Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02208:Wdr72'

284582

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: 0.119) question?

Stock #

IGL02208

Quality Score

Status

Chromosome

Chromosomal Location

74017608-74190485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74064581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 538 (V538M)

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: V550M

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

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: V550M

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: V538M

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,950,772 (GRCm39)	Y898H	probably damaging	Het
Abr	T	C	11: 76,346,471 (GRCm39)	T484A	probably damaging	Het
Ahsg	G	A	16: 22,711,060 (GRCm39)	V66I	possibly damaging	Het
Arhgef5	T	G	6: 43,252,064 (GRCm39)	D938E	probably benign	Het
Asap1	T	A	15: 63,993,882 (GRCm39)	E731V	probably damaging	Het
Cdca2	C	T	14: 67,950,589 (GRCm39)	R114Q	probably damaging	Het
Dock5	A	G	14: 68,065,899 (GRCm39)	I368T	probably benign	Het
Dse	T	A	10: 34,028,433 (GRCm39)	M886L	probably benign	Het
Efcab11	A	G	12: 99,820,861 (GRCm39)		probably benign	Het
Eri2	G	A	7: 119,385,158 (GRCm39)	P448S	probably benign	Het
Iffo1	A	G	6: 125,122,329 (GRCm39)	D37G	possibly damaging	Het
Lrrc39	A	T	3: 116,371,923 (GRCm39)	Q230L	probably damaging	Het
Macrod2	C	A	2: 142,216,196 (GRCm39)	S443Y	possibly damaging	Het
Map4	T	A	9: 109,807,938 (GRCm39)	M1K	probably null	Het
Misfa	T	C	7: 46,633,572 (GRCm39)		probably benign	Het
Myh4	G	A	11: 67,142,760 (GRCm39)	A974T	possibly damaging	Het
Npm3	T	C	19: 45,737,299 (GRCm39)	T72A	probably benign	Het
Or14j1	T	C	17: 38,146,415 (GRCm39)	F175S	probably damaging	Het
P3h4	T	C	11: 100,304,901 (GRCm39)	N162S	probably damaging	Het
Pcnx2	G	T	8: 126,478,894 (GRCm39)	T2118N	probably benign	Het
Pla2r1	G	T	2: 60,258,932 (GRCm39)	P1152Q	possibly damaging	Het
Pole2	C	T	12: 69,269,936 (GRCm39)	E63K	possibly damaging	Het
Polr3e	T	A	7: 120,531,363 (GRCm39)	F151I	probably damaging	Het
Prdm2	T	C	4: 142,862,313 (GRCm39)	T326A	probably benign	Het
Prdm8	G	T	5: 98,331,324 (GRCm39)	A59S	possibly damaging	Het
Reps1	A	G	10: 17,994,770 (GRCm39)	N538S	probably damaging	Het
Scube1	T	C	15: 83,587,741 (GRCm39)	D76G	probably damaging	Het
Senp6	T	C	9: 80,021,225 (GRCm39)	F302L	probably damaging	Het
Skic2	A	T	17: 35,060,651 (GRCm39)	I822N	probably damaging	Het
Slc17a7	T	C	7: 44,820,367 (GRCm39)	I299T	probably damaging	Het
Slc25a26	T	A	6: 94,484,520 (GRCm39)	V20E	probably damaging	Het
Spem2	T	C	11: 69,708,089 (GRCm39)		probably null	Het
Stat5b	A	C	11: 100,695,739 (GRCm39)	F81C	probably damaging	Het
Taf6	A	T	5: 138,179,169 (GRCm39)	V423E	probably damaging	Het
Tcaf2	T	A	6: 42,606,020 (GRCm39)	Y551F	probably damaging	Het
Tgm6	A	T	2: 129,977,790 (GRCm39)	D43V	probably benign	Het
Tubb3	G	T	8: 124,147,603 (GRCm39)	V179L	probably damaging	Het
Ubr1	G	A	2: 120,776,830 (GRCm39)	H304Y	probably benign	Het
Vmn2r56	T	G	7: 12,449,408 (GRCm39)	M277L	probably benign	Het

