Mutagenetix > Incidental Mutations

Incidental Mutation 'R7182:Wdr73'

559046

Institutional Source

Beutler Lab

Gene Symbol

Wdr73

Ensembl Gene

ENSMUSG00000025722

Gene Name

WD repeat domain 73

Synonyms

2410008B13Rik, 1200011I23Rik

MMRRC Submission

Accession Numbers

Genbank: NM_028026; MGI: 1919218

Is this an essential gene?

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

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80890723-80901269 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80893678 bp (GRCm38)

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: 4,849,714	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688	V158A	unknown	Het
Acadm	A	G	3: 153,941,881		probably null	Het
Adcy10	T	G	1: 165,543,470		probably null	Het
Aldh6a1	C	T	12: 84,441,831	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173		probably null	Het
Cep112	A	C	11: 108,682,844	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856	V3A		Het
Dnah7a	T	A	1: 53,620,461		probably null	Het
Dpp10	A	T	1: 123,341,151	H716Q	probably benign	Het
Epor	A	G	9: 21,963,329	F35L	probably benign	Het
Ergic1	A	T	17: 26,654,882	Y92F		Het
Fam71a	C	T	1: 191,163,351	R365H	probably damaging	Het
Fam98a	G	A	17: 75,539,018	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506	M271V	probably damaging	Het
Gk5	G	T	9: 96,119,526	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,315,615	N162K	probably benign	Het
Gm3604	T	C	13: 62,371,875	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176	D287E	possibly damaging	Het
Impdh2	G	A	9: 108,563,208	R231H	possibly damaging	Het
Irak3	T	C	10: 120,166,511	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458		probably null	Het
Lrch3	T	A	16: 32,993,779	D551E	probably benign	Het
Manba	A	T	3: 135,567,513	N736I	probably benign	Het
Map2	A	G	1: 66,412,653	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852	K121N	unknown	Het
Mfn1	T	A	3: 32,564,220	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,866,157		probably null	Het
Mnat1	G	T	12: 73,230,678	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605		probably null	Het
Mtrf1	A	G	14: 79,423,464	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,842,645	R165C	unknown	Het
Naip6	T	A	13: 100,316,149	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101	I5602N	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,844	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757	H1171R	probably benign	Het
Scn4a	T	A	11: 106,330,308	I842F	probably benign	Het
Scnm1	A	T	3: 95,133,854	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361	I137N	probably benign	Het
Slc30a3	T	C	5: 31,086,825	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,089,670	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,911,839	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,656,930	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,998,523	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991	S3552T	probably benign	Het
Tmem62	A	G	2: 121,004,743	I516M	probably benign	Het
Trim61	A	T	8: 65,013,614	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109	Q406R	probably benign	Het
Ttc30b	A	T	2: 75,937,949	Y153*	probably null	Het
Ush2a	A	T	1: 188,753,543	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892	L527P	possibly damaging	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
R0507:Wdr73	UTSW	7	80891846	missense	possibly damaging	0.88
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
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'- TATGCTCCAGGTTTCCCCAG -3'
(R):5'- GTGCCTTTGTCTCAGCACTG -3'

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

Posted On

2019-06-26