Mutagenetix > Incidental Mutation

Incidental Mutation 'R3085:Wdr73'

334555

Institutional Source

Beutler Lab

Gene Symbol

Wdr73

Ensembl Gene

ENSMUSG00000025722

Gene Name

WD repeat domain 73

Synonyms

1200011I23Rik, 2410008B13Rik

MMRRC Submission

040574-MU

Accession Numbers

Essential gene?

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

Stock #

R3085 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80540471-80551017 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 80550990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026816] [ENSMUST00000026817] [ENSMUST00000119428]

AlphaFold

Q9CWR1

Predicted Effect

probably benign
Transcript: ENSMUST00000026816

SMART Domains

Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722

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 benign
Transcript: ENSMUST00000026817

SMART Domains

Protein: ENSMUSP00000026817
Gene: ENSMUSG00000025723

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Bombesin	47	60	3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119428

SMART Domains

Protein: ENSMUSP00000113407
Gene: ENSMUSG00000025723

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Bombesin	47	60	1.4e-12	PFAM

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

noncoding transcript
Transcript: ENSMUST00000152518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147154

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,270,536 (GRCm39)		probably benign	Het
Adrm1	T	C	2: 179,816,094 (GRCm39)		probably null	Het
Aldh18a1	T	C	19: 40,562,813 (GRCm39)	I76V	probably benign	Het
Atp1b2	T	C	11: 69,493,705 (GRCm39)	K125E	possibly damaging	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Cdh8	T	C	8: 99,923,018 (GRCm39)	T293A	probably benign	Het
Cenpc1	A	T	5: 86,185,476 (GRCm39)	V345D	probably benign	Het
Col4a3	A	G	1: 82,628,979 (GRCm39)	E131G	unknown	Het
Col4a4	C	T	1: 82,507,285 (GRCm39)		probably null	Het
Creb3l1	G	T	2: 91,825,789 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,341,445 (GRCm39)	D601G	probably benign	Het
Dipk1a	G	T	5: 108,062,290 (GRCm39)	D28E	probably damaging	Het
Dnaaf4	T	A	9: 72,879,688 (GRCm39)	N289K	probably benign	Het
Eml6	T	C	11: 29,759,332 (GRCm39)	E807G	probably damaging	Het
Exog	C	A	9: 119,291,518 (GRCm39)	T241K	probably benign	Het
Eya1	T	C	1: 14,344,314 (GRCm39)	D109G	probably benign	Het
Fat2	C	T	11: 55,142,997 (GRCm39)	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,013,299 (GRCm39)	G130*	probably null	Het
Fcrl5	A	G	3: 87,353,771 (GRCm39)	Y372C	probably damaging	Het
Gli3	T	C	13: 15,835,526 (GRCm39)	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,490,852 (GRCm39)	R284H	probably benign	Het
Havcr1	C	T	11: 46,647,052 (GRCm39)	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,039,340 (GRCm39)	F947S	probably damaging	Het
Irx1	G	T	13: 72,111,411 (GRCm39)	A66E	probably damaging	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Kynu	A	G	2: 43,492,312 (GRCm39)	M190V	probably benign	Het
Lrp2	T	C	2: 69,297,479 (GRCm39)	T3161A	probably benign	Het
Macrod1	G	T	19: 7,173,859 (GRCm39)	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,288,296 (GRCm39)	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,040,007 (GRCm39)	R806H	probably benign	Het
Nags	T	A	11: 102,036,810 (GRCm39)	V133D	probably damaging	Het
Nrg3	C	A	14: 38,092,906 (GRCm39)	D560Y	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Or4p23	A	G	2: 88,576,488 (GRCm39)	F248S	probably damaging	Het
Or5af2	T	C	11: 58,708,553 (GRCm39)	S240P	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pde6d	T	C	1: 86,475,248 (GRCm39)		probably null	Het
Plekhf1	T	C	7: 37,921,001 (GRCm39)	E189G	probably benign	Het
Ppm1b	A	T	17: 85,321,288 (GRCm39)	I477L	probably benign	Het
Rad51ap2	C	A	12: 11,506,758 (GRCm39)	Q227K	possibly damaging	Het
Rnf125	T	C	18: 21,110,787 (GRCm39)	V15A	probably benign	Het
Rnps1	C	T	17: 24,631,393 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,798,898 (GRCm39)	I953V	possibly damaging	Het
Sash1	A	T	10: 8,618,186 (GRCm39)		probably null	Het
Smarcc2	T	C	10: 128,324,028 (GRCm39)		probably benign	Het
Stx12	T	A	4: 132,584,672 (GRCm39)	E224V	probably damaging	Het
Sun1	T	C	5: 139,221,356 (GRCm39)	V357A	probably benign	Het
Synpo2l	T	C	14: 20,712,248 (GRCm39)	D350G	probably damaging	Het
Tex15	A	T	8: 34,064,913 (GRCm39)	N1448Y	probably benign	Het
Tfpi	A	G	2: 84,273,227 (GRCm39)		probably benign	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Tmem40	T	C	6: 115,718,576 (GRCm39)	D43G	possibly damaging	Het
Tshz2	T	A	2: 169,725,871 (GRCm39)	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,809,077 (GRCm39)		probably null	Het
Vmn2r85	T	C	10: 130,261,081 (GRCm39)	M419V	probably benign	Het
Zc3hc1	C	T	6: 30,374,763 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,682,664 (GRCm39)	Y3368H	unknown	Het
Zfp263	G	A	16: 3,567,580 (GRCm39)	E632K	probably damaging	Het
Zfp266	A	G	9: 20,412,240 (GRCm39)	L111P	probably damaging	Het
Zfp626	T	A	7: 27,517,587 (GRCm39)	S189R	probably benign	Het
Zfp772	T	C	7: 7,206,699 (GRCm39)	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,157,889 (GRCm39)	C797Y	probably 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
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
R7182:Wdr73	UTSW	7	80,543,426 (GRCm39)	missense	possibly damaging	0.45
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'- TTGCTTACAAAGGACCCAGAG -3'
(R):5'- CGATCCTGCTTGTAGCTGAC -3'

Sequencing Primer
(F):5'- CCAGAGTCCCAGAGCTAGAG -3'
(R):5'- AGCTGACATCGATGGATCTG -3'

Posted On

2015-08-31