Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00231:Wdr43'

2072

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: 0.966) question?

Stock #

IGL00231

Quality Score

Status

Chromosome

Chromosomal Location

71616215-71659031 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 71652814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 550 (Y550D)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

AlphaFold

Q6ZQL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000047086
AA Change: Y550D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: Y550D

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130204L05Rik	A	G	3: 91,088,358	M79T	probably benign	Het
Adamtsl1	A	G	4: 86,385,640	T1346A	probably benign	Het
Ccdc102a	T	C	8: 94,911,638		probably null	Het
Cgrrf1	T	C	14: 46,832,322	F16S	probably damaging	Het
Clybl	T	C	14: 122,379,198		probably benign	Het
Cubn	T	C	2: 13,381,849	E1535G	possibly damaging	Het
Dmrtc1b	C	A	X: 102,713,627	P226H	probably benign	Het
Dnah17	G	A	11: 118,088,214	A1784V	possibly damaging	Het
Dnajc24	A	G	2: 106,002,003	Y12H	probably damaging	Het
Drd1	T	C	13: 54,053,467	T236A	probably benign	Het
Ep400	A	T	5: 110,687,841	V1934D	unknown	Het
Flt1	A	G	5: 147,580,300		probably null	Het
Fut8	A	G	12: 77,448,488	K284R	probably benign	Het
Hcn1	A	G	13: 117,975,993	E831G	probably damaging	Het
Inpp5j	A	T	11: 3,500,009		probably benign	Het
Insig2	A	G	1: 121,305,947	Y213H	probably damaging	Het
Kcnh4	G	A	11: 100,756,995		probably benign	Het
Kifc2	T	A	15: 76,667,462		probably benign	Het
Krt75	T	C	15: 101,572,646	E231G	probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mfsd4b2	T	A	10: 39,925,061		probably benign	Het
Micall2	T	A	5: 139,717,556		probably null	Het
Olfr1123	A	G	2: 87,418,566	T173A	possibly damaging	Het
Olfr284	C	T	15: 98,340,173	S256N	possibly damaging	Het
Osbp2	C	T	11: 3,726,561	D287N	possibly damaging	Het
Plin1	A	G	7: 79,726,660		probably benign	Het
Ppl	T	C	16: 5,089,545	N962S	probably benign	Het
Psg25	C	T	7: 18,526,181		probably benign	Het
Ptprt	A	T	2: 161,810,624	D601E	probably benign	Het
Sbno2	C	A	10: 80,064,506		probably benign	Het
Sntg2	T	C	12: 30,276,721	D147G	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Stam2	T	A	2: 52,706,406	I307F	possibly damaging	Het
Tbx21	T	G	11: 97,098,923	E481A	probably damaging	Het
Tsc2	G	A	17: 24,608,107	T876I	probably damaging	Het
Wdfy4	T	C	14: 33,102,539	I1308V	possibly damaging	Het
Wdr37	C	T	13: 8,820,505	V143I	probably damaging	Het
Wnk4	A	G	11: 101,268,748	D593G	possibly damaging	Het

Other mutations in Wdr43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-12-09