Other mutations in Wdr72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Wdr72	APN	9	74,062,411 (GRCm39)	missense	probably damaging	1.00
IGL01385:Wdr72	APN	9	74,086,788 (GRCm39)	splice site	probably benign
IGL01512:Wdr72	APN	9	74,056,041 (GRCm39)	missense	probably benign	0.02
IGL01544:Wdr72	APN	9	74,056,007 (GRCm39)	missense	probably damaging	1.00
IGL01938:Wdr72	APN	9	74,056,056 (GRCm39)	missense	probably benign	0.25
IGL02090:Wdr72	APN	9	74,062,212 (GRCm39)	missense	possibly damaging	0.87
IGL02121:Wdr72	APN	9	74,189,011 (GRCm39)	utr 3 prime	probably benign
IGL02140:Wdr72	APN	9	74,117,505 (GRCm39)	missense	probably benign	0.40
IGL02171:Wdr72	APN	9	74,117,816 (GRCm39)	missense	possibly damaging	0.94
IGL02936:Wdr72	APN	9	74,059,862 (GRCm39)	missense	probably damaging	1.00
IGL02979:Wdr72	APN	9	74,086,838 (GRCm39)	missense	probably damaging	1.00
IGL03263:Wdr72	APN	9	74,064,711 (GRCm39)	missense	probably damaging	1.00
Arresting	UTSW	9	74,086,783 (GRCm39)	splice site	probably benign
R0332_Wdr72_931	UTSW	9	74,064,534 (GRCm39)	critical splice acceptor site	probably null
R2036_Wdr72_658	UTSW	9	74,058,876 (GRCm39)	missense	probably damaging	1.00
F5770:Wdr72	UTSW	9	74,064,552 (GRCm39)	missense	probably damaging	0.96
R0107:Wdr72	UTSW	9	74,117,715 (GRCm39)	missense	probably damaging	1.00
R0332:Wdr72	UTSW	9	74,064,534 (GRCm39)	critical splice acceptor site	probably null
R0420:Wdr72	UTSW	9	74,118,039 (GRCm39)	missense	possibly damaging	0.75
R0536:Wdr72	UTSW	9	74,064,690 (GRCm39)	missense	probably damaging	1.00
R0565:Wdr72	UTSW	9	74,124,588 (GRCm39)	missense	probably benign	0.34
R0755:Wdr72	UTSW	9	74,052,376 (GRCm39)	missense	probably benign	0.05
R1183:Wdr72	UTSW	9	74,086,867 (GRCm39)	missense	probably benign	0.00
R1636:Wdr72	UTSW	9	74,086,907 (GRCm39)	missense	probably benign	0.00
R1668:Wdr72	UTSW	9	74,117,444 (GRCm39)	missense	probably damaging	0.99
R1687:Wdr72	UTSW	9	74,117,481 (GRCm39)	missense	probably benign	0.13
R1813:Wdr72	UTSW	9	74,183,298 (GRCm39)	missense	possibly damaging	0.85
R1835:Wdr72	UTSW	9	74,058,899 (GRCm39)	missense	probably damaging	1.00
R2036:Wdr72	UTSW	9	74,058,876 (GRCm39)	missense	probably damaging	1.00
R2113:Wdr72	UTSW	9	74,052,454 (GRCm39)	missense	probably benign	0.07
R2331:Wdr72	UTSW	9	74,055,608 (GRCm39)	missense	probably damaging	1.00
R2369:Wdr72	UTSW	9	74,117,457 (GRCm39)	missense	possibly damaging	0.77
R3973:Wdr72	UTSW	9	74,125,979 (GRCm39)	missense	probably benign
R4021:Wdr72	UTSW	9	74,058,875 (GRCm39)	missense	probably benign	0.18
R4596:Wdr72	UTSW	9	74,058,887 (GRCm39)	missense	probably benign	0.00
