Mutagenetix > Incidental Mutation

Incidental Mutation 'R4868:Wdr20'

376352

Institutional Source

Beutler Lab

Gene Symbol

Wdr20

Ensembl Gene

ENSMUSG00000037957

Gene Name

WD repeat domain 20

Synonyms

Wdr20a, 2310040A13Rik

MMRRC Submission

042478-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R4868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110704378-110770672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110704668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 69 (V69E)

Ref Sequence

ENSEMBL: ENSMUSP00000141887 (fasta)

Gene Model

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

AlphaFold

Q3UWE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000095410
AA Change: V69E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093059
Gene: ENSMUSG00000037957
AA Change: V69E

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

noncoding transcript
Transcript: ENSMUST00000191611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191983

Predicted Effect

probably damaging
Transcript: ENSMUST00000192870
AA Change: V69E

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

SMART Domains

Protein: ENSMUSP00000141887
Gene: ENSMUSG00000037957
AA Change: V69E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000193053
AA Change: V69E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141678
Gene: ENSMUSG00000037957
AA Change: V69E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000195886
AA Change: V9E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142157
Gene: ENSMUSG00000037957
AA Change: V9E

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

Meta Mutation Damage Score

0.4635

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

99% (91/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,729 (GRCm39)	*299W	probably null	Het
4933412E24Rik	G	A	15: 59,887,817 (GRCm39)	L208F	possibly damaging	Het
Abca8b	G	A	11: 109,865,338 (GRCm39)	A373V	probably benign	Het
Actn3	A	T	19: 4,914,482 (GRCm39)	W549R	probably benign	Het
Adamts4	C	T	1: 171,080,000 (GRCm39)		probably benign	Het
Adcy4	T	C	14: 56,011,179 (GRCm39)	I615V	probably benign	Het
Akap1	A	G	11: 88,735,379 (GRCm39)	S428P	possibly damaging	Het
Akap13	A	T	7: 75,393,252 (GRCm39)	R2476W	probably damaging	Het
Alx3	A	G	3: 107,507,943 (GRCm39)	S151G	possibly damaging	Het
Aoah	T	A	13: 21,099,151 (GRCm39)	Y243*	probably null	Het
Asap1	A	G	15: 63,966,030 (GRCm39)	V1025A	probably benign	Het
Atp8b1	A	T	18: 64,684,937 (GRCm39)	I728N	probably damaging	Het
Baz2b	C	A	2: 59,755,226 (GRCm39)	V1001L	possibly damaging	Het
Bmpr2	T	A	1: 59,909,615 (GRCm39)	S1030T	probably benign	Het
Cacna2d3	A	T	14: 28,678,743 (GRCm39)		probably null	Het
Casp3	A	T	8: 47,087,314 (GRCm39)	N87I	probably benign	Het
Ccdc171	T	A	4: 83,612,569 (GRCm39)	L995Q	probably damaging	Het
Ccdc80	T	A	16: 44,924,776 (GRCm39)	Y637N	probably damaging	Het
Ccr4	A	G	9: 114,321,901 (GRCm39)	F55L	probably benign	Het
Cmah	T	A	13: 24,648,247 (GRCm39)	V494E	probably damaging	Het
Cnot6l	A	G	5: 96,230,882 (GRCm39)	Y362H	probably damaging	Het
Coq6	T	C	12: 84,417,726 (GRCm39)	V222A	probably damaging	Het
Ctdspl2	C	A	2: 121,823,879 (GRCm39)	T240N	possibly damaging	Het
D430041D05Rik	T	C	2: 104,085,754 (GRCm39)	T248A	possibly damaging	Het
Dctn6	A	T	8: 34,559,230 (GRCm39)		probably benign	Het
Dhx34	T	C	7: 15,933,727 (GRCm39)	D955G	probably benign	Het
Dnaaf5	A	G	5: 139,155,941 (GRCm39)	M541V	probably benign	Het
Dnah17	A	T	11: 117,999,038 (GRCm39)	S912T	probably benign	Het
Dnah2	A	T	11: 69,354,474 (GRCm39)	V2248E	probably damaging	Het
Dysf	T	C	6: 84,156,675 (GRCm39)	W1502R	probably damaging	Het
Dzip1	A	T	14: 119,114,626 (GRCm39)	V843E	probably damaging	Het
