Mutagenetix > Incidental Mutation

Incidental Mutation 'R6921:Wdr72'

539648

Institutional Source

Beutler Lab

Gene Symbol

Wdr72

Ensembl Gene

ENSMUSG00000044976

Gene Name

WD repeat domain 72

Synonyms

MMRRC Submission

045006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R6921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74017608-74190485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74117928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 880 (H880R)

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: H892R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: H892R

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: H880R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 96.4%

Validation Efficiency

96% (46/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,166,019 (GRCm39)	H118Q	probably damaging	Het
Adgrl3	T	G	5: 81,796,560 (GRCm39)	V623G	probably damaging	Het
B9d2	A	G	7: 25,385,442 (GRCm39)	D84G	probably damaging	Het
Clec1a	A	T	6: 129,405,827 (GRCm39)	L268H	probably damaging	Het
Copa	A	T	1: 171,939,491 (GRCm39)	N576I	possibly damaging	Het
Cyp11b1	T	C	15: 74,712,798 (GRCm39)	T88A	probably benign	Het
Dis3l2	T	C	1: 86,785,063 (GRCm39)	I318T	probably benign	Het
Dmtf1	T	C	5: 9,180,654 (GRCm39)		probably benign	Het
Dnah17	C	A	11: 117,932,310 (GRCm39)	A3639S	probably damaging	Het
Dnajc8	T	A	4: 132,272,031 (GRCm39)	I89N	probably damaging	Het
Dync2h1	T	A	9: 7,102,549 (GRCm39)	H377L	probably benign	Het
Erfe	T	A	1: 91,298,054 (GRCm39)	I212N	probably benign	Het
Fam117b	A	G	1: 59,992,094 (GRCm39)	T248A	probably damaging	Het
Fbxo10	A	T	4: 45,044,849 (GRCm39)	N595K	probably damaging	Het
Fzd10	T	A	5: 128,678,646 (GRCm39)	M122K	probably damaging	Het
Gpr15	C	T	16: 58,538,144 (GRCm39)	R315H	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H6pd	T	C	4: 150,066,508 (GRCm39)	D626G	probably damaging	Het
Hexd	A	G	11: 121,113,107 (GRCm39)	D514G	probably damaging	Het
Hoxd4	T	C	2: 74,558,836 (GRCm39)	S220P	possibly damaging	Het
Invs	A	G	4: 48,396,260 (GRCm39)	H311R	possibly damaging	Het
Ip6k1	A	G	9: 107,901,634 (GRCm39)	T70A	probably damaging	Het
Lipt2	T	C	7: 99,809,578 (GRCm39)	C222R	probably damaging	Het
Lrrc3	T	A	10: 77,736,866 (GRCm39)	D190V	probably damaging	Het
Marchf10	T	C	11: 105,280,603 (GRCm39)	T561A	probably benign	Het
Mcm10	G	A	2: 5,005,746 (GRCm39)	T463I	probably benign	Het
Mideas	A	G	12: 84,203,233 (GRCm39)	S890P	probably damaging	Het
Mmel1	T	C	4: 154,966,134 (GRCm39)	L52P	probably damaging	Het
Nipbl	T	C	15: 8,332,969 (GRCm39)	N2218S	probably benign	Het
Nr4a3	C	T	4: 48,051,486 (GRCm39)	P80L	probably benign	Het
Nrip1	C	T	16: 76,089,476 (GRCm39)	G694R	possibly damaging	Het
Oit3	A	T	10: 59,271,767 (GRCm39)	C197S	probably damaging	Het
Or5al1	C	T	2: 85,990,196 (GRCm39)	V173M	probably benign	Het
Or8b1b	A	G	9: 38,375,543 (GRCm39)	I69V	probably benign	Het
Otol1	A	G	3: 69,935,433 (GRCm39)	E475G	possibly damaging	Het
Pes1	T	C	11: 3,923,330 (GRCm39)	F168L	probably damaging	Het
Plch1	C	T	3: 63,615,155 (GRCm39)	R780H	possibly damaging	Het
Pxdn	C	G	12: 30,065,504 (GRCm39)	P1275A	probably damaging	Het
Sgcz	T	C	8: 37,993,443 (GRCm39)	E218G	probably damaging	Het
Slc27a5	A	T	7: 12,725,135 (GRCm39)	N437K	probably damaging	Het
Sult2b1	A	G	7: 45,384,612 (GRCm39)	S155P	probably damaging	Het
Tgfbrap1	T	C	1: 43,091,056 (GRCm39)	M690V	probably benign	Het
Tmem151a	A	T	19: 5,133,119 (GRCm39)	L29Q	probably damaging	Het
Tmprss2	A	G	16: 97,369,637 (GRCm39)	I379T	probably damaging	Het
Vmn1r168	T	A	7: 23,240,323 (GRCm39)	V60E	probably damaging	Het
Vmn2r73	A	C	7: 85,507,446 (GRCm39)	V622G	probably benign	Het
Zfhx3	A	G	8: 109,678,024 (GRCm39)	T3025A	possibly 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AGATTTGGACAGCCTCTGC -3'
(R):5'- TGACAGCCTTAATGTCTGCATG -3'

Sequencing Primer
(F):5'- CTCAGTATCTTAAAGCTGCAGGGC -3'
(R):5'- CAGCCTTAATGTCTGCATGAGAATC -3'

Posted On

2018-11-06