Mutagenetix > Incidental Mutations

Incidental Mutation 'R3620:Wdr43'

268620

Institutional Source

Beutler Lab

Gene Symbol

Wdr43

Ensembl Gene

ENSMUSG00000041057

Gene Name

WD repeat domain 43

Synonyms

2610318G08Rik

Accession Numbers

Ncbi RefSeq: NM_175639.1; MGI:1919765

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R3620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71616215-71659031 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71650606 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 530 (T530M)

Ref Sequence

ENSEMBL: ENSMUSP00000048337 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047086
AA Change: T530M

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: T530M

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (44/44)

Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,008,032	M473T	probably benign	Het
Asxl1	C	A	2: 153,357,155	R76S	probably damaging	Het
Bhlhe41	C	A	6: 145,863,007	G360C	possibly damaging	Het
Ccdc88a	T	C	11: 29,430,227	I201T	probably benign	Het
Ccng1	T	C	11: 40,752,165	T152A	probably benign	Het
Cep192	T	C	18: 67,829,857	V648A	probably benign	Het
Cldn16	T	A	16: 26,477,552	F93I	possibly damaging	Het
Csmd1	T	C	8: 15,992,684	S2350G	probably benign	Het
Enpp6	T	C	8: 47,065,505	W223R	probably benign	Het
Fah	T	C	7: 84,588,951		probably null	Het
Fat2	A	T	11: 55,256,695	V3907D	probably damaging	Het
Fsip2	C	A	2: 82,980,258	T2307K	probably benign	Het
Gcg	T	C	2: 62,476,935	E94G	probably damaging	Het
Gramd1b	C	A	9: 40,455,546	R42L	probably benign	Het
Hdc	T	A	2: 126,616,267	Y45F	possibly damaging	Het
Hist1h2bh	C	A	13: 23,543,154	V67L	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Igsf10	T	G	3: 59,336,331	D194A	probably damaging	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Lrpprc	A	T	17: 84,770,024	C412S	probably benign	Het
Mga	T	A	2: 119,916,668	D433E	probably damaging	Het
Myo15	A	T	11: 60,478,642	S743C	possibly damaging	Het
Myo15b	T	G	11: 115,871,187	L1176R	possibly damaging	Het
Ndor1	T	C	2: 25,248,035	Q526R	probably damaging	Het
Nipbl	A	G	15: 8,333,024	I1429T	probably damaging	Het
Olfr1261	T	C	2: 89,993,852	I153T	probably damaging	Het
Olfr1282	T	A	2: 111,335,344	I245L	probably benign	Het
Olfr412	T	A	11: 74,365,224	L185Q	probably damaging	Het
Otogl	T	C	10: 107,874,371	D619G	probably damaging	Het
Pa2g4	C	G	10: 128,563,595	E67Q	probably damaging	Het
Pnpla1	C	T	17: 28,877,388	A147V	probably damaging	Het
Prdm13	A	G	4: 21,683,532	Y143H	unknown	Het
Rad23a	A	G	8: 84,840,564	M1T	probably null	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Slc10a2	A	T	8: 5,104,909	I92N	probably damaging	Het
Slc24a4	T	C	12: 102,218,963	F111L	probably damaging	Het
Sox11	T	C	12: 27,341,736	T225A	probably benign	Het
Thbs1	T	C	2: 118,121,159	V820A	probably benign	Het
Unc45a	G	T	7: 80,334,051	N332K	possibly damaging	Het
Vmn1r159	A	C	7: 22,842,833	I258S	possibly damaging	Het
Wdr31	A	T	4: 62,457,464	F251L	possibly damaging	Het
Zfp445	C	T	9: 122,852,768	A703T	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
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

Predicted Primers

PCR Primer
(F):5'- TATGGTGGAACAAATGGCCT -3'
(R):5'- GCAAATATACCAAAGAGTCCAATCTTA -3'

Sequencing Primer
(F):5'- TGGCCTGGGACATACAGTG -3'
(R):5'- CCTCCTAAGTGCTGAGGTTAAAG -3'

Posted On

2015-02-19