Mutagenetix > Incidental Mutations

Incidental Mutation 'R0107:Wdr72'

33334

Institutional Source

Beutler Lab

Gene Symbol

Wdr72

Ensembl Gene

ENSMUSG00000044976

Gene Name

WD repeat domain 72

Synonyms

MMRRC Submission

038393-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R0107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74110356-74283308 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74210433 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 821 (D821V)

Ref Sequence

ENSEMBL: ENSMUSP00000057320 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000055879
AA Change: D821V

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

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: D821V

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: D809V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.2636

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.6%

Validation Efficiency

99% (71/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,080,834	V825A	probably benign	Het
Adamts7	T	C	9: 90,180,720	I409T	possibly damaging	Het
Adck1	T	C	12: 88,446,656	W253R	possibly damaging	Het
Afg3l2	A	G	18: 67,431,766	F213L	probably damaging	Het
Ankle2	T	C	5: 110,253,027	V743A	probably benign	Het
Ankrd34c	C	T	9: 89,729,484	R268H	probably benign	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Ccdc7b	T	G	8: 129,178,197		probably benign	Het
Cd320	A	T	17: 33,848,085	M169L	probably benign	Het
Chn1	A	G	2: 73,614,684	Y338H	probably damaging	Het
Chuk	T	A	19: 44,096,919	S263C	probably damaging	Het
Dennd4b	C	A	3: 90,272,736	P663T	possibly damaging	Het
Dnajc24	T	G	2: 106,001,914		probably benign	Het
Fam172a	A	G	13: 77,902,814	D145G	probably damaging	Het
Fbn2	A	G	18: 58,056,203	V1617A	probably benign	Het
Fermt2	T	C	14: 45,464,822	N502D	probably damaging	Het
Frrs1	A	T	3: 116,896,716	I3F	probably damaging	Het
Fut1	C	A	7: 45,618,846	Q20K	possibly damaging	Het
Gbf1	T	C	19: 46,284,828	V1709A	probably benign	Het
Gfra3	G	T	18: 34,711,306	H60Q	probably benign	Het
Gm10750	T	A	2: 149,016,053	M93L	unknown	Het
Gm5538	T	A	3: 59,752,316	L397I	possibly damaging	Het
Hmcn1	T	A	1: 150,587,015	I5124L	probably benign	Het
Hps3	A	C	3: 20,030,796	L76R	probably damaging	Het
Ifrd1	T	A	12: 40,214,081	Q105L	probably damaging	Het
Irs2	A	T	8: 11,004,691	V1247E	probably damaging	Het
Itgal	T	C	7: 127,328,559		probably benign	Het
Ivns1abp	A	T	1: 151,361,570	N495I	probably damaging	Het
Kank1	T	A	19: 25,430,366		probably benign	Het
Mroh8	T	C	2: 157,225,468	Q657R	probably benign	Het
Mthfd1l	T	C	10: 4,041,838	Y597H	probably benign	Het
Myom1	G	A	17: 71,077,365	V692I	probably damaging	Het
Olfr347	T	G	2: 36,734,718	Y132*	probably null	Het
Olfr45	A	T	7: 140,691,345	M147L	probably benign	Het
Olfr835	A	G	9: 19,035,333	D70G	probably damaging	Het
Palmd	A	T	3: 116,924,076	H257Q	probably damaging	Het
Pcnx2	A	T	8: 125,753,586	V1994D	probably benign	Het
Phkb	G	A	8: 86,016,931	G553S	probably benign	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Ptprn	A	T	1: 75,255,712	L453M	probably damaging	Het
Ptprz1	T	A	6: 23,000,570	D886E	probably damaging	Het
Rcn1	T	A	2: 105,394,781	I110F	possibly damaging	Het
Scn1a	T	A	2: 66,324,633	T661S	probably benign	Het
Slc6a19	A	G	13: 73,684,057	Y467H	possibly damaging	Het
Slc9c1	T	A	16: 45,575,420	D611E	probably benign	Het
Slitrk6	T	C	14: 110,751,963	E104G	possibly damaging	Het
Spag17	A	T	3: 100,050,787	K920N	possibly damaging	Het
St3gal5	A	G	6: 72,142,149	S82G	probably benign	Het
Tlk1	T	C	2: 70,713,989	*767W	probably null	Het
Tln2	A	G	9: 67,370,706	V342A	probably damaging	Het
Tmem104	T	A	11: 115,202,180	M132K	probably damaging	Het
Tmem184c	A	G	8: 77,597,073	S387P	possibly damaging	Het
Tmtc1	A	G	6: 148,425,913	V34A	possibly damaging	Het
Trim46	A	G	3: 89,236,333	F596S	probably damaging	Het
Unc79	T	A	12: 103,134,525	D1870E	possibly damaging	Het
Utp20	T	C	10: 88,778,391	T1234A	probably benign	Het
Vmn1r31	T	A	6: 58,472,743	T46S	probably benign	Het
Vps13a	A	T	19: 16,691,824	L1341Q	probably benign	Het
Zfhx4	T	C	3: 5,398,982	L1400P	probably damaging	Het
Zfp217	T	A	2: 170,114,874	K735*	probably null	Het
Zfp235	A	G	7: 24,137,116	Q29R	probably damaging	Het
Zfp628	A	G	7: 4,920,168	Y463C	probably damaging	Het
Zkscan4	A	G	13: 21,484,581	T401A	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
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
F5770:Wdr72	UTSW	9	74157270	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- CATCTTGAGGAGAGCCAAGAGCAC -3'
(R):5'- GCATCTGATTGCTGCACAGAGTCAC -3'

Sequencing Primer
(F):5'- CAAAGCATCGTGTAGCTCTC -3'
(R):5'- GTCCAAAACTTTTCTGGAGCACAG -3'

Posted On

2013-05-09