Mutagenetix > Incidental Mutations

Incidental Mutation 'R2428:Wdr53'

250323

Institutional Source

Beutler Lab

Gene Symbol

Wdr53

Ensembl Gene

ENSMUSG00000022787

Gene Name

WD repeat domain 53

Synonyms

1500002B03Rik

MMRRC Submission

040390-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32247227-32257083 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32252190 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 118 (I118V)

Ref Sequence

ENSEMBL: ENSMUSP00000135908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023474] [ENSMUST00000135289] [ENSMUST00000141820] [ENSMUST00000178573]

Predicted Effect

probably benign
Transcript: ENSMUST00000023474
AA Change: I118V

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: I118V

Domain	Start	End	E-Value	Type
WD40	1	37	1.14e2	SMART
WD40	83	122	9.94e-1	SMART
WD40	125	165	3.09e-5	SMART
WD40	188	225	1.65e1	SMART
WD40	228	269	1.86e-8	SMART
Blast:WD40	314	354	4e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000135289

Predicted Effect

probably benign
Transcript: ENSMUST00000141820
AA Change: I118V

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000178573
AA Change: I118V

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: I118V

Domain	Start	End	E-Value	Type
WD40	1	37	1.14e2	SMART
WD40	83	122	9.94e-1	SMART
WD40	125	165	3.09e-5	SMART
WD40	188	225	1.65e1	SMART
WD40	228	269	1.86e-8	SMART
Blast:WD40	314	354	4e-11	BLAST

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (31/31)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	T	1: 105,746,126	S1080L	possibly damaging	Het
Acad9	G	A	3: 36,090,923	A624T	probably benign	Het
Astn1	C	T	1: 158,612,346	A828V	possibly damaging	Het
Bag6	A	C	17: 35,147,175	D1117A	probably damaging	Het
Col12a1	A	T	9: 79,602,251	C3042S	probably benign	Het
Ctc1	G	A	11: 69,027,701	V265I	possibly damaging	Het
Cubn	T	C	2: 13,476,150	Y298C	probably damaging	Het
Dmtn	G	A	14: 70,613,403	R183W	probably damaging	Het
F2rl2	T	A	13: 95,697,077	I5N	possibly damaging	Het
Gpr137c	A	G	14: 45,278,963	Y336C	probably damaging	Het
Gstm6	T	A	3: 107,943,606	I10F	possibly damaging	Het
Hivep3	T	A	4: 120,098,508	C1340*	probably null	Het
Igf1	A	G	10: 87,864,821	T36A	probably damaging	Het
Lrch1	T	A	14: 74,807,545		probably benign	Het
Mrpl40	A	T	16: 18,872,375	I195N	probably damaging	Het
Myg1	G	C	15: 102,337,736	G349R	probably damaging	Het
Ndufc1	A	C	3: 51,408,143		probably null	Het
Nfasc	T	C	1: 132,595,654	N973S	possibly damaging	Het
Olfr1013	A	T	2: 85,769,978	Y59F	probably damaging	Het
Olfr1318	G	A	2: 112,156,442	V164I	probably benign	Het
Olfr644	G	A	7: 104,068,468	R188*	probably null	Het
Olfr805	T	C	10: 129,722,783	I254V	probably benign	Het
Pkdrej	C	A	15: 85,817,572	E1388*	probably null	Het
Prrc2b	T	A	2: 32,216,055	D1482E	probably benign	Het
Sppl2a	A	T	2: 126,912,695	S403R	possibly damaging	Het
Tespa1	A	G	10: 130,362,075	D322G	probably damaging	Het
Tmcc2	C	T	1: 132,360,831	V373M	probably damaging	Het
Ttn	T	C	2: 76,814,173	N13079S	possibly damaging	Het
Zdbf2	T	C	1: 63,305,615	M1051T	probably benign	Het
Zfp784	G	C	7: 5,038,358		probably benign	Het

Other mutations in Wdr53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Wdr53	APN	16	32256497	nonsense	probably null
IGL01399:Wdr53	APN	16	32251900	missense	possibly damaging	0.68
R0041:Wdr53	UTSW	16	32256655	missense	probably damaging	1.00
R0582:Wdr53	UTSW	16	32251908	missense	probably damaging	0.96
R1750:Wdr53	UTSW	16	32252117	missense	probably damaging	1.00
R1883:Wdr53	UTSW	16	32256498	missense	possibly damaging	0.93
R3726:Wdr53	UTSW	16	32256720	missense	probably benign	0.01
R4495:Wdr53	UTSW	16	32252151	missense	probably benign	0.04
R4883:Wdr53	UTSW	16	32256978	nonsense	probably null
R4884:Wdr53	UTSW	16	32256978	nonsense	probably null
R4905:Wdr53	UTSW	16	32256658	missense	probably benign	0.03
R6031:Wdr53	UTSW	16	32256718	missense	probably damaging	1.00
R6031:Wdr53	UTSW	16	32256718	missense	probably damaging	1.00
R6222:Wdr53	UTSW	16	32256664	missense	probably benign	0.01
Z1088:Wdr53	UTSW	16	32252298	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGATGGGACCCCGTTAG -3'
(R):5'- TGCTCAGAAATTACCCAAATGC -3'

Sequencing Primer
(F):5'- CCCGTTAGGACACATGCAATTGG -3'
(R):5'- CAGAAATTACCCAAATGCTCTTTGC -3'

Posted On

2014-11-12