Mutagenetix > Incidental Mutation

Incidental Mutation 'R6222:Wdr53'

504105

Institutional Source

Beutler Lab

Gene Symbol

Wdr53

Ensembl Gene

ENSMUSG00000022787

Gene Name

WD repeat domain 53

Synonyms

1500002B03Rik

MMRRC Submission

044353-MU

Accession Numbers

Essential gene?

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

Stock #

R6222 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32066047-32075901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32075482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 229 (V229A)

Ref Sequence

ENSEMBL: ENSMUSP00000135908 (fasta)

Gene Model

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

AlphaFold

Q9DB94

Predicted Effect

probably benign
Transcript: ENSMUST00000023474
AA Change: V229A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: V229A

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: V229A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000178573
AA Change: V229A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: V229A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,531,923 (GRCm39)	*217W	probably null	Het
Abcc3	A	G	11: 94,259,431 (GRCm39)	F337L	probably benign	Het
Abcc4	T	A	14: 118,767,368 (GRCm39)	H903L	probably damaging	Het
Akap7	T	A	10: 25,159,844 (GRCm39)	K119*	probably null	Het
Als2	T	C	1: 59,219,284 (GRCm39)	D1222G	probably benign	Het
Ano4	T	C	10: 88,863,084 (GRCm39)	Y296C	probably damaging	Het
Arid1b	A	G	17: 5,377,922 (GRCm39)		probably null	Het
Arl10	T	C	13: 54,726,644 (GRCm39)	F141L	probably damaging	Het
B130006D01Rik	T	C	11: 95,616,988 (GRCm39)		probably benign	Het
Bbs9	T	A	9: 22,479,147 (GRCm39)	S197T	possibly damaging	Het
Bicd1	A	T	6: 149,414,463 (GRCm39)	D392V	probably damaging	Het
Bmi1	T	A	2: 18,688,513 (GRCm39)	M168K	possibly damaging	Het
C7	A	T	15: 5,041,423 (GRCm39)	D494E	possibly damaging	Het
Cacna1s	A	T	1: 136,032,360 (GRCm39)	N1221I	probably benign	Het
Cacng7	A	G	7: 3,385,128 (GRCm39)	T10A	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdpf1	T	C	15: 85,691,643 (GRCm39)	R108G	possibly damaging	Het
Ceacam5	A	T	7: 17,479,472 (GRCm39)	K196N	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Cma2	T	C	14: 56,210,649 (GRCm39)	I112T	possibly damaging	Het
Cntnap4	A	G	8: 113,569,353 (GRCm39)	S916G	probably damaging	Het
Cwf19l2	T	A	9: 3,454,569 (GRCm39)	Y627*	probably null	Het
Fam204a	A	G	19: 60,188,400 (GRCm39)		probably null	Het
Galnt1	T	A	18: 24,397,591 (GRCm39)		probably null	Het
Gbe1	T	C	16: 70,325,900 (GRCm39)		probably null	Het
Gm6871	C	T	7: 41,196,006 (GRCm39)	D244N	probably damaging	Het
Gna15	T	C	10: 81,347,880 (GRCm39)	T189A	probably damaging	Het
Igsf10	C	T	3: 59,226,336 (GRCm39)	D2446N	possibly damaging	Het
Ing2	T	C	8: 48,121,966 (GRCm39)	K194R	possibly damaging	Het
Ino80d	G	A	1: 63,097,684 (GRCm39)	H737Y	probably damaging	Het
Izumo4	C	T	10: 80,538,885 (GRCm39)	R83W	probably damaging	Het
Kcnt1	G	A	2: 25,782,522 (GRCm39)	V219M	probably damaging	Het
Kiz	A	T	2: 146,732,981 (GRCm39)	S386C	probably damaging	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Or2ad1	T	C	13: 21,327,047 (GRCm39)	Y60C	probably damaging	Het
Or4c100	T	C	2: 88,329,614 (GRCm39)	Y62H	probably benign	Het
Pdzd2	T	C	15: 12,374,652 (GRCm39)	K1828E	probably damaging	Het
Prl3a1	T	C	13: 27,460,097 (GRCm39)	F194L	probably benign	Het
Prss1l	A	T	6: 41,374,100 (GRCm39)	Y234F	probably damaging	Het
Reg1	A	T	6: 78,404,357 (GRCm39)	Q77L	probably benign	Het
Ruvbl2	G	T	7: 45,074,149 (GRCm39)	D248E	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Serpinb5	T	A	1: 106,798,070 (GRCm39)	C20S	probably benign	Het
Sh2d4b	A	C	14: 40,542,694 (GRCm39)	S361A	probably damaging	Het
Snx2	T	A	18: 53,332,896 (GRCm39)	L190*	probably null	Het
Sorcs3	A	T	19: 48,748,296 (GRCm39)	Y755F	possibly damaging	Het
Styxl2	G	T	1: 165,926,214 (GRCm39)	Q1133K	probably benign	Het
Tiam2	A	G	17: 3,503,613 (GRCm39)	Q930R	probably damaging	Het
Tll1	C	A	8: 64,551,568 (GRCm39)	G271V	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Tmem181a	T	C	17: 6,351,192 (GRCm39)	V367A	probably benign	Het
Umodl1	T	C	17: 31,221,866 (GRCm39)		probably null	Het
Virma	C	T	4: 11,527,820 (GRCm39)	A1187V	probably damaging	Het
Zcchc10	T	C	11: 53,223,289 (GRCm39)		probably benign	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
R0041:Wdr53	UTSW	16	32,075,473 (GRCm39)	missense	probably damaging	1.00
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
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'- AAAAGCCCGTCCTGTTTGG -3'
(R):5'- AGAATCTTTGCATGCCCCTC -3'

Sequencing Primer
(F):5'- TGGATTACAAATTTACAGGAGGATG -3'
(R):5'- TGGAGTTTCCACCCTGCGTG -3'

Posted On

2018-02-28