Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02171:Wdr72'

283553

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr72

Ensembl Gene

ENSMUSG00000044976

Gene Name

WD repeat domain 72

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

IGL02171

Quality Score

Status

Chromosome

Chromosomal Location

74110356-74283308 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74210534 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 843 (M843L)

Ref Sequence

ENSEMBL: ENSMUSP00000149349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055879] [ENSMUST00000215440]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055879
AA Change: M855L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: M855L

Domain	Start	End	E-Value	Type
WD40	4	45	1.24e0	SMART
WD40	51	93	1.54e0	SMART
WD40	143	188	8.22e1	SMART
Blast:WD40	319	363	4e-19	BLAST
WD40	398	443	8.88e0	SMART
WD40	461	506	5.97e-1	SMART
WD40	509	554	9.9e0	SMART
WD40	557	596	2.12e-3	SMART
low complexity region	694	711	N/A	INTRINSIC
low complexity region	780	798	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215440
AA Change: M843L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,944,256	I772M	probably benign	Het
Abcg4	C	A	9: 44,275,009		probably benign	Het
Abo	A	G	2: 26,848,957	I18T	probably benign	Het
AI661453	C	T	17: 47,466,996		probably benign	Het
Apbb1	A	G	7: 105,559,126		probably benign	Het
Atp8a1	G	A	5: 67,738,465	S557L	probably damaging	Het
Bora	G	T	14: 99,047,322	D3Y	probably damaging	Het
Cfap46	T	C	7: 139,667,056	D323G	possibly damaging	Het
Dcdc2a	T	A	13: 25,056,434	V55E	probably damaging	Het
Dync1i1	G	T	6: 5,969,498	R441L	probably damaging	Het
Ecd	T	A	14: 20,320,827	Y608F	probably damaging	Het
Eif4g3	A	G	4: 138,126,589	T489A	probably benign	Het
Erlin1	A	G	19: 44,049,116		probably benign	Het
Fras1	A	G	5: 96,735,181	E2524G	probably benign	Het
Garem1	C	T	18: 21,129,241	D839N	probably damaging	Het
Gdap1l1	T	A	2: 163,447,550	V145E	possibly damaging	Het
Gm1966	G	T	7: 106,601,341		noncoding transcript	Het
Hydin	A	T	8: 110,451,958	K1062*	probably null	Het
Igkv4-92	T	C	6: 68,755,589	D2G	probably benign	Het
Lemd3	T	A	10: 120,933,622		probably benign	Het
Mbl1	C	T	14: 41,154,498		probably benign	Het
Mdh1	T	C	11: 21,557,438		probably benign	Het
Mms19	A	G	19: 41,957,139		probably null	Het
Nrxn3	C	A	12: 89,193,163	P20T	probably damaging	Het
Nudt1	A	G	5: 140,337,593	E100G	probably damaging	Het
Olfr1006	T	A	2: 85,674,941	D70V	probably damaging	Het
Olfr1391	T	A	11: 49,328,035	F208Y	possibly damaging	Het
Palb2	A	C	7: 122,107,586	S1083A	probably damaging	Het
Phc2	T	G	4: 128,711,065	F198C	probably damaging	Het
Pkhd1l1	A	G	15: 44,516,146	D1056G	possibly damaging	Het
Psg17	A	G	7: 18,818,787	Y188H	probably damaging	Het
Scn1a	T	A	2: 66,273,199	I1906F	probably damaging	Het
Sidt2	C	A	9: 45,952,770	R150L	possibly damaging	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Supt3	T	C	17: 45,003,156	I144T	probably damaging	Het
Trip4	A	G	9: 65,881,050	S38P	probably damaging	Het
Vmn1r173	G	T	7: 23,702,896	M185I	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Zfp595	T	A	13: 67,316,655	N518Y	possibly damaging	Het

