Mutagenetix > Incidental Mutation

Incidental Mutation 'R0041:Wdr53'

201501

Institutional Source

Beutler Lab

Gene Symbol

Wdr53

Ensembl Gene

ENSMUSG00000022787

Gene Name

WD repeat domain 53

Synonyms

1500002B03Rik

MMRRC Submission

038335-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0041 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

32066047-32075901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32075473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 226 (V226A)

Ref Sequence

ENSEMBL: ENSMUSP00000135908 (fasta)

Gene Model

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

AlphaFold

Q9DB94

Predicted Effect

probably damaging
Transcript: ENSMUST00000023474
AA Change: V226A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: V226A

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 damaging
Transcript: ENSMUST00000141820
AA Change: V226A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000178573
AA Change: V226A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: V226A

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

0.1437

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (58/60)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,873,986 (GRCm39)	R412G	probably damaging	Het
Adamts3	T	A	5: 89,832,326 (GRCm39)	N927Y	probably benign	Het
Adgra3	A	G	5: 50,117,901 (GRCm39)	Y1216H	probably benign	Het
Agpat3	C	A	10: 78,123,881 (GRCm39)		probably benign	Het
AI182371	T	A	2: 34,975,733 (GRCm39)	Q277L	possibly damaging	Het
Arhgef15	A	T	11: 68,845,342 (GRCm39)	L170Q	possibly damaging	Het
Avpi1	C	A	19: 42,112,223 (GRCm39)	E112*	probably null	Het
Braf	C	T	6: 39,617,413 (GRCm39)	A534T	probably damaging	Het
Bspry	G	C	4: 62,404,791 (GRCm39)	A196P	probably damaging	Het
Cacna1c	T	A	6: 118,570,988 (GRCm39)	L2095F	probably damaging	Het
Cdhr2	A	T	13: 54,874,651 (GRCm39)	S908C	probably damaging	Het
Cntnap5c	C	A	17: 58,183,464 (GRCm39)	Q57K	probably benign	Het
Dtna	C	T	18: 23,779,932 (GRCm39)		probably benign	Het
Dynap	A	G	18: 70,375,105 (GRCm39)	S37P	possibly damaging	Het
Efna5	A	T	17: 62,914,467 (GRCm39)		probably benign	Het
Fancm	T	A	12: 65,153,217 (GRCm39)	C1224*	probably null	Het
Fbxw16	T	A	9: 109,277,232 (GRCm39)	S37C	probably damaging	Het
Galnt4	A	G	10: 98,944,374 (GRCm39)	Y33C	probably benign	Het
Kcnk2	G	T	1: 189,027,888 (GRCm39)	N122K	probably benign	Het
Krt71	C	A	15: 101,647,753 (GRCm39)	E222D	probably damaging	Het
Ltf	T	A	9: 110,858,636 (GRCm39)	D461E	possibly damaging	Het
Mapk4	A	T	18: 74,068,109 (GRCm39)	L274Q	probably damaging	Het
Mbd6	A	G	10: 127,122,741 (GRCm39)	C103R	probably damaging	Het
Nbeal1	A	G	1: 60,321,030 (GRCm39)	N2047S	probably benign	Het
Nefh	C	T	11: 4,895,184 (GRCm39)	S335N	possibly damaging	Het
Obscn	G	T	11: 58,934,803 (GRCm39)	H4715N	probably damaging	Het
Olfml1	A	T	7: 107,189,393 (GRCm39)	I153L	possibly damaging	Het
Or6d13	G	A	6: 116,518,295 (GRCm39)	V294I	possibly damaging	Het
Or8g34	T	A	9: 39,372,772 (GRCm39)	F12Y	probably benign	Het
Pck1	A	G	2: 172,997,003 (GRCm39)	E215G	probably benign	Het
Peg12	T	A	7: 62,113,308 (GRCm39)	E263V	unknown	Het
Phkg1	T	A	5: 129,903,103 (GRCm39)	T15S	probably benign	Het
Plekhg1	T	A	10: 3,914,076 (GRCm39)	L1120*	probably null	Het
Prss59	A	T	6: 40,903,042 (GRCm39)	L110*	probably null	Het
Rlf	T	A	4: 121,007,126 (GRCm39)	H618L	probably damaging	Het
Rnf112	T	A	11: 61,343,181 (GRCm39)	R165W	probably damaging	Het
Rnf213	A	G	11: 119,293,401 (GRCm39)	T51A	probably benign	Het
Rnf220	A	G	4: 117,130,481 (GRCm39)	L293P	probably damaging	Het
Rock1	T	C	18: 10,140,240 (GRCm39)	D117G	probably damaging	Het
Rp1	A	G	1: 4,414,851 (GRCm39)	V2087A	probably benign	Het
Rpl7a	A	G	2: 26,801,563 (GRCm39)		probably null	Het
Serpinb6d	A	G	13: 33,851,615 (GRCm39)	D124G	probably damaging	Het
Skor1	T	G	9: 63,053,133 (GRCm39)	T279P	probably damaging	Het
Son	A	T	16: 91,456,221 (GRCm39)	E1656V	probably damaging	Het
Swap70	A	G	7: 109,878,562 (GRCm39)	K511E	probably benign	Het
Treh	T	C	9: 44,594,910 (GRCm39)	V262A	probably benign	Het
Trpm4	A	G	7: 44,954,370 (GRCm39)		probably null	Het
Ugt8a	T	C	3: 125,708,739 (GRCm39)	I124V	probably benign	Het
Wdr64	G	A	1: 175,554,037 (GRCm39)	W189*	probably null	Het

