Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03095:Wdr43'

418545

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr43

Ensembl Gene

ENSMUSG00000041057

Gene Name

WD repeat domain 43

Synonyms

2610318G08Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL03095

Quality Score

Status

Chromosome

Chromosomal Location

71923175-71966026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71948282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 391 (V391I)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

AlphaFold

Q6ZQL4

Predicted Effect

probably benign
Transcript: ENSMUST00000047086
AA Change: V391I

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: V391I

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bche	A	G	3: 73,609,216 (GRCm39)	L70P	probably damaging	Het
Cacna1h	C	A	17: 25,602,752 (GRCm39)		probably benign	Het
Ccdc60	A	T	5: 116,284,274 (GRCm39)		probably benign	Het
Cep152	T	C	2: 125,460,371 (GRCm39)	N194D	probably benign	Het
Chodl	T	A	16: 78,738,321 (GRCm39)	D96E	probably damaging	Het
Clca3b	C	A	3: 144,552,671 (GRCm39)	G122*	probably null	Het
Crybg1	T	C	10: 43,865,245 (GRCm39)	I1411V	probably damaging	Het
Dock9	A	C	14: 121,876,940 (GRCm39)	V477G	probably damaging	Het
Fam149a	T	A	8: 45,794,265 (GRCm39)	E632D	probably damaging	Het
Gabra4	A	G	5: 71,781,358 (GRCm39)	V351A	probably damaging	Het
Gen1	T	A	12: 11,298,265 (GRCm39)	I319L	probably benign	Het
Gne	C	A	4: 44,055,211 (GRCm39)	D255Y	probably damaging	Het
Gpr146	A	G	5: 139,378,705 (GRCm39)	H169R	probably benign	Het
Htatip2	A	G	7: 49,409,522 (GRCm39)	E92G	probably benign	Het
Ipcef1	A	G	10: 6,869,732 (GRCm39)	S223P	probably damaging	Het
Kcnmb2	T	A	3: 32,252,276 (GRCm39)	*37R	probably null	Het
Lin54	A	T	5: 100,602,337 (GRCm39)	V400E	probably damaging	Het
Ltbp1	C	A	17: 75,589,413 (GRCm39)	Q511K	possibly damaging	Het
Lyg1	A	G	1: 37,989,849 (GRCm39)		probably benign	Het
Nampt	T	A	12: 32,892,685 (GRCm39)	V324D	possibly damaging	Het
Nat8b-ps	T	G	6: 85,909,950 (GRCm39)		probably benign	Het
Neb	G	A	2: 52,059,100 (GRCm39)	H213Y	probably damaging	Het
Nfkb1	T	C	3: 135,324,591 (GRCm39)	E179G	possibly damaging	Het
Nlrc5	T	A	8: 95,248,536 (GRCm39)		probably benign	Het
Or12d2	T	A	17: 37,624,664 (GRCm39)	I204F	probably benign	Het
Or8k38	A	T	2: 86,488,775 (GRCm39)	L9Q	possibly damaging	Het
Pcdh15	G	A	10: 74,191,706 (GRCm39)	V601M	probably damaging	Het
Pigc	G	A	1: 161,798,345 (GRCm39)	R109Q	possibly damaging	Het
Plxna2	A	G	1: 194,483,435 (GRCm39)	N1582S	probably damaging	Het
Pros1	C	T	16: 62,728,132 (GRCm39)	Q279*	probably null	Het
Psmb5	A	G	14: 54,854,014 (GRCm39)	S155P	probably damaging	Het
Rock2	T	A	12: 17,003,341 (GRCm39)	D393E	probably benign	Het
Slc25a21	T	C	12: 56,785,410 (GRCm39)	T156A	probably benign	Het
Slc44a1	T	A	4: 53,536,374 (GRCm39)	Y183*	probably null	Het
Sytl2	C	T	7: 90,041,642 (GRCm39)	P580L	probably damaging	Het
Tktl2	G	T	8: 66,964,936 (GRCm39)	V165F	probably damaging	Het
Trim55	A	G	3: 19,728,629 (GRCm39)	E480G	probably benign	Het
Vmn2r92	T	A	17: 18,386,972 (GRCm39)	S104T	possibly damaging	Het
Vps51	C	T	19: 6,120,078 (GRCm39)	R490H	probably damaging	Het
Zranb1	T	G	7: 132,551,635 (GRCm39)	Y121*	probably null	Het

Other mutations in Wdr43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Wdr43	APN	17	71,959,809 (GRCm39)	missense	probably damaging	1.00
IGL02077:Wdr43	APN	17	71,947,286 (GRCm39)	missense	probably benign	0.00
IGL02114:Wdr43	APN	17	71,959,843 (GRCm39)	missense	probably benign	0.00
IGL02252:Wdr43	APN	17	71,933,845 (GRCm39)	missense	probably damaging	1.00
IGL02352:Wdr43	APN	17	71,939,043 (GRCm39)	missense	possibly damaging	0.90
IGL02359:Wdr43	APN	17	71,939,043 (GRCm39)	missense	possibly damaging	0.90
IGL03082:Wdr43	APN	17	71,945,336 (GRCm39)	missense	probably damaging	0.99
IGL02837:Wdr43	UTSW	17	71,949,731 (GRCm39)	missense	probably benign	0.00
R0039:Wdr43	UTSW	17	71,960,487 (GRCm39)	nonsense	probably null
R0164:Wdr43	UTSW	17	71,938,992 (GRCm39)	splice site	probably benign
R0271:Wdr43	UTSW	17	71,933,820 (GRCm39)	missense	probably benign	0.00
R1117:Wdr43	UTSW	17	71,923,382 (GRCm39)	missense	probably benign	0.35
R1873:Wdr43	UTSW	17	71,940,647 (GRCm39)	missense	probably benign	0.05
R1973:Wdr43	UTSW	17	71,947,235 (GRCm39)	missense	probably benign	0.00
R3620:Wdr43	UTSW	17	71,957,601 (GRCm39)	missense	probably benign	0.13
R3922:Wdr43	UTSW	17	71,945,296 (GRCm39)	splice site	probably benign
R4097:Wdr43	UTSW	17	71,964,532 (GRCm39)	missense	probably benign
R5067:Wdr43	UTSW	17	71,933,849 (GRCm39)	missense	probably benign
R5282:Wdr43	UTSW	17	71,955,772 (GRCm39)	missense	probably damaging	1.00
R6251:Wdr43	UTSW	17	71,957,048 (GRCm39)	splice site	probably null
R6364:Wdr43	UTSW	17	71,964,649 (GRCm39)	missense	probably damaging	0.96
R7086:Wdr43	UTSW	17	71,923,434 (GRCm39)	missense	probably benign	0.02
R7725:Wdr43	UTSW	17	71,923,338 (GRCm39)	missense	probably benign	0.27
R8104:Wdr43	UTSW	17	71,923,350 (GRCm39)	missense	probably benign	0.01
R8901:Wdr43	UTSW	17	71,932,461 (GRCm39)	missense	probably benign	0.00
R9648:Wdr43	UTSW	17	71,960,494 (GRCm39)	missense	probably benign	0.04

Posted On

2016-08-02