Mutagenetix > Incidental Mutation

Incidental Mutation 'R6390:Wdr63'

515720

Institutional Source

Beutler Lab

Gene Symbol

Wdr63

Ensembl Gene

ENSMUSG00000043020

Gene Name

WD repeat domain 63

Synonyms

4931433A13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6390 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146040526-146108130 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146095388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 105 (L105P)

Ref Sequence

ENSEMBL: ENSMUSP00000124475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160285]

AlphaFold

B2RY71

Predicted Effect

probably damaging
Transcript: ENSMUST00000160285
AA Change: L105P

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

SMART Domains

Protein: ENSMUSP00000124475
Gene: ENSMUSG00000043020
AA Change: L105P

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	26	35	N/A	INTRINSIC
low complexity region	133	150	N/A	INTRINSIC
low complexity region	165	180	N/A	INTRINSIC
Blast:WD40	321	367	6e-19	BLAST
low complexity region	375	383	N/A	INTRINSIC
WD40	390	429	6.34e-2	SMART
WD40	470	527	1.15e-4	SMART
low complexity region	536	553	N/A	INTRINSIC
WD40	693	732	1.07e1	SMART
WD40	737	776	1.1e2	SMART
coiled coil region	867	902	N/A	INTRINSIC

Meta Mutation Damage Score

0.3993

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg9a	G	T	1: 75,187,981	P113Q	probably damaging	Het
Ccdc150	A	G	1: 54,368,017	D1073G	probably benign	Het
Cd8a	A	G	6: 71,373,929	Y126C	probably damaging	Het
Cdca8	A	G	4: 124,936,375	M68T	probably damaging	Het
Cyp2d26	G	A	15: 82,792,624	P174S	possibly damaging	Het
Esco1	T	G	18: 10,567,528	N311H	probably damaging	Het
Evx1	A	G	6: 52,315,857	M183V	probably benign	Het
Fam111a	T	G	19: 12,588,160	Y424*	probably null	Het
Fat4	T	C	3: 38,980,380	I2727T	probably damaging	Het
Ggt6	T	A	11: 72,436,611	Y107N	possibly damaging	Het
Habp2	G	C	19: 56,306,823	E49Q	possibly damaging	Het
Hibadh	A	C	6: 52,556,489	L214R	probably damaging	Het
Ift57	T	G	16: 49,762,473		probably null	Het
Irak4	T	C	15: 94,561,486	S328P	probably damaging	Het
Krtap6-2	A	T	16: 89,419,946	Y44*	probably null	Het
Lrrc46	T	C	11: 97,040,931	T22A	probably damaging	Het
Muc2	G	T	7: 141,752,146	V230L	probably damaging	Het
Ncan	T	C	8: 70,115,249	D71G	probably benign	Het
Nsd2	T	C	5: 33,881,181	S779P	probably damaging	Het
Rps6ka5	G	T	12: 100,570,992	T493K	probably damaging	Het
Slc6a21	A	T	7: 45,287,002	M135L	probably benign	Het
Sprtn	A	G	8: 124,903,219	N417S	probably benign	Het
Trim61	T	A	8: 65,014,190	M140L	probably benign	Het
Vars	C	A	17: 35,015,639	A1148E	probably benign	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Vmn2r112	T	C	17: 22,605,249	V495A	probably benign	Het
Vmn2r117	A	T	17: 23,460,114	V712E	possibly damaging	Het
Wdfy4	T	C	14: 33,104,094	D1200G	probably damaging	Het
Zbtb6	A	T	2: 37,428,678	S413T	probably benign	Het
Zp2	G	T	7: 120,141,230	N170K	probably benign	Het

