Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02077:Wdr43'

185998

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr43

Ensembl Gene

ENSMUSG00000041057

Gene Name

WD repeat domain 43

Synonyms

2610318G08Rik

Accession Numbers

Ncbi RefSeq: NM_175639.1; MGI:1919765

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL02077

Quality Score

Status

Chromosome

Chromosomal Location

71616215-71659031 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71640291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 381 (A381T)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047086]

AlphaFold

Q6ZQL4

Predicted Effect

probably benign
Transcript: ENSMUST00000047086
AA Change: A381T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: A381T

Domain	Start	End	E-Value	Type
WD40	8	42	4.42e1	SMART
WD40	45	110	2.2e2	SMART
WD40	113	154	7.85e-7	SMART
WD40	157	194	1.24e-4	SMART
WD40	197	249	5.52e0	SMART
Blast:WD40	256	299	1e-18	BLAST
low complexity region	320	334	N/A	INTRINSIC
Pfam:Utp12	472	575	2.3e-23	PFAM
coiled coil region	635	663	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175146

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	G	T	2: 113,837,471	T395K	possibly damaging	Het
Dopey2	T	C	16: 93,780,760	S58P	probably damaging	Het
F5	T	A	1: 164,198,866	V1669E	probably damaging	Het
Fndc7	T	A	3: 108,883,468	T81S	probably benign	Het
Hnf4a	G	T	2: 163,562,607		probably null	Het
Il27	C	T	7: 126,594,879		probably null	Het
Lhcgr	G	A	17: 88,750,130	T311I	probably benign	Het
Mafb	A	G	2: 160,365,767	S304P	probably benign	Het
Mfrp	C	T	9: 44,105,220	T404M	probably damaging	Het
Ntpcr	T	A	8: 125,737,368	Y77*	probably null	Het
Otof	A	G	5: 30,399,235	S301P	probably damaging	Het
Prpf6	G	A	2: 181,640,664	G533R	probably damaging	Het
Prpf8	T	A	11: 75,495,809	H1041Q	probably damaging	Het
Pyurf	T	C	6: 57,689,835	I81V	probably benign	Het
Rsl1d1	A	G	16: 11,194,456		probably benign	Het
Sema6a	A	T	18: 47,283,398	D387E	possibly damaging	Het
Serpinb3a	T	G	1: 107,046,381	T267P	probably damaging	Het
Tgm7	A	T	2: 121,103,835	M192K	probably damaging	Het
Thbs1	G	T	2: 118,113,110	V70L	probably benign	Het
Thsd7b	T	A	1: 129,816,682	I769N	probably damaging	Het
Tlr9	A	G	9: 106,225,505	Y665C	possibly damaging	Het
Ttn	T	C	2: 76,770,162	D18928G	probably damaging	Het
Uggt1	A	G	1: 36,176,794	S131P	probably damaging	Het
Unc80	A	G	1: 66,525,716	N854S	possibly damaging	Het
Vps13b	A	G	15: 35,910,613	T3508A	possibly damaging	Het
Zfyve26	A	T	12: 79,276,395	M859K	possibly damaging	Het

Other mutations in Wdr43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Wdr43	APN	17	71652814	missense	probably damaging	1.00
IGL02114:Wdr43	APN	17	71652848	missense	probably benign	0.00
IGL02252:Wdr43	APN	17	71626850	missense	probably damaging	1.00
IGL02352:Wdr43	APN	17	71632048	missense	possibly damaging	0.90
IGL02359:Wdr43	APN	17	71632048	missense	possibly damaging	0.90
IGL03082:Wdr43	APN	17	71638341	missense	probably damaging	0.99
IGL03095:Wdr43	APN	17	71641287	missense	probably benign	0.28
IGL02837:Wdr43	UTSW	17	71642736	missense	probably benign	0.00
R0039:Wdr43	UTSW	17	71653492	nonsense	probably null
R0164:Wdr43	UTSW	17	71631997	splice site	probably benign
R0271:Wdr43	UTSW	17	71626825	missense	probably benign	0.00
R1117:Wdr43	UTSW	17	71616387	missense	probably benign	0.35
R1873:Wdr43	UTSW	17	71633652	missense	probably benign	0.05
R1973:Wdr43	UTSW	17	71640240	missense	probably benign	0.00
R3620:Wdr43	UTSW	17	71650606	missense	probably benign	0.13
R3922:Wdr43	UTSW	17	71638301	splice site	probably benign
R4097:Wdr43	UTSW	17	71657537	missense	probably benign
R5067:Wdr43	UTSW	17	71626854	missense	probably benign
R5282:Wdr43	UTSW	17	71648777	missense	probably damaging	1.00
R6251:Wdr43	UTSW	17	71650053	splice site	probably null
R6364:Wdr43	UTSW	17	71657654	missense	probably damaging	0.96
R7086:Wdr43	UTSW	17	71616439	missense	probably benign	0.02
R7725:Wdr43	UTSW	17	71616343	missense	probably benign	0.27
R8104:Wdr43	UTSW	17	71616355	missense	probably benign	0.01
R8901:Wdr43	UTSW	17	71625466	missense	probably benign	0.00
R9648:Wdr43	UTSW	17	71653499	missense	probably benign	0.04

Posted On

2014-05-07