Mutagenetix > Incidental Mutation

Incidental Mutation 'R1917:Wdr73'

212605

Institutional Source

Beutler Lab

Gene Symbol

Wdr73

Ensembl Gene

ENSMUSG00000025722

Gene Name

WD repeat domain 73

Synonyms

2410008B13Rik, 1200011I23Rik

MMRRC Submission

039935-MU

Accession Numbers

Essential gene?

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

Stock #

R1917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80890723-80901269 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80893333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 176 (D176N)

Ref Sequence

ENSEMBL: ENSMUSP00000026816 (fasta)

Gene Model

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

AlphaFold

Q9CWR1

Predicted Effect

probably benign
Transcript: ENSMUST00000026816
AA Change: D176N

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: D176N

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: ENSMUST00000147154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152518

Meta Mutation Damage Score

0.0947

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 93.6%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	A	G	11: 29,824,039 (GRCm38)	S473P	probably benign	Het
Abca8a	A	G	11: 110,091,515 (GRCm38)		probably benign	Het
Adgre5	A	G	8: 83,729,109 (GRCm38)	V190A	probably damaging	Het
Akap6	A	G	12: 53,104,612 (GRCm38)	N1153S	probably benign	Het
Aldh1a7	G	A	19: 20,727,455 (GRCm38)	H20Y	probably benign	Het
B430306N03Rik	A	G	17: 48,324,148 (GRCm38)	E278G	probably benign	Het
Cacna1b	C	A	2: 24,616,879 (GRCm38)	R72L	probably null	Het
Cc2d2a	C	G	5: 43,706,222 (GRCm38)	S675R	probably damaging	Het
Ccdc88b	T	A	19: 6,849,226 (GRCm38)	E1040D	probably damaging	Het
Cmtm7	A	G	9: 114,763,364 (GRCm38)	V55A	probably damaging	Het
Coq4	A	C	2: 29,789,926 (GRCm38)	T77P	probably damaging	Het
Cyp2j11	C	A	4: 96,339,974 (GRCm38)	W136L	probably damaging	Het
Dctn2	T	A	10: 127,275,049 (GRCm38)	Y86*	probably null	Het
Ddx56	A	G	11: 6,263,937 (GRCm38)		probably null	Het
Dopey2	T	C	16: 93,716,262 (GRCm38)	S30P	probably damaging	Het
Ep400	T	C	5: 110,703,575 (GRCm38)	K1347R	unknown	Het
Fat3	T	A	9: 15,997,057 (GRCm38)	T2550S	possibly damaging	Het
Fcrla	G	T	1: 170,927,526 (GRCm38)	C5*	probably null	Het
Fermt1	T	A	2: 132,922,842 (GRCm38)	D365V	probably damaging	Het
Fhod3	A	G	18: 24,989,965 (GRCm38)		probably benign	Het
Fhod3	A	G	18: 25,085,601 (GRCm38)	D807G	probably benign	Het
Fnip1	C	T	11: 54,480,684 (GRCm38)	T177I	probably damaging	Het
Gart	T	C	16: 91,628,149 (GRCm38)	Y662C	probably damaging	Het
Gda	A	T	19: 21,397,640 (GRCm38)		probably benign	Het
Gk	A	G	X: 85,760,580 (GRCm38)	I85T	probably damaging	Het
Gm12169	A	G	11: 46,528,531 (GRCm38)	D58G	possibly damaging	Het
Gm14548	C	T	7: 3,897,638 (GRCm38)	V38M	probably damaging	Het
Gm3476	A	G	14: 6,118,358 (GRCm38)	L255P	possibly damaging	Het
Gm9966	T	C	7: 95,958,477 (GRCm38)	C2R	unknown	Het
Gnpda1	T	C	18: 38,333,190 (GRCm38)		probably null	Het
Gtf2h4	G	A	17: 35,670,198 (GRCm38)	L246F	possibly damaging	Het
Hao1	A	T	2: 134,523,060 (GRCm38)	S216T	probably benign	Het
Hnrnpr	C	A	4: 136,332,488 (GRCm38)	S301*	probably null	Het
Hsd3b2	A	G	3: 98,712,026 (GRCm38)	I201T	probably benign	Het
Jade2	T	C	11: 51,818,538 (GRCm38)	E548G	possibly damaging	Het
