Mutagenetix > Incidental Mutation

Incidental Mutation 'R1973:Wdr43'

221323

Institutional Source

Beutler Lab

Gene Symbol

Wdr43

Ensembl Gene

ENSMUSG00000041057

Gene Name

WD repeat domain 43

Synonyms

2610318G08Rik

MMRRC Submission

039986-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71923175-71966026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71947235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 364 (N364D)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

AlphaFold

Q6ZQL4

Predicted Effect

probably benign
Transcript: ENSMUST00000047086
AA Change: N364D

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

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: N364D

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	C	5: 8,862,746 (GRCm39)	I143L	probably benign	Het
Acp7	T	A	7: 28,307,414 (GRCm39)	D481V	probably damaging	Het
AI597479	T	A	1: 43,150,286 (GRCm39)	I132K	probably benign	Het
Anxa13	T	C	15: 58,228,030 (GRCm39)		noncoding transcript	Het
Brca1	A	T	11: 101,417,229 (GRCm39)	C302S	probably benign	Het
Brd8	T	A	18: 34,741,066 (GRCm39)	D420V	probably damaging	Het
Cacna1g	A	T	11: 94,350,603 (GRCm39)	V414E	possibly damaging	Het
Ccdc142	T	A	6: 83,079,544 (GRCm39)	C294S	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chat	C	T	14: 32,146,148 (GRCm39)	V342I	probably benign	Het
Chd6	A	G	2: 160,808,307 (GRCm39)	S1636P	probably damaging	Het
Clec4a1	A	G	6: 122,901,793 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,731,897 (GRCm39)	I1452N	probably damaging	Het
Dennd2c	T	C	3: 103,039,014 (GRCm39)	V54A	probably benign	Het
Dnah1	C	T	14: 30,987,348 (GRCm39)	W3550*	probably null	Het
Efl1	T	C	7: 82,412,085 (GRCm39)	S825P	probably damaging	Het
Entrep2	A	T	7: 64,425,516 (GRCm39)	I192N	possibly damaging	Het
Faxc	G	A	4: 21,993,405 (GRCm39)	E350K	probably benign	Het
Frem2	T	A	3: 53,559,653 (GRCm39)	Y1618F	probably benign	Het
Fubp3	A	G	2: 31,493,298 (GRCm39)	T6A	probably benign	Het
Gm5814	A	T	17: 47,721,474 (GRCm39)	M63L	probably benign	Het
Gpr149	T	C	3: 62,438,216 (GRCm39)	K647R	probably benign	Het
Iqgap3	T	A	3: 87,991,235 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,281 (GRCm39)	V359A	probably damaging	Het
Kit	G	A	5: 75,776,102 (GRCm39)	A295T	probably damaging	Het
Krt77	G	T	15: 101,769,679 (GRCm39)	A397E	probably damaging	Het
Mis18bp1	G	C	12: 65,195,850 (GRCm39)	S638*	probably null	Het
Neurl4	C	T	11: 69,800,118 (GRCm39)	P1091S	probably benign	Het
Nod2	A	T	8: 89,379,501 (GRCm39)	M8L	probably damaging	Het
Nos1	A	G	5: 118,074,491 (GRCm39)	T1046A	possibly damaging	Het
Nsfl1c	G	T	2: 151,347,334 (GRCm39)	S202I	probably damaging	Het
Nuak2	A	T	1: 132,258,340 (GRCm39)	H257L	probably damaging	Het
Nwd1	T	C	8: 73,431,590 (GRCm39)	V1195A	possibly damaging	Het
Or10k2	T	C	8: 84,268,421 (GRCm39)	V216A	probably benign	Het
Or2ag12	T	C	7: 106,277,426 (GRCm39)	D89G	probably benign	Het
Or52a20	T	A	7: 103,365,804 (GRCm39)	M1K	probably null	Het
Or8b40	T	A	9: 38,027,863 (GRCm39)	M257K	possibly damaging	Het
Or8g51	A	G	9: 38,609,164 (GRCm39)	V170A	probably damaging	Het
Pclo	G	T	5: 14,726,073 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,906,629 (GRCm39)	D664G	probably damaging	Het
Prl8a1	G	A	13: 27,760,917 (GRCm39)	T105I	probably benign	Het
Ptger1	C	A	8: 84,396,083 (GRCm39)	T380K	probably benign	Het
Ptk7	G	A	17: 46,897,733 (GRCm39)	Q282*	probably null	Het
Ptpn18	G	T	1: 34,502,190 (GRCm39)	D45Y	probably damaging	Het
Rab11fip3	T	C	17: 26,243,365 (GRCm39)	D589G	probably damaging	Het
Rara	A	G	11: 98,862,496 (GRCm39)	N299S	possibly damaging	Het
Rpl13a	T	A	7: 44,775,419 (GRCm39)	K368*	probably null	Het
Rslcan18	T	C	13: 67,256,087 (GRCm39)		probably benign	Het
Rtel1	A	G	2: 180,993,419 (GRCm39)	Y731C	probably benign	Het
Sec16a	A	T	2: 26,316,501 (GRCm39)	S1666R	probably damaging	Het
Sis	A	G	3: 72,828,337 (GRCm39)	F1217S	probably damaging	Het
Slc10a7	T	A	8: 79,423,962 (GRCm39)		probably null	Het
Slc22a7	A	G	17: 46,748,016 (GRCm39)	V214A	probably damaging	Het
Slc26a8	T	C	17: 28,882,579 (GRCm39)	I249V	probably benign	Het
Slc38a4	T	C	15: 96,897,478 (GRCm39)	K446E	probably benign	Het
Sned1	G	A	1: 93,192,795 (GRCm39)	G361S	probably damaging	Het
Spef2	T	G	15: 9,663,152 (GRCm39)	*876C	probably null	Het
Spink11	A	G	18: 44,329,205 (GRCm39)	C14R	unknown	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tnfaip3	T	C	10: 18,880,252 (GRCm39)	N605S	probably damaging	Het
Trpc1	A	G	9: 95,605,308 (GRCm39)	M283T	probably benign	Het
Ttn	A	G	2: 76,544,706 (GRCm39)	S32799P	probably damaging	Het
Ttn	A	G	2: 76,550,443 (GRCm39)	I31613T	probably damaging	Het
Ugt1a10	A	T	1: 87,983,769 (GRCm39)	Y189F	probably damaging	Het
Usp32	G	T	11: 84,994,757 (GRCm39)	L52I	probably benign	Het
Usp33	A	G	3: 152,065,923 (GRCm39)	T68A	possibly damaging	Het
Vmn1r7	A	G	6: 57,002,011 (GRCm39)	F83S	probably benign	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Vps26c	T	C	16: 94,302,405 (GRCm39)	N267S	probably damaging	Het
Zdbf2	C	A	1: 63,348,860 (GRCm39)	P2413Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGTGGCCCATAAACAAGG -3'
(R):5'- CAAGCTATCTCAGAGGACAGG -3'

Sequencing Primer
(F):5'- CCCATAAACAAGGAAGAGCATGCTG -3'
(R):5'- TTCATCAACTCAATCTCACACGG -3'

Posted On

2014-08-25