R4665:Wdr72	UTSW	9	74,117,306 (GRCm39)	missense	probably benign	0.10
R4694:Wdr72	UTSW	9	74,086,837 (GRCm39)	missense	probably damaging	1.00
R4894:Wdr72	UTSW	9	74,117,843 (GRCm39)	missense	probably benign	0.00
R5027:Wdr72	UTSW	9	74,053,258 (GRCm39)	missense	probably damaging	1.00
R5269:Wdr72	UTSW	9	74,064,653 (GRCm39)	missense	probably damaging	1.00
R5432:Wdr72	UTSW	9	74,183,228 (GRCm39)	missense	probably damaging	1.00
R5470:Wdr72	UTSW	9	74,046,981 (GRCm39)	nonsense	probably null
R5717:Wdr72	UTSW	9	74,055,487 (GRCm39)	missense	probably damaging	1.00
R5793:Wdr72	UTSW	9	74,117,625 (GRCm39)	missense	probably benign	0.02
R5963:Wdr72	UTSW	9	74,052,310 (GRCm39)	missense	probably damaging	1.00
R6108:Wdr72	UTSW	9	74,058,950 (GRCm39)	missense	probably damaging	0.97
R6111:Wdr72	UTSW	9	74,117,607 (GRCm39)	missense	probably benign	0.00
R6113:Wdr72	UTSW	9	74,059,923 (GRCm39)	missense	probably benign	0.02
R6245:Wdr72	UTSW	9	74,055,505 (GRCm39)	missense	probably damaging	1.00
R6469:Wdr72	UTSW	9	74,120,643 (GRCm39)	missense	probably benign	0.15
R6726:Wdr72	UTSW	9	74,059,822 (GRCm39)	missense	possibly damaging	0.54
R6857:Wdr72	UTSW	9	74,062,323 (GRCm39)	missense	probably damaging	1.00
R6916:Wdr72	UTSW	9	74,062,321 (GRCm39)	missense	probably benign
R6921:Wdr72	UTSW	9	74,117,928 (GRCm39)	missense	probably benign
R7092:Wdr72	UTSW	9	74,117,754 (GRCm39)	missense	probably damaging	1.00
R7104:Wdr72	UTSW	9	74,055,597 (GRCm39)	missense	probably damaging	1.00
R7560:Wdr72	UTSW	9	74,117,408 (GRCm39)	missense	probably damaging	1.00
R7684:Wdr72	UTSW	9	74,054,292 (GRCm39)	missense	probably damaging	1.00
R8025:Wdr72	UTSW	9	74,050,781 (GRCm39)	missense	probably benign	0.00
R8035:Wdr72	UTSW	9	74,086,783 (GRCm39)	splice site	probably benign
R8079:Wdr72	UTSW	9	74,126,054 (GRCm39)	missense	probably damaging	0.99
R8142:Wdr72	UTSW	9	74,046,949 (GRCm39)	missense	probably damaging	1.00
R8166:Wdr72	UTSW	9	74,120,610 (GRCm39)	missense	probably benign
R8266:Wdr72	UTSW	9	74,050,774 (GRCm39)	missense	probably damaging	1.00
R8465:Wdr72	UTSW	9	74,059,730 (GRCm39)	missense	possibly damaging	0.93
R8968:Wdr72	UTSW	9	74,059,729 (GRCm39)	missense	probably benign	0.31
R9074:Wdr72	UTSW	9	74,125,902 (GRCm39)	missense	possibly damaging	0.86
R9336:Wdr72	UTSW	9	74,117,292 (GRCm39)	missense	probably damaging	1.00
R9643:Wdr72	UTSW	9	74,118,041 (GRCm39)	missense	probably damaging	1.00
V7583:Wdr72	UTSW	9	74,064,552 (GRCm39)	missense	probably damaging	0.96
X0067:Wdr72	UTSW	9	74,059,784 (GRCm39)	missense	probably damaging	1.00
Z1177:Wdr72	UTSW	9	74,117,818 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16