Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00838:Wdr72'

14854

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr72

Ensembl Gene

ENSMUSG00000044976

Gene Name

WD repeat domain 72

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

IGL00838

Quality Score

Status

Chromosome

Chromosomal Location

74110356-74283308 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74155129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 519 (E519V)

Ref Sequence

ENSEMBL: ENSMUSP00000149349 (fasta)

Gene Model

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

AlphaFold

D3YYM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000055879
AA Change: E531V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: E531V

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

probably damaging
Transcript: ENSMUST00000215440
AA Change: E519V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano7	C	A	1: 93,402,757	N834K	possibly damaging	Het
Armc10	T	A	5: 21,661,581	V281E	probably damaging	Het
Baat	A	T	4: 49,490,352	M244K	probably damaging	Het
Cryz	T	A	3: 154,618,475	C166S	probably damaging	Het
D430041D05Rik	T	A	2: 104,201,303	K1649N	probably damaging	Het
Dennd5b	T	C	6: 149,005,363		probably benign	Het
Dock8	A	T	19: 25,175,459	R1630*	probably null	Het
Gstm5	A	G	3: 107,897,558	N122S	probably benign	Het
Klra5	C	A	6: 129,911,359	G35C	possibly damaging	Het
Klrb1f	G	A	6: 129,054,316	V159I	possibly damaging	Het
Mgl2	A	T	11: 70,134,212	M14L	probably benign	Het
Mob1a	C	T	6: 83,338,331	R78C	possibly damaging	Het
Pigo	C	T	4: 43,021,767	A392T	possibly damaging	Het
Polr3a	A	T	14: 24,475,863	N436K	probably benign	Het
Prokr1	T	C	6: 87,588,693	T57A	possibly damaging	Het
Ror1	T	G	4: 100,333,743	V99G	probably damaging	Het
Ryr2	A	T	13: 11,568,503	I4755N	probably damaging	Het
Senp5	T	C	16: 31,989,173	D394G	probably damaging	Het
Speg	A	G	1: 75,410,390	I1318V	possibly damaging	Het
Syt6	T	A	3: 103,625,626	M357K	probably damaging	Het
Tex11	A	T	X: 100,972,118	I328N	possibly damaging	Het
Ttc37	T	C	13: 76,134,791	L744P	probably damaging	Het
Vnn1	T	C	10: 23,900,779	F343L	possibly damaging	Het

Other mutations in Wdr72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02171:Wdr72	APN	9	74210534	missense	possibly damaging	0.94
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
Arresting	UTSW	9	74179501	splice site	probably benign
R0332_Wdr72_931	UTSW	9	74157252	critical splice acceptor site	probably null
R2036_Wdr72_658	UTSW	9	74151594	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
R8035:Wdr72	UTSW	9	74179501	splice site	probably benign
R8079:Wdr72	UTSW	9	74218772	missense	probably damaging	0.99
R8142:Wdr72	UTSW	9	74139667	missense	probably damaging	1.00
R8166:Wdr72	UTSW	9	74213328	missense	probably benign
R8266:Wdr72	UTSW	9	74143492	missense	probably damaging	1.00
R8465:Wdr72	UTSW	9	74152448	missense	possibly damaging	0.93
R8968:Wdr72	UTSW	9	74152447	missense	probably benign	0.31
R9074:Wdr72	UTSW	9	74218620	missense	possibly damaging	0.86
R9336:Wdr72	UTSW	9	74210010	missense	probably damaging	1.00
R9643:Wdr72	UTSW	9	74210759	missense	probably damaging	1.00
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

2012-12-06