Mutagenetix > Incidental Mutation

Incidental Mutation 'R7771:Wdr73'

598570

Institutional Source

Beutler Lab

Gene Symbol

Wdr73

Ensembl Gene

ENSMUSG00000025722

Gene Name

WD repeat domain 73

Synonyms

2410008B13Rik, 1200011I23Rik

MMRRC Submission

045827-MU

Accession Numbers

Genbank: NM_028026; MGI: 1919218

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R7771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80890723-80901269 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80893227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 211 (A211V)

Ref Sequence

ENSEMBL: ENSMUSP00000026816 (fasta)

Gene Model

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

AlphaFold

Q9CWR1

Predicted Effect

probably benign
Transcript: ENSMUST00000026816
AA Change: A211V

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: A211V

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

probably damaging
Transcript: ENSMUST00000146402
AA Change: A184V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722
AA Change: A184V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,239,191	A1287T	probably damaging	Het
Ahnak	A	G	19: 9,015,047	K4565R	probably damaging	Het
Asb13	A	G	13: 3,649,463	Y221C	probably damaging	Het
BB014433	C	T	8: 15,042,395	V153M	probably damaging	Het
Brip1	T	C	11: 86,062,024	E977G	probably benign	Het
C3	T	A	17: 57,215,797	D1029V	probably damaging	Het
Ccdc116	T	C	16: 17,139,591	E568G	probably benign	Het
Cdhr2	T	C	13: 54,718,275	V296A	probably damaging	Het
Cenpe	A	G	3: 135,240,941		probably null	Het
Cnot1	A	G	8: 95,765,125	V357A	probably damaging	Het
Coa3	A	T	11: 101,278,815	M38K	possibly damaging	Het
Cyp2d26	T	C	15: 82,791,746	N255S	probably benign	Het
Cysrt1	T	C	2: 25,239,225	S92G	probably benign	Het
D030056L22Rik	A	G	19: 18,713,478	E52G	possibly damaging	Het
Derl1	T	C	15: 57,880,040	D97G	probably damaging	Het
Ebf3	A	G	7: 137,309,363	Y141H	probably damaging	Het
Eci1	T	A	17: 24,433,151	L49*	probably null	Het
Fam208a	A	G	14: 27,467,559	T923A	probably damaging	Het
Gm7534	A	T	4: 134,195,443	N526K	probably benign	Het
Gzma	C	T	13: 113,098,295	C54Y	probably damaging	Het
Hydin	A	G	8: 110,565,085	N3403S	probably damaging	Het
Ide	T	C	19: 37,298,126	N495D		Het
Ighv1-23	T	A	12: 114,764,736	Q22L	probably benign	Het
Itgb2l	A	G	16: 96,426,972	C444R	probably damaging	Het
Kcnj3	C	A	2: 55,446,937	H272N	probably damaging	Het
Lrp6	C	T	6: 134,462,616	C1218Y	probably damaging	Het
Lrrd1	T	C	5: 3,866,476	M831T	possibly damaging	Het
Map3k11	A	G	19: 5,690,608	E121G	probably damaging	Het
Mzt1	A	T	14: 99,040,576	I52N	probably damaging	Het
Olfr339	T	C	2: 36,422,144	S249P	possibly damaging	Het
Olfr617	A	G	7: 103,584,090	I23V	probably benign	Het
Olfr857	T	A	9: 19,713,471	F215I	probably benign	Het
Pcdhb17	A	C	18: 37,486,909	Y584S	possibly damaging	Het
Per3	A	T	4: 151,041,445	L139Q	probably damaging	Het
Per3	A	T	4: 151,026,200	D380E	probably damaging	Het
Pik3cg	T	C	12: 32,204,014	H658R	probably benign	Het
Pitpnm3	G	A	11: 72,061,488	Q626*	probably null	Het
Polr3e	T	C	7: 120,940,578	V542A	probably benign	Het
Rgs22	T	A	15: 36,050,078	H866L	possibly damaging	Het
Rnf150	A	G	8: 82,864,203	E65G	probably benign	Het
Sema3f	C	A	9: 107,692,426	R100L	possibly damaging	Het
Smim18	T	C	8: 33,742,342	D83G	possibly damaging	Het
Snx13	T	A	12: 35,124,528	D685E	probably benign	Het
Stat5a	A	C	11: 100,863,219	N125T	probably benign	Het
Stk24	T	C	14: 121,337,633	E21G	probably damaging	Het
Tlr3	C	T	8: 45,403,039	V35I	probably benign	Het
Tmem8	T	C	17: 26,122,073	Y717H	probably damaging	Het
Tmprss11b	A	T	5: 86,661,695		probably null	Het
Trpm2	T	C	10: 77,932,179	I829V	probably benign	Het
Ttc37	A	G	13: 76,135,030	H792R	probably benign	Het
Ttc39a	T	C	4: 109,431,450	Y276H	probably damaging	Het
Vmn2r98	T	A	17: 19,067,198		probably null	Het
Zc3h4	T	C	7: 16,429,899	V673A	unknown	Het
Zfp382	A	G	7: 30,133,335	H137R	probably damaging	Het
Zp2	T	G	7: 120,143,642	D89A	probably damaging	Het
Zranb3	A	C	1: 128,032,868	Y220D	probably damaging	Het
Zswim8	G	A	14: 20,712,980	V316I	probably damaging	Het

