Mutagenetix > Incidental Mutation

Incidental Mutation 'R4097:Wdr43'

317189

Institutional Source

Beutler Lab

Gene Symbol

Wdr43

Ensembl Gene

ENSMUSG00000041057

Gene Name

WD repeat domain 43

Synonyms

2610318G08Rik

MMRRC Submission

040984-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71923175-71966026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71964532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 637 (N637S)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

AlphaFold

Q6ZQL4

Predicted Effect

probably benign
Transcript: ENSMUST00000047086
AA Change: N637S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: N637S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 96.1%

Validation Efficiency

100% (48/48)

Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	A	G	10: 83,348,228 (GRCm39)	F292L	probably damaging	Het
Ankrd36	A	G	11: 5,578,703 (GRCm39)	D664G	possibly damaging	Het
Bbs1	T	A	19: 4,947,345 (GRCm39)	Y358F	probably damaging	Het
Becn1	C	T	11: 101,185,092 (GRCm39)		probably benign	Het
Cenpp	A	T	13: 49,647,265 (GRCm39)	N47I	possibly damaging	Het
Clec4n	A	T	6: 123,207,700 (GRCm39)	H55L	possibly damaging	Het
Cntnap4	A	G	8: 113,478,939 (GRCm39)	I222V	probably benign	Het
Cttnbp2	T	C	6: 18,420,871 (GRCm39)	E370G	probably benign	Het
Cyp4a10	T	A	4: 115,386,480 (GRCm39)	V413E	probably damaging	Het
Dctn2	C	T	10: 127,113,362 (GRCm39)	L249F	probably damaging	Het
Dnah9	T	C	11: 65,881,285 (GRCm39)	S146G	probably damaging	Het
Dzip3	A	T	16: 48,778,852 (GRCm39)	L315*	probably null	Het
Evpl	T	C	11: 116,114,003 (GRCm39)	E1229G	possibly damaging	Het
Ice2	T	C	9: 69,328,953 (GRCm39)	V775A	possibly damaging	Het
Jmjd1c	A	G	10: 67,054,787 (GRCm39)	E69G	probably benign	Het
Lrrc66	T	A	5: 73,765,047 (GRCm39)	R665S	possibly damaging	Het
Mpdz	T	A	4: 81,253,937 (GRCm39)	H1065L	probably damaging	Het
Nrf1	C	T	6: 30,151,671 (GRCm39)	Q503*	probably null	Het
Nt5dc3	G	A	10: 86,669,820 (GRCm39)	A472T	probably benign	Het
Oprk1	T	A	1: 5,673,034 (GRCm39)		probably benign	Het
Or7g17	T	C	9: 18,767,933 (GRCm39)	I4T	probably benign	Het
Or9g3	T	C	2: 85,590,040 (GRCm39)	I227V	possibly damaging	Het
Pramel6	T	G	2: 87,339,697 (GRCm39)	F154V	probably benign	Het
Ralb	T	C	1: 119,411,228 (GRCm39)	D37G	probably benign	Het
Ranbp9	A	T	13: 43,574,733 (GRCm39)	Y412N	probably damaging	Het
Scg2	T	A	1: 79,413,538 (GRCm39)	D395V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpine3	T	A	14: 62,908,395 (GRCm39)	L141Q	probably damaging	Het
Sgpl1	C	T	10: 60,939,017 (GRCm39)	G394D	probably damaging	Het
Sh3pxd2a	T	C	19: 47,412,951 (GRCm39)	Y44C	probably damaging	Het
Slc6a20b	A	G	9: 123,441,822 (GRCm39)		probably benign	Het
Snapc5	T	C	9: 64,087,809 (GRCm39)	I40T	probably damaging	Het
Spopl	T	C	2: 23,401,413 (GRCm39)	H365R	probably benign	Het
Stil	T	A	4: 114,880,797 (GRCm39)	I447N	probably benign	Het
Taf3	C	A	2: 9,957,178 (GRCm39)	V330F	possibly damaging	Het
Tgoln1	T	C	6: 72,592,784 (GRCm39)	E232G	probably damaging	Het
Thrap3	A	G	4: 126,065,595 (GRCm39)	L729P	probably damaging	Het
Tmem269	A	T	4: 119,062,977 (GRCm39)	F220Y	probably damaging	Het
Tnrc18	ATCTTCC	A	5: 142,759,561 (GRCm39)		probably benign	Het
Ubxn6	T	C	17: 56,376,712 (GRCm39)	T227A	probably benign	Het
Wdr17	C	A	8: 55,088,504 (GRCm39)	R1182I	probably damaging	Het
Wdr26	T	C	1: 181,010,352 (GRCm39)	I550V	probably benign	Het
Zfp516	A	G	18: 83,005,381 (GRCm39)	T762A	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GTCTGACGATGAGGTTCCAG -3'
(R):5'- TGGAAGCATATGGTGGCCTC -3'

Sequencing Primer
(F):5'- TCCAGAGAAGGATTCTGATGTG -3'
(R):5'- CTCCCTGGGAGGATGCTATAG -3'

Posted On

2015-05-15