Mutagenetix > Incidental Mutations

Incidental Mutation 'R6560:Wdr63'

521988

Institutional Source

Beutler Lab

Gene Symbol

Wdr63

Ensembl Gene

ENSMUSG00000043020

Gene Name

WD repeat domain 63

Synonyms

4931433A13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R6560 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146040526-146108130 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146095406 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 99 (E99G)

Ref Sequence

ENSEMBL: ENSMUSP00000124475 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160285
AA Change: E99G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124475
Gene: ENSMUSG00000043020
AA Change: E99G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 80,007,396	L1235Q	probably damaging	Het
Acin1	T	C	14: 54,678,833	T174A	probably benign	Het
Adamtsl1	G	A	4: 86,336,893	R733H	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Arsk	A	T	13: 76,074,986	I164N	probably benign	Het
Bbs5	T	A	2: 69,656,956	N194K	probably damaging	Het
Bicra	T	C	7: 15,989,194	T133A	possibly damaging	Het
Card6	G	A	15: 5,098,885	P1010S	probably damaging	Het
Ccdc18	T	A	5: 108,191,924	N778K	probably benign	Het
Cept1	T	C	3: 106,505,278	I240V	possibly damaging	Het
Crip3	A	G	17: 46,431,036	R150G	probably damaging	Het
Cyp2c50	A	G	19: 40,096,855	T320A	probably benign	Het
Dio2	G	C	12: 90,729,833	S127*	probably null	Het
Dscam	T	C	16: 96,825,735	S325G	probably benign	Het
Exosc4	A	G	15: 76,327,613	I41V	probably benign	Het
Glb1l3	C	T	9: 26,828,424		probably null	Het
Gm10801	C	CGTG	2: 98,663,807		probably null	Het
Gm3072	T	A	14: 41,623,553	D89V	unknown	Het
Gosr2	T	C	11: 103,686,682	H79R	probably damaging	Het
Has2	T	A	15: 56,668,264	T352S	probably damaging	Het
Insig1	T	A	5: 28,071,533	C32*	probably null	Het
Klf9	A	G	19: 23,141,950	S66G	probably damaging	Het
Mfn1	T	C	3: 32,569,516	I263T	probably damaging	Het
Myl2	G	A	5: 122,102,771	G38R	probably null	Het
Negr1	A	G	3: 157,312,857	T332A	probably benign	Het
Neo1	A	G	9: 58,880,601	S1417P	possibly damaging	Het
Olfr599	T	C	7: 103,338,738	F228S	probably benign	Het
Olfr859	G	A	9: 19,809,116	S266N	probably benign	Het
Pcgf3	C	A	5: 108,473,902	H35Q	probably damaging	Het
Plppr5	A	G	3: 117,671,990	I297V	probably benign	Het
Plxna4	C	T	6: 32,215,678	V783M	probably damaging	Het
Prx	A	T	7: 27,515,321	Q85H	probably damaging	Het
Tex14	T	G	11: 87,497,862	M305R	possibly damaging	Het
Ythdc1	T	C	5: 86,816,608	V92A	probably benign	Het
Zfp619	G	A	7: 39,537,530	E995K	probably damaging	Het
Zfp90	A	G	8: 106,415,747	R4G	probably damaging	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
R6390:Wdr63	UTSW	3	146095388	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- AGATTCAGGACGAGCACAC -3'
(R):5'- GAACCATTTTCCTCAAACCTCATG -3'

Sequencing Primer
(F):5'- ATCCAGATGCTGCGCTGAG -3'
(R):5'- TAACTCCAGTTCCAGGGGATC -3'

Posted On

2018-06-06