Mutagenetix > Incidental Mutation

Incidental Mutation 'R5282:Wdr43'

402840

Institutional Source

Beutler Lab

Gene Symbol

Wdr43

Ensembl Gene

ENSMUSG00000041057

Gene Name

WD repeat domain 43

Synonyms

2610318G08Rik

MMRRC Submission

042867-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R5282 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71923175-71966026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71955772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 479 (V479E)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

AlphaFold

Q6ZQL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000047086
AA Change: V479E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: V479E

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,439 (GRCm39)	M1K	probably null	Het
2810021J22Rik	T	C	11: 58,771,166 (GRCm39)	L216S	possibly damaging	Het
4933405O20Rik	G	A	7: 50,249,220 (GRCm39)	E85K	possibly damaging	Het
Agrn	A	G	4: 156,257,492 (GRCm39)	F1153L	probably damaging	Het
Cbx8	A	G	11: 118,929,742 (GRCm39)	S284P	probably damaging	Het
Cep128	A	G	12: 91,305,893 (GRCm39)	L170P	probably damaging	Het
Cyp4f14	T	A	17: 33,126,959 (GRCm39)	T324S	probably damaging	Het
Daw1	G	T	1: 83,170,419 (GRCm39)	V244L	probably benign	Het
Eef2kmt	A	G	16: 5,063,222 (GRCm39)	V306A	probably benign	Het
Enah	A	T	1: 181,763,293 (GRCm39)		probably null	Het
Fam171b	T	C	2: 83,683,949 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,808,925 (GRCm39)	T1748I	possibly damaging	Het
Gabrg2	C	T	11: 41,862,559 (GRCm39)	G175D	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hmcn1	G	T	1: 150,458,047 (GRCm39)	N33K	probably damaging	Het
Incenp	T	A	19: 9,855,770 (GRCm39)	E514V	unknown	Het
Kank3	T	C	17: 34,036,917 (GRCm39)	S74P	probably benign	Het
Lrriq1	G	T	10: 103,051,206 (GRCm39)	N515K	probably benign	Het
Mfsd13b	G	A	7: 120,591,056 (GRCm39)	D266N	probably damaging	Het
Neto1	T	C	18: 86,422,998 (GRCm39)	Y152H	probably damaging	Het
Nub1	C	A	5: 24,900,533 (GRCm39)	F145L	probably benign	Het
Nufip1	T	C	14: 76,351,715 (GRCm39)		probably null	Het
Pard6g	T	A	18: 80,123,116 (GRCm39)	V50E	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Rapgef5	A	C	12: 117,703,379 (GRCm39)	N431T	probably damaging	Het
Rassf9	A	T	10: 102,381,205 (GRCm39)	T196S	probably damaging	Het
Rrp12	T	C	19: 41,865,029 (GRCm39)	Y764C	probably benign	Het
Slfn8	T	C	11: 82,908,550 (GRCm39)		probably null	Het
Smox	T	A	2: 131,363,026 (GRCm39)	V265D	probably damaging	Het
Sult1b1	T	C	5: 87,678,510 (GRCm39)	I105V	probably benign	Het
Sycp2	T	C	2: 178,045,554 (GRCm39)	D22G	probably damaging	Het
Tbck	G	A	3: 132,456,977 (GRCm39)	M630I	possibly damaging	Het
Tenm4	G	C	7: 96,486,538 (GRCm39)	G965R	possibly damaging	Het
Trappc10	G	A	10: 78,023,694 (GRCm39)	T1258I	probably damaging	Het
Tssk1	G	A	16: 17,713,123 (GRCm39)	G303S	probably benign	Het
Tstd2	T	C	4: 46,120,461 (GRCm39)	Y313C	probably damaging	Het
Usp42	G	A	5: 143,707,401 (GRCm39)	T260M	probably damaging	Het
Xpo7	G	A	14: 70,921,171 (GRCm39)	T599I	probably damaging	Het
Zfp553	A	G	7: 126,836,013 (GRCm39)	K523E	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AACAAGTGTCTAGAGACCGAC -3'
(R):5'- ACAGTGGGACTAAAGCACAC -3'

Sequencing Primer
(F):5'- CAAGTGTCTAGAGACCGACGTTTTG -3'
(R):5'- GCACACAGGATTAAGAGTACTCC -3'

Posted On

2016-07-22