Other mutations in Wdr72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Wdr72	APN	9	74155129	missense	probably damaging	1.00
IGL01385:Wdr72	APN	9	74179506	splice site	probably benign
IGL01512:Wdr72	APN	9	74148759	missense	probably benign	0.02
IGL01544:Wdr72	APN	9	74148725	missense	probably damaging	1.00
IGL01938:Wdr72	APN	9	74148774	missense	probably benign	0.25
IGL02090:Wdr72	APN	9	74154930	missense	possibly damaging	0.87
IGL02121:Wdr72	APN	9	74281729	utr 3 prime	probably benign
IGL02140:Wdr72	APN	9	74210223	missense	probably benign	0.40
IGL02208:Wdr72	APN	9	74157299	missense	probably damaging	1.00
IGL02936:Wdr72	APN	9	74152580	missense	probably damaging	1.00
IGL02979:Wdr72	APN	9	74179556	missense	probably damaging	1.00
IGL03263:Wdr72	APN	9	74157429	missense	probably damaging	1.00
F5770:Wdr72	UTSW	9	74157270	missense	probably damaging	0.96
R0107:Wdr72	UTSW	9	74210433	missense	probably damaging	1.00
R0332:Wdr72	UTSW	9	74157252	critical splice acceptor site	probably null
R0420:Wdr72	UTSW	9	74210757	missense	possibly damaging	0.75
R0536:Wdr72	UTSW	9	74157408	missense	probably damaging	1.00
R0565:Wdr72	UTSW	9	74217306	missense	probably benign	0.34
R0755:Wdr72	UTSW	9	74145094	missense	probably benign	0.05
R1183:Wdr72	UTSW	9	74179585	missense	probably benign	0.00
R1636:Wdr72	UTSW	9	74179625	missense	probably benign	0.00
R1668:Wdr72	UTSW	9	74210162	missense	probably damaging	0.99
R1687:Wdr72	UTSW	9	74210199	missense	probably benign	0.13
R1813:Wdr72	UTSW	9	74276016	missense	possibly damaging	0.85
R1835:Wdr72	UTSW	9	74151617	missense	probably damaging	1.00
R2036:Wdr72	UTSW	9	74151594	missense	probably damaging	1.00
R2113:Wdr72	UTSW	9	74145172	missense	probably benign	0.07
R2331:Wdr72	UTSW	9	74148326	missense	probably damaging	1.00
R2369:Wdr72	UTSW	9	74210175	missense	possibly damaging	0.77
R3973:Wdr72	UTSW	9	74218697	missense	probably benign
R4021:Wdr72	UTSW	9	74151593	missense	probably benign	0.18
R4596:Wdr72	UTSW	9	74151605	missense	probably benign	0.00
R4665:Wdr72	UTSW	9	74210024	missense	probably benign	0.10
R4694:Wdr72	UTSW	9	74179555	missense	probably damaging	1.00
R4894:Wdr72	UTSW	9	74210561	missense	probably benign	0.00
R5027:Wdr72	UTSW	9	74145976	missense	probably damaging	1.00
R5269:Wdr72	UTSW	9	74157371	missense	probably damaging	1.00
R5432:Wdr72	UTSW	9	74275946	missense	probably damaging	1.00
R5470:Wdr72	UTSW	9	74139699	nonsense	probably null
R5717:Wdr72	UTSW	9	74148205	missense	probably damaging	1.00
R5793:Wdr72	UTSW	9	74210343	missense	probably benign	0.02
R5963:Wdr72	UTSW	9	74145028	missense	probably damaging	1.00
R6108:Wdr72	UTSW	9	74151668	missense	probably damaging	0.97
R6111:Wdr72	UTSW	9	74210325	missense	probably benign	0.00
R6113:Wdr72	UTSW	9	74152641	missense	probably benign	0.02
R6245:Wdr72	UTSW	9	74148223	missense	probably damaging	1.00
R6469:Wdr72	UTSW	9	74213361	missense	probably benign	0.15
R6726:Wdr72	UTSW	9	74152540	missense	possibly damaging	0.54
R6857:Wdr72	UTSW	9	74155041	missense	probably damaging	1.00
R6916:Wdr72	UTSW	9	74155039	missense	probably benign
R6921:Wdr72	UTSW	9	74210646	missense	probably benign
R7092:Wdr72	UTSW	9	74210472	missense	probably damaging	1.00
R7104:Wdr72	UTSW	9	74148315	missense	probably damaging	1.00
R7560:Wdr72	UTSW	9	74210126	missense	probably damaging	1.00
R7684:Wdr72	UTSW	9	74147010	missense	probably damaging	1.00
R8025:Wdr72	UTSW	9	74143499	missense	probably benign	0.00
V7583:Wdr72	UTSW	9	74157270	missense	probably damaging	0.96
X0067:Wdr72	UTSW	9	74152502	missense	probably damaging	1.00
Z1177:Wdr72	UTSW	9	74210536	missense	probably damaging	0.99

Posted On

2015-04-16