Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02140:Wdr72'

281515

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 #

IGL02140

Quality Score

Status

Chromosome

Chromosomal Location

74017608-74190485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74117505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 739 (Q739L)

Ref Sequence

ENSEMBL: ENSMUSP00000149349 (fasta)

Gene Model

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

AlphaFold

D3YYM4

Predicted Effect

probably benign
Transcript: ENSMUST00000055879
AA Change: Q751L

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: Q751L

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 benign
Transcript: ENSMUST00000215440
AA Change: Q739L

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,195,034 (GRCm39)	V144I	probably benign	Het
B3gat1	A	G	9: 26,669,043 (GRCm39)	K325E	possibly damaging	Het
Cd36	T	A	5: 18,033,766 (GRCm39)		probably benign	Het
Ces3a	A	G	8: 105,782,263 (GRCm39)	E325G	probably benign	Het
Col1a2	G	A	6: 4,515,639 (GRCm39)	G136D	unknown	Het
Cyp3a25	T	G	5: 145,946,273 (GRCm39)		probably benign	Het
Cyp3a59	T	C	5: 146,039,690 (GRCm39)	L321P	probably damaging	Het
Dag1	A	G	9: 108,095,391 (GRCm39)	S34P	probably damaging	Het
Defa27	A	T	8: 21,805,674 (GRCm39)	K13*	probably null	Het
Disp2	T	C	2: 118,621,350 (GRCm39)	F694S	probably benign	Het
Dnah12	G	T	14: 26,437,732 (GRCm39)	A454S	probably benign	Het
Dync2h1	A	T	9: 7,147,791 (GRCm39)	D946E	probably benign	Het
Fcgbp	A	G	7: 27,791,379 (GRCm39)	E880G	probably damaging	Het
Fgfr4	T	C	13: 55,308,992 (GRCm39)	V371A	probably benign	Het
Frem3	G	T	8: 81,340,736 (GRCm39)	V1010F	possibly damaging	Het
Gm13283	G	A	4: 88,679,272 (GRCm39)	V88I	probably benign	Het
Gm5134	G	A	10: 75,821,945 (GRCm39)	V260I	probably benign	Het
Grhl2	A	G	15: 37,270,830 (GRCm39)		probably benign	Het
Hectd1	A	T	12: 51,820,920 (GRCm39)	W1090R	probably damaging	Het
Hydin	G	A	8: 111,293,570 (GRCm39)	V3506I	probably benign	Het
Igkc	C	T	6: 70,703,559 (GRCm39)	R47*	probably null	Het
Iglv3	T	A	16: 19,060,160 (GRCm39)	Q56L	probably damaging	Het
Impg2	T	A	16: 56,079,831 (GRCm39)	M436K	probably benign	Het
Kcnma1	T	A	14: 23,359,113 (GRCm39)	K1110N	probably damaging	Het
Marf1	T	C	16: 13,959,776 (GRCm39)	E694G	probably damaging	Het
Nup37	A	C	10: 87,994,791 (GRCm39)	K118T	probably benign	Het
Or10al7	A	G	17: 38,366,481 (GRCm39)	M1T	probably null	Het
Or4a73	T	C	2: 89,420,586 (GRCm39)	E291G	probably damaging	Het
P3h1	A	G	4: 119,095,062 (GRCm39)	D273G	probably damaging	Het
Pcsk9	T	C	4: 106,311,843 (GRCm39)	D178G	probably benign	Het
Phyhipl	T	C	10: 70,406,660 (GRCm39)	K53R	probably damaging	Het
Pkp3	T	G	7: 140,669,249 (GRCm39)	L697R	probably damaging	Het
Rab11fip3	A	G	17: 26,286,866 (GRCm39)	V429A	probably benign	Het
Rgl2	A	G	17: 34,152,098 (GRCm39)	N295S	probably damaging	Het
Spag5	A	T	11: 78,206,459 (GRCm39)	D817V	possibly damaging	Het
Tas2r117	C	A	6: 132,780,558 (GRCm39)	T232K	probably benign	Het
Thumpd1	A	G	7: 119,316,232 (GRCm39)	V239A	possibly damaging	Het
Timd4	T	A	11: 46,710,841 (GRCm39)	S248T	possibly damaging	Het
Tmem207	A	T	16: 26,335,490 (GRCm39)	N82K	probably benign	Het
Ttn	T	A	2: 76,538,557 (GRCm39)	T34714S	possibly damaging	Het
Vmn1r194	G	A	13: 22,428,706 (GRCm39)	V108I	probably benign	Het
Vmn2r24	T	A	6: 123,757,631 (GRCm39)	S166R	probably damaging	Het
Vmn2r32	A	G	7: 7,479,696 (GRCm39)	F159S	probably damaging	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
IGL02171:Wdr72	APN	9	74,117,816 (GRCm39)	missense	possibly damaging	0.94
IGL02208:Wdr72	APN	9	74,064,581 (GRCm39)	missense	probably damaging	1.00
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