Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Wdr73'

284336

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr73

Ensembl Gene

ENSMUSG00000025722

Gene Name

WD repeat domain 73

Synonyms

1200011I23Rik, 2410008B13Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

80540471-80551017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80543508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 136 (W136R)

Ref Sequence

ENSEMBL: ENSMUSP00000026816 (fasta)

Gene Model

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

AlphaFold

Q9CWR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000026816
AA Change: W136R

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

SMART Domains

Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: W136R

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

unknown
Transcript: ENSMUST00000146402
AA Change: W134R

SMART Domains

Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722
AA Change: W134R

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

Coding Region Coverage

Validation Efficiency

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
Ace2	T	A	X: 162,960,465 (GRCm39)		probably benign	Het
Acsm4	A	T	7: 119,293,075 (GRCm39)		probably null	Het
Apcdd1	T	C	18: 63,084,925 (GRCm39)	M374T	probably damaging	Het
Arid4b	A	G	13: 14,344,575 (GRCm39)	E551G	possibly damaging	Het
Bag4	A	T	8: 26,258,058 (GRCm39)	L423Q	probably damaging	Het
Celf1	C	T	2: 90,831,831 (GRCm39)	P96S	probably damaging	Het
Cracdl	G	A	1: 37,664,459 (GRCm39)	P480S	possibly damaging	Het
Cry2	G	A	2: 92,243,384 (GRCm39)	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,825,477 (GRCm39)	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,886 (GRCm39)	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,118,384 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,847,228 (GRCm39)	C1695S	possibly damaging	Het
Elmo3	T	C	8: 106,034,955 (GRCm39)	L415P	probably benign	Het
Entpd5	A	G	12: 84,427,154 (GRCm39)		probably benign	Het
Gpatch11	T	C	17: 79,149,660 (GRCm39)		probably null	Het
Gprin3	C	A	6: 59,330,147 (GRCm39)	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460 (GRCm39)	T358P	probably damaging	Het
Hcn2	T	C	10: 79,560,647 (GRCm39)		probably null	Het
Hivep3	A	G	4: 119,989,221 (GRCm39)	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,799,635 (GRCm39)	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,302,034 (GRCm39)	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,917,403 (GRCm39)		probably benign	Het
Ighg2b	A	G	12: 113,271,449 (GRCm39)	S35P	unknown	Het
Jmy	T	C	13: 93,635,750 (GRCm39)	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,552,669 (GRCm39)	I1215T	probably benign	Het
Krt84	T	C	15: 101,440,791 (GRCm39)	I134V	unknown	Het
Magi3	T	A	3: 103,992,663 (GRCm39)	M270L	probably benign	Het
Maneal	G	A	4: 124,754,209 (GRCm39)	T198I	probably benign	Het
Map7d3	A	G	X: 55,867,591 (GRCm39)		probably benign	Het
Myh7	T	A	14: 55,212,188 (GRCm39)	T1519S	probably benign	Het
Myo5a	T	C	9: 75,074,518 (GRCm39)		probably benign	Het
Naip5	T	C	13: 100,358,150 (GRCm39)	S1029G	probably benign	Het
Or14j1	G	T	17: 38,146,304 (GRCm39)	C138F	probably damaging	Het
Or4c11c	A	T	2: 88,662,372 (GRCm39)	I304F	probably benign	Het
Or4g16	T	A	2: 111,136,763 (GRCm39)	V71E	probably damaging	Het
Or5d14	T	C	2: 87,880,333 (GRCm39)	T212A	possibly damaging	Het
Or5k15	T	A	16: 58,710,184 (GRCm39)	Q133L	probably benign	Het
Pald1	A	T	10: 61,182,920 (GRCm39)		probably benign	Het
Pan2	T	A	10: 128,144,944 (GRCm39)	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 94,123,720 (GRCm39)	I817V	probably benign	Het
Piezo2	A	G	18: 63,153,705 (GRCm39)	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,442,167 (GRCm39)		probably null	Het
Prdm6	T	C	18: 53,597,749 (GRCm39)		probably benign	Het
Prr5l	A	T	2: 101,602,465 (GRCm39)		probably benign	Het
Rab3gap2	T	A	1: 185,003,665 (GRCm39)	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,160,543 (GRCm39)	H669R	probably damaging	Het
Rnf150	A	T	8: 83,730,234 (GRCm39)	I255F	probably damaging	Het
Rnf17	T	A	14: 56,745,325 (GRCm39)	D1360E	probably null	Het
Sag	T	C	1: 87,756,197 (GRCm39)		probably null	Het
Scn2a	C	T	2: 65,501,947 (GRCm39)	T90I	probably benign	Het
Scn9a	T	A	2: 66,314,955 (GRCm39)		probably benign	Het
Serpinb13	T	C	1: 106,926,640 (GRCm39)	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,544,134 (GRCm39)	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,867,669 (GRCm39)		probably benign	Het
Slitrk3	A	T	3: 72,957,312 (GRCm39)	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,836,671 (GRCm39)	M279T	probably benign	Het
Tmem161b	T	C	13: 84,420,373 (GRCm39)	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,426,874 (GRCm39)		probably benign	Het
Ubxn7	T	C	16: 32,188,201 (GRCm39)	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,614,963 (GRCm39)	L209P	probably damaging	Het
Wif1	C	T	10: 120,911,181 (GRCm39)	R107C	probably damaging	Het
Ythdf2	G	T	4: 131,932,885 (GRCm39)	L92M	probably benign	Het
Zfp53	T	A	17: 21,720,512 (GRCm39)	I34N	possibly damaging	Het
Zpld2	A	G	4: 133,929,291 (GRCm39)	L338S	probably benign	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
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
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

Posted On

2015-04-16