Katnbl1	T	C	2: 112,409,179 (GRCm38)	I241T	probably benign	Het
Keap1	G	T	9: 21,233,806 (GRCm38)	Q299K	probably benign	Het
Kif1a	T	C	1: 93,019,031 (GRCm38)	I1650V	possibly damaging	Het
Lrba	G	A	3: 86,664,501 (GRCm38)	G275R	probably damaging	Het
Map3k9	C	A	12: 81,780,790 (GRCm38)	E29*	probably null	Het
Mat1a	G	A	14: 41,121,437 (GRCm38)	V307I	probably damaging	Het
Mcm2	A	T	6: 88,891,803 (GRCm38)	M324K	possibly damaging	Het
Metap1d	T	C	2: 71,511,527 (GRCm38)	V155A	probably damaging	Het
Mtbp	A	G	15: 55,564,677 (GRCm38)		probably benign	Het
Myh14	T	C	7: 44,657,925 (GRCm38)	T231A	probably benign	Het
Mylk4	A	T	13: 32,724,853 (GRCm38)	D90E	probably benign	Het
Myo15b	T	A	11: 115,882,254 (GRCm38)	I1837K	possibly damaging	Het
Myo3a	T	A	2: 22,291,922 (GRCm38)	H242Q	probably damaging	Het
Nxn	A	G	11: 76,261,672 (GRCm38)		probably benign	Het
Olfr791	T	A	10: 129,527,049 (GRCm38)	V274D	probably damaging	Het
Pak3	C	A	X: 143,791,302 (GRCm38)	A553E	possibly damaging	Het
Pdia2	T	A	17: 26,198,105 (GRCm38)	T122S	possibly damaging	Het
Plod2	A	G	9: 92,581,257 (GRCm38)	T132A	probably benign	Het
Ptprz1	T	A	6: 23,035,040 (GRCm38)		probably benign	Het
Rad54b	A	C	4: 11,601,693 (GRCm38)	N416T	probably damaging	Het
Recql4	A	T	15: 76,703,837 (GRCm38)	Y1142*	probably null	Het
Rnf216	A	G	5: 142,992,806 (GRCm38)	V859A	probably benign	Het
Scnm1	G	T	3: 95,130,273 (GRCm38)	P161T	possibly damaging	Het
Serpinb6b	A	G	13: 32,978,240 (GRCm38)	I222V	probably benign	Het
Serpinf1	A	G	11: 75,411,007 (GRCm38)	I274T	possibly damaging	Het
Slc28a1	T	C	7: 81,169,586 (GRCm38)	F641L	probably benign	Het
Slc8a2	A	G	7: 16,152,920 (GRCm38)	I657V	probably benign	Het
Smchd1	A	G	17: 71,407,237 (GRCm38)	I877T	possibly damaging	Het
Spata31	T	C	13: 64,920,865 (GRCm38)	Y276H	possibly damaging	Het
Spire2	A	G	8: 123,363,071 (GRCm38)	D447G	probably benign	Het
Stk3	G	A	15: 35,073,217 (GRCm38)	T119I	probably damaging	Het
Stxbp5	C	A	10: 9,812,298 (GRCm38)	V420F	possibly damaging	Het
Sult2a5	T	C	7: 13,670,684 (GRCm38)	F282S	probably damaging	Het
Syk	A	T	13: 52,622,708 (GRCm38)	D248V	probably damaging	Het
Thoc6	C	T	17: 23,669,390 (GRCm38)		probably benign	Het
Tll2	T	A	19: 41,128,497 (GRCm38)	D293V	possibly damaging	Het
Umodl1	G	A	17: 30,984,043 (GRCm38)	V457M	probably damaging	Het
Usp19	T	A	9: 108,499,325 (GRCm38)	C689*	probably null	Het
Usp24	T	G	4: 106,410,286 (GRCm38)	V1955G	probably damaging	Het
Vmn1r226	T	C	17: 20,687,580 (GRCm38)	S25P	probably damaging	Het
Vmn2r69	C	T	7: 85,411,683 (GRCm38)	C231Y	probably damaging	Het
Wnt7b	T	A	15: 85,559,080 (GRCm38)	I41F	probably damaging	Het
Zfhx3	T	C	8: 108,956,248 (GRCm38)	S3440P	unknown	Het
Zfp52	T	G	17: 21,560,164 (GRCm38)	N91K	probably benign	Het
Zfp930	C	A	8: 69,228,705 (GRCm38)	Q350K	probably benign	Het
Zfp949	T	C	9: 88,570,062 (GRCm38)	S562P	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
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
R7771:Wdr73	UTSW	7	80,893,227 (GRCm38)	missense	probably benign	0.13
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'- CAGAGATTCCGGGAGTCAAG -3'
(R):5'- CAGGGTTTCTGTGCCAGATG -3'

Sequencing Primer
(F):5'- AGACAGAGCTGCCCATCTGAG -3'
(R):5'- GGAAACCTGGAGCATACAGTG -3'

Posted On

2014-07-14