Mutagenetix > Incidental Mutations

Incidental Mutation 'R0507:Wdr73'

47659

Institutional Source

Beutler Lab

Gene Symbol

Wdr73

Ensembl Gene

ENSMUSG00000025722

Gene Name

WD repeat domain 73

Synonyms

2410008B13Rik, 1200011I23Rik

MMRRC Submission

038702-MU

Accession Numbers

Genbank: NM_028026; MGI: 1919218

Is this an essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R0507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80890723-80901269 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80891846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 316 (E316G)

Ref Sequence

ENSEMBL: ENSMUSP00000026816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026816]

AlphaFold

Q9CWR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026816
AA Change: E316G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: E316G

Domain	Start	End	E-Value	Type
WD40	67	112	8.52e1	SMART
Blast:WD40	162	204	3e-6	BLAST
Blast:WD40	208	254	3e-17	BLAST
WD40	263	304	2.57e0	SMART
WD40	314	364	8.91e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139990

Predicted Effect

probably benign
Transcript: ENSMUST00000146402

SMART Domains

Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722

Domain	Start	End	E-Value	Type
Blast:WD40	66	111	3e-26	BLAST
Blast:WD40	182	228	4e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152518

Meta Mutation Damage Score

0.0953

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	T	C	8: 105,284,719	N261S	probably damaging	Het
Abca7	T	A	10: 80,002,821		probably benign	Het
Adamts16	T	C	13: 70,768,647	D742G	probably benign	Het
Akap9	G	A	5: 4,069,043	E3517K	probably benign	Het
Arfgef3	T	C	10: 18,591,621	T1944A	probably damaging	Het
Bsx	A	G	9: 40,876,500		probably benign	Het
Cct2	A	T	10: 117,055,246		probably null	Het
Cdkl4	T	C	17: 80,543,808	D155G	probably benign	Het
Cep250	C	T	2: 155,992,532	R2126C	possibly damaging	Het
Cep97	A	T	16: 55,905,882		probably benign	Het
Cpne3	C	T	4: 19,532,544		probably benign	Het
Csmd1	T	C	8: 16,185,344		probably benign	Het
Cx3cr1	C	A	9: 120,051,956	D127Y	probably damaging	Het
Dcdc2a	A	G	13: 25,102,589	Q165R	probably damaging	Het
Ddx17	A	G	15: 79,537,557		probably benign	Het
Dicer1	A	G	12: 104,691,658	S1886P	probably damaging	Het
Egf	T	C	3: 129,681,179	D571G	possibly damaging	Het
Fyb	A	G	15: 6,634,816	D460G	probably benign	Het
Gbp2	G	T	3: 142,630,033	D165Y	probably damaging	Het
Gm14124	T	A	2: 150,268,124	C245S	possibly damaging	Het
Gm14412	A	T	2: 177,314,532	N523K	possibly damaging	Het
Gsap	C	T	5: 21,269,963	T540I	possibly damaging	Het
Gucy2d	C	A	7: 98,459,002		probably null	Het
Icam4	C	A	9: 21,029,503	P17Q	possibly damaging	Het
Lyz1	A	T	10: 117,289,117		probably null	Het
Mbd6	A	G	10: 127,283,520		probably benign	Het
Mroh3	A	T	1: 136,190,980	I533N	probably damaging	Het
Muc4	A	T	16: 32,751,069	M316L	probably benign	Het
Myof	A	G	19: 37,901,277	I1282T	possibly damaging	Het
Ncald	T	G	15: 37,397,284	I51L	probably benign	Het
Negr1	T	A	3: 156,562,225	S11T	probably damaging	Het
Obscn	T	C	11: 59,029,341	N6735D	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr1500	T	A	19: 13,827,776	I207F	possibly damaging	Het
Olfr503	T	C	7: 108,545,085	S185P	probably damaging	Het
Olfr786	A	T	10: 129,437,288	M159L	probably benign	Het
Otogl	A	G	10: 107,866,740	V684A	possibly damaging	Het
Palm3	A	G	8: 84,028,329	T157A	probably benign	Het
Pard3	T	A	8: 127,371,486		probably benign	Het
Pcdh15	A	G	10: 74,621,297	D1302G	probably damaging	Het
Pi16	G	A	17: 29,327,852	E467K	possibly damaging	Het
Plec	A	T	15: 76,172,783	I4183N	probably damaging	Het
Ppp1r13l	T	C	7: 19,375,814	L720P	possibly damaging	Het
Prag1	A	G	8: 36,104,123	E620G	probably damaging	Het
Ralbp1	G	A	17: 65,849,960	T646M	probably benign	Het
Rnf182	T	G	13: 43,668,347	S125A	probably benign	Het
Rpe	C	T	1: 66,715,141	T124I	probably benign	Het
Rufy4	T	C	1: 74,146,716	I514T	probably benign	Het
Sec13	A	T	6: 113,735,119	I85N	probably damaging	Het
Siglec1	C	T	2: 131,074,525		probably benign	Het
Skint5	T	C	4: 113,567,930		probably null	Het
Slc4a3	T	A	1: 75,556,081	I995K	probably damaging	Het
Smyd4	T	A	11: 75,399,708	S545T	possibly damaging	Het
Steap3	C	T	1: 120,241,583	R328H	possibly damaging	Het
Tgm6	G	A	2: 130,138,831	E183K	possibly damaging	Het
Themis	T	A	10: 28,781,832	V132E	possibly damaging	Het
Thsd1	T	A	8: 22,258,679	I461N	probably damaging	Het
Ttk	T	G	9: 83,868,067	S692A	probably damaging	Het
Twf1	A	G	15: 94,585,530	M99T	probably damaging	Het
Uchl3	T	A	14: 101,667,007	L89*	probably null	Het
Uhmk1	A	G	1: 170,207,191	V316A	probably damaging	Het
Unc80	A	G	1: 66,527,893	N886S	possibly damaging	Het
Vash2	G	T	1: 190,966,918		probably benign	Het
Vmn1r200	G	A	13: 22,395,548	E174K	probably benign	Het
Vps16	T	C	2: 130,437,712		probably null	Het
Xpo1	T	C	11: 23,294,682	V1020A	possibly damaging	Het
Ylpm1	T	A	12: 85,029,112	N870K	probably benign	Het
Zfhx4	C	T	3: 5,400,988	Q2069*	probably null	Het
Zfp512b	C	A	2: 181,584,964		probably benign	Het

