Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Wdr73'

559046

Institutional Source

Beutler Lab

Gene Symbol

Wdr73

Ensembl Gene

ENSMUSG00000025722

Gene Name

WD repeat domain 73

Synonyms

1200011I23Rik, 2410008B13Rik

MMRRC Submission

045234-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80540471-80551017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80543426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 163 (V163A)

Ref Sequence

ENSEMBL: ENSMUSP00000026816 (fasta)

Gene Model

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

AlphaFold

Q9CWR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026816
AA Change: V163A

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: V163A

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

SMART Domains

Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722
AA Change: V161A

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,578 (GRCm39)	V323A	unknown	Het
AC117241.1	A	G	17: 7,620,087 (GRCm39)	V158A	unknown	Het
Acadm	A	G	3: 153,647,518 (GRCm39)		probably null	Het
Adcy10	T	G	1: 165,371,039 (GRCm39)		probably null	Het
Aldh6a1	C	T	12: 84,488,605 (GRCm39)	A94T	probably benign	Het
Ano2	T	A	6: 125,767,256 (GRCm39)	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,596,629 (GRCm39)	R1828H	probably damaging	Het
Ccdc33	A	T	9: 57,941,456 (GRCm39)		probably null	Het
Cep112	A	C	11: 108,573,670 (GRCm39)	D6A	probably benign	Het
Chd9	T	C	8: 91,733,250 (GRCm39)	F1373S	unknown	Het
Cog5	T	C	12: 31,735,707 (GRCm39)	L158P	probably damaging	Het
Col6a3	G	A	1: 90,731,400 (GRCm39)	Q1618*	probably null	Het
Dlg5	A	G	14: 24,294,924 (GRCm39)	V3A		Het
Dnah7a	T	A	1: 53,659,620 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,268,880 (GRCm39)	H716Q	probably benign	Het
Epor	A	G	9: 21,874,625 (GRCm39)	F35L	probably benign	Het
Ergic1	A	T	17: 26,873,856 (GRCm39)	Y92F		Het
Fam98a	G	A	17: 75,846,013 (GRCm39)	Q273*	probably null	Het
Fhdc1	G	A	3: 84,356,157 (GRCm39)	T429I	probably damaging	Het
Fmnl2	T	A	2: 52,997,453 (GRCm39)	L468Q	unknown	Het
Fmnl3	C	T	15: 99,219,663 (GRCm39)	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,811,333 (GRCm39)	M271V	probably damaging	Het
Garin4	C	T	1: 190,895,548 (GRCm39)	R365H	probably damaging	Het
Gk5	G	T	9: 96,001,579 (GRCm39)	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,007,408 (GRCm39)	N162K	probably benign	Het
Gm3604	T	C	13: 62,519,689 (GRCm39)	D22G	probably damaging	Het
Gm5565	G	T	5: 146,094,865 (GRCm39)	H294N	probably benign	Het
Hsf2	T	A	10: 57,381,272 (GRCm39)	D287E	possibly damaging	Het
Ift70b	A	T	2: 75,768,293 (GRCm39)	Y153*	probably null	Het
Impdh2	G	A	9: 108,440,407 (GRCm39)	R231H	possibly damaging	Het
Irak3	T	C	10: 120,002,416 (GRCm39)	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,648,765 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,814,149 (GRCm39)	D551E	probably benign	Het
Manba	A	T	3: 135,273,274 (GRCm39)	N736I	probably benign	Het
Map2	A	G	1: 66,451,812 (GRCm39)	D234G	possibly damaging	Het
Mdk	C	A	2: 91,761,197 (GRCm39)	K121N	unknown	Het
Mfn1	T	A	3: 32,618,369 (GRCm39)	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,916,157 (GRCm39)		probably null	Het
Mnat1	G	T	12: 73,277,452 (GRCm39)	E233*	probably null	Het
Mtmr4	T	C	11: 87,495,431 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,660,904 (GRCm39)	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,396,382 (GRCm39)	R165C	unknown	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Nod2	A	G	8: 89,390,460 (GRCm39)	T256A	probably benign	Het
Notch4	T	A	17: 34,802,473 (GRCm39)	V1298E	probably damaging	Het
Nudc	G	T	4: 133,261,776 (GRCm39)	D169E	possibly damaging	Het
Obscn	A	T	11: 58,925,927 (GRCm39)	I5602N	probably damaging	Het
Or5b114-ps1	G	A	19: 13,353,208 (GRCm39)	G294E	unknown	Het
Osbpl10	G	A	9: 114,896,319 (GRCm39)	D18N	probably damaging	Het
Pigk	G	A	3: 152,428,188 (GRCm39)	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,621,153 (GRCm39)	E26K	probably damaging	Het
Prpf8	A	G	11: 75,381,553 (GRCm39)	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,132,070 (GRCm39)	D159G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,774,643 (GRCm39)	H1171R	probably benign	Het
Scn4a	T	A	11: 106,221,134 (GRCm39)	I842F	probably benign	Het
Scnm1	A	T	3: 95,041,165 (GRCm39)	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,400,457 (GRCm39)	I137N	probably benign	Het
Slc30a3	T	C	5: 31,244,169 (GRCm39)	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,247,014 (GRCm39)	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,857,565 (GRCm39)	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,602,656 (GRCm39)	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,648,271 (GRCm39)	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991 (GRCm39)	S3552T	probably benign	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Trim61	A	T	8: 65,466,266 (GRCm39)	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520 (GRCm39)	T227P	probably benign	Het
Trpc3	T	C	3: 36,709,258 (GRCm39)	Q406R	probably benign	Het
Ush2a	A	T	1: 188,485,740 (GRCm39)	Y2950F	probably benign	Het
Usp32	C	T	11: 84,930,996 (GRCm39)	G478D	probably benign	Het
Wdfy3	A	G	5: 102,091,758 (GRCm39)	L527P	possibly damaging	Het

