Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00710:Wdr73'

14855

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr73

Ensembl Gene

ENSMUSG00000025722

Gene Name

WD repeat domain 73

Synonyms

2410008B13Rik, 1200011I23Rik

Accession Numbers

Genbank: NM_028026; MGI: 1919218

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

IGL00710

Quality Score

Status

Chromosome

Chromosomal Location

80890723-80901269 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80893663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 168 (I168S)

Ref Sequence

ENSEMBL: ENSMUSP00000026816 (fasta)

Gene Model

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

AlphaFold

Q9CWR1

Predicted Effect

probably benign
Transcript: ENSMUST00000026816
AA Change: I168S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: I168S

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: I166S

SMART Domains

Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722
AA Change: I166S

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: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Birc6	A	G	17: 74,609,089	T1667A	probably benign	Het
Ext1	T	C	15: 53,344,873	D164G	probably damaging	Het
Myo9a	A	G	9: 59,875,311	Y1754C	probably damaging	Het
Ptpn6	A	T	6: 124,732,356		probably null	Het
Sema6d	A	G	2: 124,662,288	K617R	probably benign	Het
Ugt2b34	T	C	5: 86,906,589	Y111C	probably damaging	Het

Other mutations in Wdr73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7182:Wdr73	UTSW	7	80893678	missense	possibly damaging	0.45
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

Posted On

2012-12-06