Mutagenetix > Incidental Mutation

Incidental Mutation 'R3615:Wdr20'

268444

Institutional Source

Beutler Lab

Gene Symbol

Wdr20

Ensembl Gene

ENSMUSG00000037957

Gene Name

WD repeat domain 20

Synonyms

Wdr20a, 2310040A13Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R3615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110704378-110770672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110760373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 420 (T420A)

Ref Sequence

ENSEMBL: ENSMUSP00000093059 (fasta)

Gene Model

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

AlphaFold

Q3UWE6

Predicted Effect

probably benign
Transcript: ENSMUST00000095410
AA Change: T420A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093059
Gene: ENSMUSG00000037957
AA Change: T420A

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

0.0615

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (40/41)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,257 (GRCm39)	T818A	probably benign	Het
Aasdh	A	G	5: 77,036,629 (GRCm39)	V304A	probably benign	Het
Angptl3	G	A	4: 98,922,702 (GRCm39)	A248T	probably benign	Het
Ap2b1	T	A	11: 83,215,391 (GRCm39)	C112S	possibly damaging	Het
Aqr	A	T	2: 113,967,368 (GRCm39)	I549N	probably damaging	Het
Barhl1	C	T	2: 28,801,562 (GRCm39)	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942 (GRCm39)	V821A	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dnah1	A	G	14: 31,037,105 (GRCm39)	L247P	possibly damaging	Het
Dpysl2	T	A	14: 67,071,819 (GRCm39)	H107L	probably damaging	Het
Dzip3	A	G	16: 48,757,426 (GRCm39)	L869S	probably damaging	Het
Efs	T	C	14: 55,157,552 (GRCm39)	Y160C	probably damaging	Het
Enam	A	T	5: 88,652,306 (GRCm39)	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam184b	A	G	5: 45,740,157 (GRCm39)	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,572,828 (GRCm39)	Y105*	probably null	Het
Fiz1	A	G	7: 5,011,171 (GRCm39)	L449P	probably benign	Het
Foxi2	T	A	7: 135,012,180 (GRCm39)	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,666,914 (GRCm39)	R212Q	probably damaging	Het
Gm5105	C	A	3: 137,755,449 (GRCm39)	A46S	unknown	Het
Grik5	C	T	7: 24,721,996 (GRCm39)	A581T	probably benign	Het
Gse1	C	G	8: 121,299,481 (GRCm39)		probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Krt25	A	C	11: 99,208,124 (GRCm39)	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Lamc1	T	C	1: 153,126,896 (GRCm39)	K417E	probably damaging	Het
Miip	A	G	4: 147,950,371 (GRCm39)	M75T	probably benign	Het
Nlrp10	A	G	7: 108,523,683 (GRCm39)	F599S	probably benign	Het
Nlrp12	T	A	7: 3,289,205 (GRCm39)	M436L	probably benign	Het
Or4b13	T	C	2: 90,082,753 (GRCm39)	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,581,058 (GRCm39)	S57F	probably damaging	Het
Pla2g2e	G	A	4: 138,607,685 (GRCm39)	V22I	probably benign	Het
Plekhd1	A	G	12: 80,764,044 (GRCm39)	E202G	probably damaging	Het
Prss21	A	G	17: 24,091,805 (GRCm39)	T258A	probably benign	Het
Prss34	A	G	17: 25,517,820 (GRCm39)	E65G	probably benign	Het
Psap	A	G	10: 60,130,383 (GRCm39)	N149S	probably benign	Het
Ptprf	C	T	4: 118,095,080 (GRCm39)	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520 (GRCm39)	L12P	probably damaging	Het
Sf3b3	A	G	8: 111,571,155 (GRCm39)	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,065,427 (GRCm39)	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,560,886 (GRCm39)	L397Q	probably damaging	Het
Smg5	A	G	3: 88,243,758 (GRCm39)	S10G	possibly damaging	Het
Spata31e5	T	C	1: 28,815,656 (GRCm39)	D792G	probably benign	Het
Spata31g1	A	G	4: 42,971,864 (GRCm39)	N399S	probably benign	Het
Tas2r102	C	T	6: 132,739,781 (GRCm39)	Q230*	probably null	Het
Tdo2	A	G	3: 81,882,735 (GRCm39)	Y13H	possibly damaging	Het
Tmem231	C	T	8: 112,644,945 (GRCm39)	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,592,353 (GRCm39)	M254T	probably damaging	Het
Trpm1	G	A	7: 63,893,318 (GRCm39)	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,617,879 (GRCm39)	K347N	probably damaging	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Vash2	T	C	1: 190,702,616 (GRCm39)	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,439,866 (GRCm39)	I235T	possibly damaging	Het

Other mutations in Wdr20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Wdr20	APN	12	110,745,883 (GRCm39)	nonsense	probably null
IGL01663:Wdr20	APN	12	110,759,948 (GRCm39)	missense	probably damaging	1.00
IGL02385:Wdr20	APN	12	110,759,657 (GRCm39)	missense	probably benign
IGL02710:Wdr20	APN	12	110,759,544 (GRCm39)	splice site	probably benign
IGL02993:Wdr20	APN	12	110,760,742 (GRCm39)	nonsense	probably null
R1500:Wdr20	UTSW	12	110,760,464 (GRCm39)	missense	probably benign
R1897:Wdr20	UTSW	12	110,760,157 (GRCm39)	missense	probably benign
R2006:Wdr20	UTSW	12	110,760,002 (GRCm39)	missense	probably damaging	1.00
R3616:Wdr20	UTSW	12	110,760,373 (GRCm39)	missense	probably benign
R4023:Wdr20	UTSW	12	110,759,950 (GRCm39)	missense	probably benign	0.01
R4026:Wdr20	UTSW	12	110,759,950 (GRCm39)	missense	probably benign	0.01
R4157:Wdr20	UTSW	12	110,704,608 (GRCm39)	missense	possibly damaging	0.68
R4868:Wdr20	UTSW	12	110,704,668 (GRCm39)	missense	probably damaging	1.00
R6126:Wdr20	UTSW	12	110,760,536 (GRCm39)	missense	probably benign
R6282:Wdr20	UTSW	12	110,763,443 (GRCm39)	unclassified	probably benign
R6867:Wdr20	UTSW	12	110,760,133 (GRCm39)	missense	probably benign
R7081:Wdr20	UTSW	12	110,769,884 (GRCm39)	missense	possibly damaging	0.46
R7842:Wdr20	UTSW	12	110,704,649 (GRCm39)	missense	probably benign	0.01
R8045:Wdr20	UTSW	12	110,759,753 (GRCm39)	missense	probably damaging	1.00
R8244:Wdr20	UTSW	12	110,760,076 (GRCm39)	missense	probably benign	0.01
R9127:Wdr20	UTSW	12	110,759,597 (GRCm39)	missense	possibly damaging	0.93
R9561:Wdr20	UTSW	12	110,760,187 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCGCCCTGTAAGTGTTACG -3'
(R):5'- CACTGCTCTTGCTGGAAATG -3'

Sequencing Primer
(F):5'- CGCCCTGTAAGTGTTACGTATCG -3'
(R):5'- TGCTGGAAATGTGTCCCATAC -3'

Posted On

2015-02-19