Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02352:Wdr43'

289520

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 #

IGL02352

Quality Score

Status

Chromosome

Chromosomal Location

71923175-71966026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71939043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 217 (T217M)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

AlphaFold

Q6ZQL4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047086
AA Change: T217M

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: T217M

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: ENSMUST00000175548

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	C	12: 72,941,829 (GRCm39)		probably null	Het
Abca5	T	A	11: 110,166,156 (GRCm39)	N1540I	probably benign	Het
Adamtsl5	T	A	10: 80,179,562 (GRCm39)		probably null	Het
Aldh2	T	C	5: 121,713,960 (GRCm39)	E128G	probably null	Het
Anln	A	G	9: 22,279,708 (GRCm39)	V494A	probably benign	Het
Ano3	A	T	2: 110,715,288 (GRCm39)	L50*	probably null	Het
Atp13a3	A	G	16: 30,169,902 (GRCm39)	I392T	probably damaging	Het
C1qtnf5	A	G	9: 44,019,631 (GRCm39)	E85G	possibly damaging	Het
Cacna1s	A	T	1: 136,020,990 (GRCm39)		probably benign	Het
Ccdc150	G	A	1: 54,311,680 (GRCm39)	R222H	probably benign	Het
Cdk5rap3	A	T	11: 96,807,003 (GRCm39)	I9N	probably damaging	Het
Cmip	A	T	8: 118,137,994 (GRCm39)		probably benign	Het
Cyp21a1	A	G	17: 35,023,196 (GRCm39)	Y60H	probably damaging	Het
Cyp2d11	A	G	15: 82,278,121 (GRCm39)	W10R	possibly damaging	Het
Dock10	A	G	1: 80,483,378 (GRCm39)	Y2076H	probably damaging	Het
Dpcd	G	T	19: 45,565,493 (GRCm39)	A156S	probably benign	Het
Egflam	T	C	15: 7,263,706 (GRCm39)	N748S	probably benign	Het
Fam227b	A	G	2: 125,988,174 (GRCm39)		probably benign	Het
Fancd2	T	A	6: 113,540,073 (GRCm39)	I654N	probably damaging	Het
Hpf1	A	G	8: 61,349,836 (GRCm39)	I155V	probably benign	Het
Hrh1	C	A	6: 114,457,404 (GRCm39)	N228K	probably benign	Het
Igkv3-2	T	C	6: 70,675,474 (GRCm39)	L8P	probably damaging	Het
Iqgap3	T	C	3: 88,009,267 (GRCm39)	F734L	probably benign	Het
Kif5a	T	C	10: 127,079,370 (GRCm39)	Y276C	probably damaging	Het
Lax1	A	T	1: 133,608,208 (GRCm39)	S178T	possibly damaging	Het
Marchf6	C	T	15: 31,509,905 (GRCm39)	C28Y	probably damaging	Het
Mylk3	T	C	8: 86,081,931 (GRCm39)	T356A	probably benign	Het
Obscn	T	C	11: 58,891,853 (GRCm39)	E6893G	probably benign	Het
Or2l13	T	C	16: 19,305,927 (GRCm39)	L113P	probably damaging	Het
Pate7	A	T	9: 35,689,180 (GRCm39)	M1K	probably null	Het
Pgap2	G	T	7: 101,885,346 (GRCm39)	V71F	probably damaging	Het
Prob1	T	G	18: 35,785,893 (GRCm39)	E787A	possibly damaging	Het
Psmd2	C	A	16: 20,475,691 (GRCm39)	D430E	probably benign	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,803 (GRCm39)		probably benign	Het
Sgsm2	G	T	11: 74,782,900 (GRCm39)		probably benign	Het
Slc38a9	A	G	13: 112,826,720 (GRCm39)	I153V	probably benign	Het
Slco1b2	T	A	6: 141,631,251 (GRCm39)	D628E	probably damaging	Het
Sult2a5	T	C	7: 13,362,727 (GRCm39)	S145P	probably benign	Het
Sv2b	T	C	7: 74,786,197 (GRCm39)	T408A	probably benign	Het
Usp24	T	C	4: 106,261,122 (GRCm39)	C1626R	probably damaging	Het
Wdr95	G	A	5: 149,504,084 (GRCm39)	V155M	probably damaging	Het
Wsb1	G	A	11: 79,141,838 (GRCm39)	L60F	probably damaging	Het
Wwp2	C	T	8: 108,267,278 (GRCm39)	R297*	probably null	Het
Xkr6	T	C	14: 64,057,156 (GRCm39)	Y356H	unknown	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
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
IGL03095:Wdr43	APN	17	71,948,282 (GRCm39)	missense	probably benign	0.28
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

2015-04-16