Other mutations in Wdr63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Wdr63	APN	3	146083004	missense	probably benign
IGL00565:Wdr63	APN	3	146044919	splice site	probably benign
IGL01339:Wdr63	APN	3	146042836	missense	probably benign	0.14
IGL01952:Wdr63	APN	3	146097163	missense	probably damaging	0.96
IGL02663:Wdr63	APN	3	146054557	missense	possibly damaging	0.53
IGL02710:Wdr63	APN	3	146048148	missense	possibly damaging	0.96
P0041:Wdr63	UTSW	3	146081242	missense	possibly damaging	0.96
R0014:Wdr63	UTSW	3	146081423	splice site	probably null
R0014:Wdr63	UTSW	3	146081423	splice site	probably null
R0498:Wdr63	UTSW	3	146081364	missense	possibly damaging	0.54
R0589:Wdr63	UTSW	3	146062331	missense	probably benign	0.01
R1484:Wdr63	UTSW	3	146097241	missense	probably benign	0.02
R1537:Wdr63	UTSW	3	146042749	missense	probably damaging	0.98
R1611:Wdr63	UTSW	3	146095358	missense	probably damaging	1.00
R1743:Wdr63	UTSW	3	146097262	missense	possibly damaging	0.81
R1861:Wdr63	UTSW	3	146083046	missense	probably damaging	1.00
R1991:Wdr63	UTSW	3	146063480	missense	possibly damaging	0.82
R2185:Wdr63	UTSW	3	146066864	missense	possibly damaging	0.76
R4299:Wdr63	UTSW	3	146068806	missense	probably damaging	1.00
R4620:Wdr63	UTSW	3	146042809	missense	probably damaging	1.00
R4649:Wdr63	UTSW	3	146048167	missense	probably damaging	1.00
R4914:Wdr63	UTSW	3	146066827	missense	probably damaging	0.98
R4948:Wdr63	UTSW	3	146083065	nonsense	probably null
R5578:Wdr63	UTSW	3	146097228	nonsense	probably null
R6130:Wdr63	UTSW	3	146042804	missense	probably benign	0.25
R6162:Wdr63	UTSW	3	146044862	missense	probably damaging	1.00
R6291:Wdr63	UTSW	3	146066893	missense	probably benign	0.00
R6560:Wdr63	UTSW	3	146095406	missense	possibly damaging	0.79
R6893:Wdr63	UTSW	3	146080429	missense	probably damaging	1.00
R7090:Wdr63	UTSW	3	146040827	missense	possibly damaging	0.80
R7102:Wdr63	UTSW	3	146055704	missense	possibly damaging	0.49
R7111:Wdr63	UTSW	3	146097273	missense	probably damaging	0.99
R7260:Wdr63	UTSW	3	146046540	missense	probably benign	0.01
R7288:Wdr63	UTSW	3	146081252	missense	probably damaging	0.97
R7411:Wdr63	UTSW	3	146097145	missense	probably damaging	0.98
R7417:Wdr63	UTSW	3	146093080	splice site	probably null
R7466:Wdr63	UTSW	3	146055618	missense	probably benign	0.01
R7860:Wdr63	UTSW	3	146066920	missense	probably damaging	0.99
R7964:Wdr63	UTSW	3	146068776	missense	probably benign	0.09
R8013:Wdr63	UTSW	3	146081285	missense	probably damaging	1.00
R8059:Wdr63	UTSW	3	146046673	missense	possibly damaging	0.75
R8191:Wdr63	UTSW	3	146094311	missense	probably damaging	1.00
R8354:Wdr63	UTSW	3	146097227	missense	probably damaging	1.00
R8454:Wdr63	UTSW	3	146097227	missense	probably damaging	1.00
R8770:Wdr63	UTSW	3	146046543	missense	probably benign	0.01
R8967:Wdr63	UTSW	3	146055640	missense	possibly damaging	0.95
R9135:Wdr63	UTSW	3	146066834	missense	probably benign	0.39
R9310:Wdr63	UTSW	3	146097140	critical splice donor site	probably null
R9664:Wdr63	UTSW	3	146042839	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGCATTCTATTTGGGAGAACC -3'
(R):5'- AAAACGTCCATGGCTCCCTTG -3'

Sequencing Primer
(F):5'- TTTGCACAGATTCAGGACGAGC -3'
(R):5'- CCCTTGTGTTCTTACTTTGGGAGC -3'

Posted On

2018-05-04