Other mutations in Wdr73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00710:Wdr73	APN	7	80,893,663 (GRCm38)	missense	probably benign	0.01
IGL02183:Wdr73	APN	7	80,893,760 (GRCm38)	missense	probably damaging	1.00
IGL03253:Wdr73	APN	7	80,897,946 (GRCm38)	missense	probably benign	0.00
3-1:Wdr73	UTSW	7	80,897,959 (GRCm38)	missense	possibly damaging	0.91
R0469:Wdr73	UTSW	7	80,897,950 (GRCm38)	nonsense	probably null
R0507:Wdr73	UTSW	7	80,891,846 (GRCm38)	missense	possibly damaging	0.88
R0510:Wdr73	UTSW	7	80,897,950 (GRCm38)	nonsense	probably null
R1349:Wdr73	UTSW	7	80,893,252 (GRCm38)	missense	probably damaging	1.00
R1782:Wdr73	UTSW	7	80,891,778 (GRCm38)	missense	probably damaging	1.00
R1917:Wdr73	UTSW	7	80,893,333 (GRCm38)	missense	probably benign	0.17
R3085:Wdr73	UTSW	7	80,901,242 (GRCm38)	unclassified	probably benign
R4478:Wdr73	UTSW	7	80,893,221 (GRCm38)	missense	probably benign	0.06
R4479:Wdr73	UTSW	7	80,893,221 (GRCm38)	missense	probably benign	0.06
R4480:Wdr73	UTSW	7	80,893,221 (GRCm38)	missense	probably benign	0.06
R4910:Wdr73	UTSW	7	80,891,708 (GRCm38)	missense	probably damaging	0.97
R4925:Wdr73	UTSW	7	80,893,195 (GRCm38)	missense	probably benign	0.00
R5046:Wdr73	UTSW	7	80,892,425 (GRCm38)	unclassified	probably benign
R5286:Wdr73	UTSW	7	80,891,809 (GRCm38)	missense	probably benign	0.04
R5842:Wdr73	UTSW	7	80,891,710 (GRCm38)	missense	probably damaging	1.00
R6991:Wdr73	UTSW	7	80,891,856 (GRCm38)	missense	probably benign	0.17
R7182:Wdr73	UTSW	7	80,893,678 (GRCm38)	missense	possibly damaging	0.45
R7197:Wdr73	UTSW	7	80,893,198 (GRCm38)	missense	probably benign	0.02
R7362:Wdr73	UTSW	7	80,900,703 (GRCm38)	missense	probably damaging	1.00
R8558:Wdr73	UTSW	7	80,898,506 (GRCm38)	missense	probably damaging	1.00
R8950:Wdr73	UTSW	7	80,900,383 (GRCm38)	missense	probably benign	0.00
X0022:Wdr73	UTSW	7	80,897,951 (GRCm38)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TTTGAACACCGGACACTGGG -3'
(R):5'- CAGGGTTTCTGTGCCAGATG -3'

Sequencing Primer
(F):5'- GCTGAGCTCACAGGATGAC -3'
(R):5'- CACCAGCAGAGCAGACTGG -3'

Posted On

2019-11-26