	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,659,743	R184S	probably benign	Het
Rad50	A	T	11: 53,669,770		probably null	Het
Rad51ap2	A	T	12: 11,457,559	H494L	probably benign	Het
Rbm25	T	C	12: 83,676,089	M762T	probably damaging	Het
Sars	G	T	3: 108,428,274	S338*	probably null	Het
Usp35	T	C	7: 97,325,948	E6G	probably damaging	Het
Vash2	T	C	1: 190,960,225	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wfdc1	G	A	8: 119,679,407	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,583,348	H224Q	probably benign	Het

Other mutations in Wdr20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Wdr20	APN	12	110779449	nonsense	probably null
IGL01663:Wdr20	APN	12	110793514	missense	probably damaging	1.00
IGL02385:Wdr20	APN	12	110793223	missense	probably benign
IGL02710:Wdr20	APN	12	110793110	splice site	probably benign
IGL02993:Wdr20	APN	12	110794308	nonsense	probably null
R1500:Wdr20	UTSW	12	110794030	missense	probably benign
R1897:Wdr20	UTSW	12	110793723	missense	probably benign
R2006:Wdr20	UTSW	12	110793568	missense	probably damaging	1.00
R3615:Wdr20	UTSW	12	110793939	missense	probably benign
R3616:Wdr20	UTSW	12	110793939	missense	probably benign
R4023:Wdr20	UTSW	12	110793516	missense	probably benign	0.01
R4026:Wdr20	UTSW	12	110793516	missense	probably benign	0.01
R4157:Wdr20	UTSW	12	110738174	missense	possibly damaging	0.68
R4868:Wdr20	UTSW	12	110738234	missense	probably damaging	1.00
R6126:Wdr20	UTSW	12	110794102	missense	probably benign
R6867:Wdr20	UTSW	12	110793699	missense	probably benign
R7081:Wdr20	UTSW	12	110803450	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TTAGTTGCATGACCTGGCCC -3'
(R):5'- AACGCTCAGGGAAGTTTTGATG -3'

Sequencing Primer
(F):5'- CTTTCTTTGACAGCCGG -3'
(R):5'- AAAACATTTCTCTGGGTGGCTACTG -3'

Posted On

2018-07-23