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: 0.879) question?

Stock #

R4868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110737944-110804238 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110738234 bp (GRCm38)

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: 105,710,097	*299W	probably null	Het
4933412E24Rik	G	A	15: 60,015,968	L208F	possibly damaging	Het
Abca8b	G	A	11: 109,974,512	A373V	probably benign	Het
Actn3	A	T	19: 4,864,454	W549R	probably benign	Het
Adamts4	C	T	1: 171,252,431		probably benign	Het
Adcy4	T	C	14: 55,773,722	I615V	probably benign	Het
Akap1	A	G	11: 88,844,553	S428P	possibly damaging	Het
Akap13	A	T	7: 75,743,504	R2476W	probably damaging	Het
Alx3	A	G	3: 107,600,627	S151G	possibly damaging	Het
Aoah	T	A	13: 20,914,981	Y243*	probably null	Het
Asap1	A	G	15: 64,094,181	V1025A	probably benign	Het
Atp8b1	A	T	18: 64,551,866	I728N	probably damaging	Het
Baz2b	C	A	2: 59,924,882	V1001L	possibly damaging	Het
Bmpr2	T	A	1: 59,870,456	S1030T	probably benign	Het
Cacna2d3	A	T	14: 28,956,786		probably null	Het
Casp3	A	T	8: 46,634,279	N87I	probably benign	Het
Ccdc171	T	A	4: 83,694,332	L995Q	probably damaging	Het
Ccdc80	T	A	16: 45,104,413	Y637N	probably damaging	Het
Ccr4	A	G	9: 114,492,833	F55L	probably benign	Het
Cmah	T	A	13: 24,464,264	V494E	probably damaging	Het
Cnot6l	A	G	5: 96,083,023	Y362H	probably damaging	Het
Coq6	T	C	12: 84,370,952	V222A	probably damaging	Het
Ctdspl2	C	A	2: 121,993,398	T240N	possibly damaging	Het
D430041D05Rik	T	C	2: 104,255,409	T248A	possibly damaging	Het
Dctn6	A	T	8: 34,092,076		probably benign	Het
Dhx34	T	C	7: 16,199,802	D955G	probably benign	Het
Dnaaf5	A	G	5: 139,170,186	M541V	probably benign	Het
Dnah17	A	T	11: 118,108,212	S912T	probably benign	Het
Dnah2	A	T	11: 69,463,648	V2248E	probably damaging	Het
Dysf	T	C	6: 84,179,693	W1502R	probably damaging	Het
Dzip1	A	T	14: 118,877,214	V843E	probably damaging	Het
Esp23	G	T	17: 39,074,024	T27K	probably benign	Het
Esp3	A	T	17: 40,633,529	M21L	possibly damaging	Het
Fam43b	T	A	4: 138,395,797	T71S	probably benign	Het
Fam46b	A	G	4: 133,486,082		probably null	Het
Fpgs	G	A	2: 32,692,661	R63C	probably damaging	Het
H2-M11	G	T	17: 36,548,919	W268L	probably damaging	Het
Inpp5b	T	C	4: 124,751,410	S210P	probably damaging	Het
Itsn1	T	A	16: 91,785,317	S51T	probably damaging	Het
Kctd2	G	A	11: 115,429,379	V246I	probably damaging	Het
Krt75	C	T	15: 101,568,121	G403E	probably damaging	Het
Lamp3	T	A	16: 19,701,290	T48S	probably benign	Het
Lyzl4	C	A	9: 121,583,009	V114L	probably damaging	Het
Maml3	C	A	3: 52,103,924	E74*	probably null	Het
Map2k7	G	A	8: 4,247,751		probably benign	Het
Mapk8ip3	A	G	17: 24,901,415	V883A	probably benign	Het
Mbtps1	C	T	8: 119,508,928	V1004I	probably benign	Het
Metap1	G	T	3: 138,483,089	H48Q	probably damaging	Het
Mical2	T	A	7: 112,318,624	V396E	probably damaging	Het
Mks1	T	A	11: 87,853,723		probably benign	Het
Ndst1	T	C	18: 60,695,476	T669A	probably benign	Het
Obox3	T	C	7: 15,627,310	K10R	probably damaging	Het
Olfr1014	T	G	2: 85,776,626	V14G	possibly damaging	Het
Olfr1318	T	A	2: 112,156,571	S207T	probably damaging	Het
Olfr711	C	T	7: 106,971,767	M192I	probably benign	Het
Opn3	T	C	1: 175,663,561	Y302C	probably damaging	Het
Pdzph1	A	T	17: 58,974,756	V177D	probably benign	Het
Pex5l	T	A	3: 32,952,490	I577F	probably damaging	Het
Pmpcb	T	A	5: 21,748,853	Y366*	probably null	Het
Prr14l	A	T	5: 32,829,937	M738K	probably benign	Het
Prx	T	C	7: 27,517,579	S641P	probably benign	Het
Ptchd3	A	G	11: 121,831,057	Y252C	possibly damaging	Het
Reg3a	A	G	6: 78,381,900	E27G	probably damaging	Het
Ripor2	A	G	13: 24,694,141	T300A	possibly damaging	Het
Sdf4	T	A	4: 156,009,185	S259T	probably damaging	Het
Sike1	A	G	3: 102,997,414		probably null	Het
Sis	T	G	3: 72,943,548	I606L	probably benign	Het
Slc30a9	T	C	5: 67,324,683	I94T	probably benign	Het
Slc5a4a	T	C	10: 76,178,231	I424T	probably damaging	Het
Spx	C	T	6: 142,416,390	R72*	probably null	Het
St7	C	A	6: 17,819,266	N56K	probably damaging	Het
Tcte2	C	A	17: 13,728,008	G3V	probably damaging	Het
Tgfb3	T	C	12: 86,062,181	D258G	probably benign	Het
Timeless	G	T	10: 128,247,361	G659V	probably benign	Het
Tnn	T	C	1: 160,130,873	R467G	possibly damaging	Het
Tor1b	T	C	2: 30,956,577		probably null	Het
Trank1	T	A	9: 111,365,641	L911Q	probably damaging	Het
Ttll2	C	T	17: 7,351,599	V310I	probably benign	Het
Ttyh3	A	T	5: 140,629,466	I389N	probably damaging	Het
Ube3b	T	C	5: 114,398,427	V216A	probably benign	Het
Vezf1	T	A	11: 88,074,694	V254E	probably damaging	Het
Vmn1r122	T	C	7: 21,133,302	E276G	probably benign	Het
Vmn1r167	T	A	7: 23,504,736	N285I	probably benign	Het
Vmn2r45	T	A	7: 8,481,481	I442F	probably benign	Het
Vwa8	C	A	14: 79,183,082	A1741E	probably damaging	Het
Xkr4	T	G	1: 3,216,851	Q372P	probably damaging	Het
Zcchc11	T	C	4: 108,549,220		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
R6126:Wdr20	UTSW	12	110794102	missense	probably benign
R6282:Wdr20	UTSW	12	110797009	unclassified	probably benign
R6867:Wdr20	UTSW	12	110793699	missense	probably benign
R7081:Wdr20	UTSW	12	110803450	missense	possibly damaging	0.46
R7842:Wdr20	UTSW	12	110738215	missense	probably benign	0.01
R8045:Wdr20	UTSW	12	110793319	missense	probably damaging	1.00
R8244:Wdr20	UTSW	12	110793642	missense	probably benign	0.01
R9127:Wdr20	UTSW	12	110793163	missense	possibly damaging	0.93
R9561:Wdr20	UTSW	12	110793753	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