Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02837:Wdr43'

391941

Institutional Source

Beutler Lab

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 #

IGL02837 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

71616215-71659031 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71642736 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 445 (D445G)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047086
AA Change: D445G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: D445G

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

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (56/57)

Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 35,957,581	V786I	probably benign	Het
Adamts13	A	G	2: 26,991,420	N803S	probably benign	Het
Ago4	C	G	4: 126,497,300	G730R	possibly damaging	Het
Amn	T	A	12: 111,271,899	M55K	possibly damaging	Het
Apob	A	T	12: 8,005,102	Y1334F	probably damaging	Het
Arl14ep	A	C	2: 106,969,229	L89R	probably damaging	Het
Bcam	T	G	7: 19,764,186	E304A	probably damaging	Het
Car10	A	T	11: 93,597,251	Y258F	probably damaging	Het
Cerk	T	A	15: 86,144,695	K82*	probably null	Het
Chac2	T	C	11: 30,977,496	N141S	probably damaging	Het
Clpx	T	G	9: 65,324,259	L556R	probably damaging	Het
Csgalnact2	T	C	6: 118,124,403	I55V	probably benign	Het
Cul1	T	C	6: 47,523,205	V650A	probably benign	Het
Dnah5	A	T	15: 28,269,400	E895D	probably benign	Het
Dnah9	T	C	11: 65,874,196	K3841E	probably damaging	Het
Dpys	A	G	15: 39,857,305	S20P	probably damaging	Het
Fat1	G	A	8: 45,017,434	V1490I	probably benign	Het
Flg2	T	G	3: 93,201,737	C357W	probably damaging	Het
Flt1	T	A	5: 147,655,170	D494V	probably benign	Het
Fpr-rs4	T	A	17: 18,022,251	D173E	probably benign	Het
Gm2666	G	T	1: 85,485,103		noncoding transcript	Het
Gm3867	C	A	9: 36,257,800		noncoding transcript	Het
Gm5436	A	T	12: 84,258,600		noncoding transcript	Het
Kit	G	A	5: 75,639,008	V467I	probably benign	Het
Krtap4-16	A	G	11: 99,851,037	V179A	unknown	Het
Lrp8	C	A	4: 107,861,281	H693Q	probably benign	Het
Lrrc49	A	G	9: 60,610,322	S75P	probably benign	Het
Ltbp4	C	A	7: 27,314,381	V1068L	probably damaging	Het
Magel2	C	T	7: 62,378,260	P304L	possibly damaging	Het
Muc19	T	A	15: 91,882,656		noncoding transcript	Het
Npas3	T	C	12: 53,947,197	V175A	possibly damaging	Het
Nr1h4	A	T	10: 89,516,480	H8Q	probably benign	Het
Ntsr2	G	A	12: 16,653,875	V126M	probably damaging	Het
Odf2	A	T	2: 29,926,713	T725S	probably damaging	Het
Olfr12	T	C	1: 92,620,682	Y259H	possibly damaging	Het
Olfr183	C	T	16: 59,000,546	P287L	probably damaging	Het
Olfr603	C	T	7: 103,383,615	C129Y	probably damaging	Het
Pgr	T	C	9: 8,946,638		probably benign	Het
Pik3c2g	T	A	6: 139,626,564	C249*	probably null	Het
Plcd3	C	T	11: 103,071,103	V726M	possibly damaging	Het
Prl8a1	A	G	13: 27,575,634	L140P	probably damaging	Het
Prpf6	C	A	2: 181,622,263	D239E	probably damaging	Het
Rcc1	C	T	4: 132,337,756	R139H	probably benign	Het
Rimbp2	G	T	5: 128,797,745	Q268K	probably damaging	Het
Rps19-ps13	A	T	18: 40,726,394		noncoding transcript	Het
Sema4c	C	A	1: 36,552,884	G266V	probably damaging	Het
Sema4g	T	C	19: 44,996,711	F156S	probably damaging	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Speer4f1	G	T	5: 17,480,383	L225F	unknown	Het
Thrap3	T	C	4: 126,165,364		probably benign	Het
Tnfrsf8	T	C	4: 145,268,998	E497G	probably benign	Het
Trim3	T	C	7: 105,612,656	N631S	probably damaging	Het
Trim45	C	T	3: 100,931,627		probably benign	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
IGL03082:Wdr43	APN	17	71638341	missense	probably damaging	0.99
IGL03095:Wdr43	APN	17	71641287	missense	probably benign	0.28
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

Predicted Primers

PCR Primer
(F):5'- GGAACTATTGTCACTTTCCTTGCAC -3'
(R):5'- CCATGGTAGGTTGGTGACTGAC -3'

Sequencing Primer
(F):5'- CCTTGCACAGTACTGTTGTGG -3'
(R):5'- GGTGACTGACTGTATATTACCACC -3'

Posted On

2016-06-08