Other mutations in Wdr73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00710:Wdr73	APN	7	80893663	missense	probably benign	0.01
IGL02183:Wdr73	APN	7	80893760	missense	probably damaging	1.00
IGL03253:Wdr73	APN	7	80897946	missense	probably benign	0.00
3-1:Wdr73	UTSW	7	80897959	missense	possibly damaging	0.91
R0469:Wdr73	UTSW	7	80897950	nonsense	probably null
R0510:Wdr73	UTSW	7	80897950	nonsense	probably null
R1349:Wdr73	UTSW	7	80893252	missense	probably damaging	1.00
R1782:Wdr73	UTSW	7	80891778	missense	probably damaging	1.00
R1917:Wdr73	UTSW	7	80893333	missense	probably benign	0.17
R3085:Wdr73	UTSW	7	80901242	unclassified	probably benign
R4478:Wdr73	UTSW	7	80893221	missense	probably benign	0.06
R4479:Wdr73	UTSW	7	80893221	missense	probably benign	0.06
R4480:Wdr73	UTSW	7	80893221	missense	probably benign	0.06
R4910:Wdr73	UTSW	7	80891708	missense	probably damaging	0.97
R4925:Wdr73	UTSW	7	80893195	missense	probably benign	0.00
R5046:Wdr73	UTSW	7	80892425	unclassified	probably benign
R5286:Wdr73	UTSW	7	80891809	missense	probably benign	0.04
R5842:Wdr73	UTSW	7	80891710	missense	probably damaging	1.00
R6991:Wdr73	UTSW	7	80891856	missense	probably benign	0.17
R7182:Wdr73	UTSW	7	80893678	missense	possibly damaging	0.45
R7197:Wdr73	UTSW	7	80893198	missense	probably benign	0.02
R7362:Wdr73	UTSW	7	80900703	missense	probably damaging	1.00
R7771:Wdr73	UTSW	7	80893227	missense	probably benign	0.13
R8558:Wdr73	UTSW	7	80898506	missense	probably damaging	1.00
R8950:Wdr73	UTSW	7	80900383	missense	probably benign	0.00
X0022:Wdr73	UTSW	7	80897951	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- GGAACACAGCCTGCTGCTATACAC -3'
(R):5'- GCCTGTACAACTACCCCATACGATG -3'

Sequencing Primer
(F):5'- cctctcaaacaactcctcttctc -3'
(R):5'- TACGATGCGGACACATCC -3'

Posted On

2013-06-12