Other mutations in Wdr73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00710:Wdr73	APN	7	80,543,411 (GRCm39)	missense	probably benign	0.01
IGL02183:Wdr73	APN	7	80,543,508 (GRCm39)	missense	probably damaging	1.00
IGL03253:Wdr73	APN	7	80,547,694 (GRCm39)	missense	probably benign	0.00
3-1:Wdr73	UTSW	7	80,547,707 (GRCm39)	missense	possibly damaging	0.91
R0469:Wdr73	UTSW	7	80,547,698 (GRCm39)	nonsense	probably null
R0507:Wdr73	UTSW	7	80,541,594 (GRCm39)	missense	possibly damaging	0.88
R0510:Wdr73	UTSW	7	80,547,698 (GRCm39)	nonsense	probably null
R1349:Wdr73	UTSW	7	80,543,000 (GRCm39)	missense	probably damaging	1.00
R1782:Wdr73	UTSW	7	80,541,526 (GRCm39)	missense	probably damaging	1.00
R1917:Wdr73	UTSW	7	80,543,081 (GRCm39)	missense	probably benign	0.17
R3085:Wdr73	UTSW	7	80,550,990 (GRCm39)	unclassified	probably benign
R4478:Wdr73	UTSW	7	80,542,969 (GRCm39)	missense	probably benign	0.06
R4479:Wdr73	UTSW	7	80,542,969 (GRCm39)	missense	probably benign	0.06
R4480:Wdr73	UTSW	7	80,542,969 (GRCm39)	missense	probably benign	0.06
R4910:Wdr73	UTSW	7	80,541,456 (GRCm39)	missense	probably damaging	0.97
R4925:Wdr73	UTSW	7	80,542,943 (GRCm39)	missense	probably benign	0.00
R5046:Wdr73	UTSW	7	80,542,173 (GRCm39)	unclassified	probably benign
R5286:Wdr73	UTSW	7	80,541,557 (GRCm39)	missense	probably benign	0.04
R5842:Wdr73	UTSW	7	80,541,458 (GRCm39)	missense	probably damaging	1.00
R6991:Wdr73	UTSW	7	80,541,604 (GRCm39)	missense	probably benign	0.17
R7197:Wdr73	UTSW	7	80,542,946 (GRCm39)	missense	probably benign	0.02
R7362:Wdr73	UTSW	7	80,550,451 (GRCm39)	missense	probably damaging	1.00
R7771:Wdr73	UTSW	7	80,542,975 (GRCm39)	missense	probably benign	0.13
R8558:Wdr73	UTSW	7	80,548,254 (GRCm39)	missense	probably damaging	1.00
R8950:Wdr73	UTSW	7	80,550,131 (GRCm39)	missense	probably benign	0.00
X0022:Wdr73	UTSW	7	80,547,699 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TATGCTCCAGGTTTCCCCAG -3'
(R):5'- GTGCCTTTGTCTCAGCACTG -3'

Sequencing Primer
(F):5'- CAGGTTTCCCCAGCATCTG -3'
(R):5'- GCCTTCTAAATGTCAGGGCAG -3'

Posted On

2019-06-26