Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03082:Wdr43'

417908

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

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL03082

Quality Score

Status

Chromosome

Chromosomal Location

71616215-71659031 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71638341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 315 (T315I)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

AlphaFold

Q6ZQL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000047086
AA Change: T315I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: T315I

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic1	T	A	15: 99,696,547	N324K	probably benign	Het
Atpaf2	T	C	11: 60,403,844	E251G	probably damaging	Het
Cacna1d	T	C	14: 30,099,233	K1109E	probably damaging	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Chst1	C	T	2: 92,613,933	T250I	possibly damaging	Het
Cpne6	T	C	14: 55,516,303	L406P	probably damaging	Het
Cryz	A	G	3: 154,604,926	M8V	probably damaging	Het
Dpysl2	T	C	14: 66,808,010	E438G	probably damaging	Het
Elovl1	T	C	4: 118,430,880	I71T	probably benign	Het
Eml2	T	A	7: 19,201,877	Y679N	probably damaging	Het
Fam185a	G	A	5: 21,455,838	V284I	possibly damaging	Het
Fpgs	C	T	2: 32,685,757	W391*	probably null	Het
Hdac11	C	T	6: 91,173,103	P295S	probably damaging	Het
Herc2	A	T	7: 56,185,923	I3260F	probably benign	Het
Hltf	G	A	3: 20,064,559		probably benign	Het
Immp2l	T	G	12: 41,110,901	V66G	possibly damaging	Het
Lrrc4c	T	C	2: 97,630,586	I519T	probably benign	Het
Megf8	A	G	7: 25,330,236	T402A	probably benign	Het
Mttp	T	G	3: 138,123,795	I111L	probably benign	Het
Mycbp2	T	A	14: 103,204,369	I1987F	probably benign	Het
Ncr1	T	A	7: 4,341,242		probably benign	Het
Nedd4	G	A	9: 72,677,394		probably null	Het
Nnt	A	G	13: 119,396,868	F87S	probably damaging	Het
Nol6	A	G	4: 41,115,878		probably benign	Het
Pdzd3	A	T	9: 44,250,786	S39T	possibly damaging	Het
Pkhd1	A	T	1: 20,565,633	I491N	probably damaging	Het
Plcxd2	T	C	16: 45,965,110	I311V	probably damaging	Het
Pou2f3	C	A	9: 43,146,915		probably null	Het
Rgsl1	G	A	1: 153,799,947	T836I	possibly damaging	Het
Rttn	G	A	18: 88,983,948	G328D	probably damaging	Het
Serpina11	T	C	12: 103,986,301	E77G	probably benign	Het
Slc35f1	G	A	10: 52,933,138	V74I	probably benign	Het
Slc7a6	A	G	8: 106,193,222		probably null	Het
Smco2	A	G	6: 146,860,044	T154A	possibly damaging	Het
Tcerg1	A	G	18: 42,573,357	Y1033C	probably damaging	Het
Tmem87a	A	G	2: 120,397,366	F100S	possibly damaging	Het
Tssk4	T	C	14: 55,651,061	F129S	probably 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
IGL02077:Wdr43	APN	17	71640291	missense	probably benign	0.00
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
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

Posted On

2016-08-02