Mutagenetix > Incidental Mutations

Incidental Mutation 'R7725:Wdr43'

595468

Institutional Source

Beutler Lab

Gene Symbol

Wdr43

Ensembl Gene

ENSMUSG00000041057

Gene Name

WD repeat domain 43

Synonyms

2610318G08Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_175639.1; MGI:1919765

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7725 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71616215-71659031 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71616343 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 28 (Y28C)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047086
AA Change: Y28C

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: Y28C

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (41/41)

Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,608,499	N164K	probably benign	Het
Anxa2	A	T	9: 69,480,128	K6N	unknown	Het
Arhgap20	T	A	9: 51,831,750	M296K	possibly damaging	Het
Bdh1	G	A	16: 31,438,092	V20I	not run	Het
Bop1	A	G	15: 76,455,383	I254T	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Ccdc114	T	A	7: 45,948,411	S582T	probably damaging	Het
Cct4	A	G	11: 22,990,814	K21E	probably benign	Het
Cercam	G	A	2: 29,872,562		probably null	Het
Clip2	A	T	5: 134,517,999	Y238*	probably null	Het
Col19a1	A	T	1: 24,270,444	S1043T	possibly damaging	Het
Ctcf	A	G	8: 105,663,836	Y25C	probably damaging	Het
Dennd4c	C	T	4: 86,786,093	R282C	probably benign	Het
Eef1g	T	A	19: 8,978,063	H425Q	probably benign	Het
Fam131b	C	T	6: 42,318,542	A234T	probably benign	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam187b	A	G	7: 30,977,714	D216G	possibly damaging	Het
Fam35a	T	G	14: 34,268,704	T82P	possibly damaging	Het
Gabra1	A	T	11: 42,135,443	Y341N	possibly damaging	Het
Glb1l3	T	A	9: 26,828,363		probably null	Het
Gm14124	A	G	2: 150,268,548	Y386C	unknown	Het
Gm3667	T	A	14: 6,874,268	Q52L	probably damaging	Het
Gpr179	C	T	11: 97,351,292	R242H	probably damaging	Het
Gulo	T	C	14: 66,008,073	Y24C	probably damaging	Het
Hectd4	A	T	5: 121,220,617	E49V	unknown	Het
Htra4	A	G	8: 25,037,153	S209P	possibly damaging	Het
Lmntd1	A	G	6: 145,543,470	S22P	probably benign	Het
Med12l	A	G	3: 59,255,992	K1347E	probably damaging	Het
Mrc1	C	A	2: 14,279,977	D592E	probably benign	Het
Muc15	A	G	2: 110,731,798	D193G	probably damaging	Het
Ncor2	A	G	5: 125,023,566	V1316A		Het
Olfr1101	T	C	2: 86,988,979	I66V	probably benign	Het
Olfr1380	A	T	11: 49,564,532	I204L	probably benign	Het
Olfr224	A	G	11: 58,566,767	Y193H	probably damaging	Het
Serpina6	A	T	12: 103,648,677	Y303*	probably null	Het
Shroom3	T	C	5: 92,941,653	L754P	probably benign	Het
Skint5	C	A	4: 113,827,902	L539F	unknown	Het
St3gal4	C	A	9: 35,053,079	R209L	possibly damaging	Het
Tex14	A	C	11: 87,495,042	T243P	probably damaging	Het
Ttc12	T	A	9: 49,440,302	M632L	probably benign	Het
Ttn	T	C	2: 76,907,772	E4187G	unknown	Het
Txk	G	A	5: 72,707,557	A379V	probably damaging	Het
Zfp40	A	G	17: 23,178,277	V82A	probably benign	Het
Zfp994	A	T	17: 22,200,110	N619K	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
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
R8104:Wdr43	UTSW	17	71616355	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCACGACCAGCCACTTCTTG -3'
(R):5'- GAGGCTTCGATGAACATGGC -3'

Sequencing Primer
(F):5'- ACTTCTTGGGCTCTCAGCG -3'
(R):5'- ATGAACATGGCGGCCCAG -3'

Posted On

2019-11-12