Esp23	G	T	17: 39,384,915 (GRCm39)	T27K	probably benign	Het
Esp3	A	T	17: 40,944,420 (GRCm39)	M21L	possibly damaging	Het
Fam43b	T	A	4: 138,123,108 (GRCm39)	T71S	probably benign	Het
Fpgs	G	A	2: 32,582,673 (GRCm39)	R63C	probably damaging	Het
H2-M11	G	T	17: 36,859,811 (GRCm39)	W268L	probably damaging	Het
Inpp5b	T	C	4: 124,645,203 (GRCm39)	S210P	probably damaging	Het
Itsn1	T	A	16: 91,582,205 (GRCm39)	S51T	probably damaging	Het
Kctd2	G	A	11: 115,320,205 (GRCm39)	V246I	probably damaging	Het
Krt75	C	T	15: 101,476,556 (GRCm39)	G403E	probably damaging	Het
Lamp3	T	A	16: 19,520,040 (GRCm39)	T48S	probably benign	Het
Lyzl4	C	A	9: 121,412,075 (GRCm39)	V114L	probably damaging	Het
Maml3	C	A	3: 52,011,345 (GRCm39)	E74*	probably null	Het
Map2k7	G	A	8: 4,297,751 (GRCm39)		probably benign	Het
Mapk8ip3	A	G	17: 25,120,389 (GRCm39)	V883A	probably benign	Het
Mbtps1	C	T	8: 120,235,667 (GRCm39)	V1004I	probably benign	Het
Metap1	G	T	3: 138,188,850 (GRCm39)	H48Q	probably damaging	Het
Mical2	T	A	7: 111,917,831 (GRCm39)	V396E	probably damaging	Het
Mks1	T	A	11: 87,744,549 (GRCm39)		probably benign	Het
Ndst1	T	C	18: 60,828,548 (GRCm39)	T669A	probably benign	Het
Obox3	T	C	7: 15,361,235 (GRCm39)	K10R	probably damaging	Het
Opn3	T	C	1: 175,491,127 (GRCm39)	Y302C	probably damaging	Het
Or4f62	T	A	2: 111,986,916 (GRCm39)	S207T	probably damaging	Het
Or6b6	C	T	7: 106,570,974 (GRCm39)	M192I	probably benign	Het
Or9g8	T	G	2: 85,606,970 (GRCm39)	V14G	possibly damaging	Het
Pdzph1	A	T	17: 59,281,751 (GRCm39)	V177D	probably benign	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Pmpcb	T	A	5: 21,953,851 (GRCm39)	Y366*	probably null	Het
Prr14l	A	T	5: 32,987,281 (GRCm39)	M738K	probably benign	Het
Prx	T	C	7: 27,217,004 (GRCm39)	S641P	probably benign	Het
Ptchd3	A	G	11: 121,721,883 (GRCm39)	Y252C	possibly damaging	Het
Reg3a	A	G	6: 78,358,883 (GRCm39)	E27G	probably damaging	Het
Ripor2	A	G	13: 24,878,124 (GRCm39)	T300A	possibly damaging	Het
Sdf4	T	A	4: 156,093,642 (GRCm39)	S259T	probably damaging	Het
Sike1	A	G	3: 102,904,730 (GRCm39)		probably null	Het
Sis	T	G	3: 72,850,881 (GRCm39)	I606L	probably benign	Het
Slc30a9	T	C	5: 67,482,026 (GRCm39)	I94T	probably benign	Het
Slc5a4a	T	C	10: 76,014,065 (GRCm39)	I424T	probably damaging	Het
Spx	C	T	6: 142,362,116 (GRCm39)	R72*	probably null	Het
St7	C	A	6: 17,819,265 (GRCm39)	N56K	probably damaging	Het
Tcte2	C	A	17: 13,948,270 (GRCm39)	G3V	probably damaging	Het
Tent5b	A	G	4: 133,213,393 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,108,955 (GRCm39)	D258G	probably benign	Het
Timeless	G	T	10: 128,083,230 (GRCm39)	G659V	probably benign	Het
Tnn	T	C	1: 159,958,443 (GRCm39)	R467G	possibly damaging	Het
Tor1b	T	C	2: 30,846,589 (GRCm39)		probably null	Het
Trank1	T	A	9: 111,194,709 (GRCm39)	L911Q	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ttyh3	A	T	5: 140,615,221 (GRCm39)	I389N	probably damaging	Het
Tut4	T	C	4: 108,406,417 (GRCm39)		probably benign	Het
Ube3b	T	C	5: 114,536,488 (GRCm39)	V216A	probably benign	Het
Vezf1	T	A	11: 87,965,520 (GRCm39)	V254E	probably damaging	Het
Vmn1r122	T	C	7: 20,867,227 (GRCm39)	E276G	probably benign	Het
Vmn1r167	T	A	7: 23,204,161 (GRCm39)	N285I	probably benign	Het
Vmn2r45	T	A	7: 8,484,480 (GRCm39)	I442F	probably benign	Het
Vwa8	C	A	14: 79,420,522 (GRCm39)	A1741E	probably damaging	Het
Xkr4	T	G	1: 3,287,074 (GRCm39)	Q372P	probably 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
R3615:Wdr20	UTSW	12	110,760,373 (GRCm39)	missense	probably benign
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
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'- CAGGATGAACGCTGCTTTCC -3'
(R):5'- GTTACCGGCCCACTCAAAAG -3'

Sequencing Primer
(F):5'- AACGCTGCTTTCCAAGATGG -3'
(R):5'- AAGTACAAGTGCCGGCC -3'

Posted On

2016-03-17