Mutagenetix > Incidental Mutations

Incidental Mutation 'R0271:Wdr43'

35333

Institutional Source

Beutler Lab

Gene Symbol

Wdr43

Ensembl Gene

ENSMUSG00000041057

Gene Name

WD repeat domain 43

Synonyms

2610318G08Rik

MMRRC Submission

038497-MU

Accession Numbers

Ncbi RefSeq: NM_175639.1; MGI:1919765

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0271 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

71616215-71659031 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71626825 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 139 (D139G)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

AlphaFold

Q6ZQL4

Predicted Effect

probably benign
Transcript: ENSMUST00000047086
AA Change: D139G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: D139G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (65/65)

Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	T	C	3: 88,686,329		probably benign	Het
4930544D05Rik	A	G	11: 70,616,648	Q173R	possibly damaging	Het
Ampd2	C	T	3: 108,086,716		probably benign	Het
Ankrd17	T	C	5: 90,254,799	S1467G	possibly damaging	Het
Arhgap31	T	G	16: 38,602,510	S1065R	possibly damaging	Het
Arhgef19	G	T	4: 141,250,607	M542I	probably benign	Het
C7	T	C	15: 5,015,380	D392G	possibly damaging	Het
Ccdc138	G	A	10: 58,575,823	C671Y	probably damaging	Het
Cdh8	A	G	8: 99,111,715	S498P	possibly damaging	Het
Cpb2	T	A	14: 75,257,709		probably null	Het
Cwc22	A	C	2: 77,920,858	N389K	probably benign	Het
Dgkb	T	A	12: 38,228,026	L550Q	probably damaging	Het
Dip2c	A	G	13: 9,615,775	R950G	probably damaging	Het
Eml6	A	G	11: 29,848,949	V437A	possibly damaging	Het
Fanca	T	C	8: 123,272,441		probably benign	Het
Fgd2	C	G	17: 29,367,008	L189V	possibly damaging	Het
Foxred2	A	C	15: 77,943,390	S590A	possibly damaging	Het
Gm1110	A	G	9: 26,920,666	F63S	probably damaging	Het
Gm14496	A	T	2: 181,995,954	M274L	probably benign	Het
Gm7008	T	A	12: 40,223,560		probably benign	Het
Gm9922	T	A	14: 101,729,553		probably benign	Het
Gtf3c3	A	T	1: 54,428,812	M222K	possibly damaging	Het
Hspa1b	A	G	17: 34,958,832	V59A	probably benign	Het
Impg1	T	C	9: 80,386,879		probably benign	Het
Lpcat4	T	A	2: 112,243,245		probably null	Het
Mipol1	T	C	12: 57,460,954		probably benign	Het
Mrpl37	C	A	4: 107,066,461	R112L	possibly damaging	Het
Myo18b	T	C	5: 112,809,685	N1471D	possibly damaging	Het
Nes	G	A	3: 87,978,642	E1359K	possibly damaging	Het
Nipbl	A	T	15: 8,361,737	V251E	possibly damaging	Het
Nlrp1b	T	C	11: 71,161,765	I946V	possibly damaging	Het
Obscn	T	G	11: 59,056,742		probably benign	Het
Olfr1024	A	T	2: 85,904,289	M255K	possibly damaging	Het
Olfr1239	T	A	2: 89,418,158	Y85F	probably benign	Het
Olfr1491	A	T	19: 13,705,135	T103S	probably benign	Het
Olfr635	T	A	7: 103,979,630	I146K	possibly damaging	Het
Pck2	T	C	14: 55,544,584		probably null	Het
Pcsk9	A	G	4: 106,449,049		probably benign	Het
Phyhd1	A	T	2: 30,269,822	Q56L	probably benign	Het
Plxnc1	C	T	10: 94,837,918	G1001S	probably null	Het
Prss52	T	C	14: 64,113,678	V304A	probably benign	Het
Prss55	C	T	14: 64,075,607	G276D	probably benign	Het
Pzp	A	T	6: 128,519,514	Y252N	probably damaging	Het
Rad1	T	C	15: 10,490,457		probably null	Het
Ripply3	A	T	16: 94,335,757	E92D	possibly damaging	Het
Rpp30	T	A	19: 36,104,403	D255E	probably benign	Het
Rsad1	T	C	11: 94,548,464		probably benign	Het
Serpini2	A	G	3: 75,246,578	M358T	probably damaging	Het
Slc35a1	T	A	4: 34,664,125	E331V	probably benign	Het
Slc38a7	A	G	8: 95,845,878	F179L	probably damaging	Het
Stmn4	C	T	14: 66,356,283	Q42*	probably null	Het
Sytl2	T	C	7: 90,403,020		probably benign	Het
Tab2	G	A	10: 7,919,158	A520V	probably benign	Het
Tcp10a	A	G	17: 7,331,156	I162M	probably benign	Het
Tmprss13	A	G	9: 45,333,688		probably benign	Het
Tnfrsf14	A	G	4: 154,926,597		probably null	Het
Tpx2	A	G	2: 152,867,367		probably benign	Het
Vmn2r105	T	A	17: 20,234,703	N57I	probably damaging	Het
Wars	C	T	12: 108,875,193	V220I	probably benign	Het
Washc1	T	A	17: 66,116,719	D212E	possibly damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zfp235	A	T	7: 24,137,131	H34L	possibly damaging	Het
Zkscan16	G	A	4: 58,952,391	V230I	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTAGGCCAGTCCCTGTCTGATAAAG -3'
(R):5'- AGCCCGAATGTCCAATTCGACTC -3'

Sequencing Primer
(F):5'- CAGTCCCTGTCTGATAAAGAAGTCTG -3'
(R):5'- CAATTCGACTCAAAGTTCCTGG -3'

Posted On

2013-05-09