Other mutations in Wdr53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Wdr53	APN	16	32,075,315 (GRCm39)	nonsense	probably null
IGL01399:Wdr53	APN	16	32,070,718 (GRCm39)	missense	possibly damaging	0.68
R0582:Wdr53	UTSW	16	32,070,726 (GRCm39)	missense	probably damaging	0.96
R1750:Wdr53	UTSW	16	32,070,935 (GRCm39)	missense	probably damaging	1.00
R1883:Wdr53	UTSW	16	32,075,316 (GRCm39)	missense	possibly damaging	0.93
R2428:Wdr53	UTSW	16	32,071,008 (GRCm39)	missense	probably benign	0.19
R3726:Wdr53	UTSW	16	32,075,538 (GRCm39)	missense	probably benign	0.01
R4495:Wdr53	UTSW	16	32,070,969 (GRCm39)	missense	probably benign	0.04
R4883:Wdr53	UTSW	16	32,075,796 (GRCm39)	nonsense	probably null
R4884:Wdr53	UTSW	16	32,075,796 (GRCm39)	nonsense	probably null
R4905:Wdr53	UTSW	16	32,075,476 (GRCm39)	missense	probably benign	0.03
R6031:Wdr53	UTSW	16	32,075,536 (GRCm39)	missense	probably damaging	1.00
R6031:Wdr53	UTSW	16	32,075,536 (GRCm39)	missense	probably damaging	1.00
R6222:Wdr53	UTSW	16	32,075,482 (GRCm39)	missense	probably benign	0.01
R8903:Wdr53	UTSW	16	32,071,130 (GRCm39)	missense	probably damaging	1.00
R8954:Wdr53	UTSW	16	32,075,473 (GRCm39)	missense	probably damaging	1.00
R9013:Wdr53	UTSW	16	32,075,413 (GRCm39)	missense	probably damaging	0.98
R9587:Wdr53	UTSW	16	32,075,830 (GRCm39)	missense	probably damaging	1.00
Z1088:Wdr53	UTSW	16	32,071,116 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGTGGCAAATATGTGCTTGTGC -3'
(R):5'- CGTGTTCAATATCGAGCTTTGGCAG -3'

Sequencing Primer
(F):5'- CTGTGGAGTCTTCAAAAAGCC -3'
(R):5'- ATATCGAGCTTTGGCAGAATCTTTG -3'

Posted On

2014-06-13