Mutagenetix > Incidental Mutation

Incidental Mutation 'R4665:Wdr72'

351845

Institutional Source

Beutler Lab

Gene Symbol

Wdr72

Ensembl Gene

ENSMUSG00000044976

Gene Name

WD repeat domain 72

Synonyms

MMRRC Submission

041923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R4665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74017608-74190485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74117306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 673 (T673A)

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: T685A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: T685A

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: T673A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0598

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,902,059 (GRCm39)	M76K	probably null	Het
Abcc4	A	G	14: 118,766,414 (GRCm39)	I886T	probably benign	Het
Adam6a	T	C	12: 113,507,992 (GRCm39)	Y122H	possibly damaging	Het
Adgre1	A	G	17: 57,787,947 (GRCm39)	T905A	probably benign	Het
Arap2	A	G	5: 62,827,312 (GRCm39)	F969L	possibly damaging	Het
Arhgef4	G	T	1: 34,845,113 (GRCm39)	G1439V	possibly damaging	Het
Atm	A	G	9: 53,375,529 (GRCm39)	W2097R	probably benign	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
AU016765	T	A	17: 64,826,916 (GRCm39)		noncoding transcript	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Cdc42bpa	A	G	1: 179,972,130 (GRCm39)	T527A	probably damaging	Het
Chmp7	A	T	14: 69,958,404 (GRCm39)	V255D	probably damaging	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cpsf2	T	C	12: 101,949,466 (GRCm39)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Crygn	T	A	5: 24,956,019 (GRCm39)		probably benign	Het
Csde1	C	T	3: 102,954,388 (GRCm39)	T386M	probably damaging	Het
Cux1	G	A	5: 136,315,653 (GRCm39)	T1129I	probably damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dhx16	T	C	17: 36,190,835 (GRCm39)	V11A	probably damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Eif5b	A	G	1: 38,084,793 (GRCm39)	E880G	probably damaging	Het
Eml6	A	T	11: 29,769,007 (GRCm39)	Y67*	probably null	Het
Faim2	C	A	15: 99,422,581 (GRCm39)		probably null	Het
Faim2	T	G	15: 99,422,582 (GRCm39)	S72R	probably benign	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fhip1a	A	T	3: 85,637,988 (GRCm39)	W104R	probably damaging	Het
Gak	A	G	5: 108,730,826 (GRCm39)	I860T	probably benign	Het
Garem2	C	A	5: 30,319,665 (GRCm39)	R376S	probably damaging	Het
Gdf2	A	G	14: 33,667,408 (GRCm39)	T377A	probably damaging	Het
Gm2431	A	T	7: 141,811,440 (GRCm39)	C155S	unknown	Het
Gm5814	A	G	17: 47,721,288 (GRCm39)	M1V	probably null	Het
Gm5901	C	G	7: 105,026,438 (GRCm39)	Q69E	possibly damaging	Het
Gm9945	A	G	11: 53,371,202 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,908,956 (GRCm39)	V486A	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Hoxa11	T	A	6: 52,220,483 (GRCm39)	N267Y	probably damaging	Het
Ifngr2	C	A	16: 91,356,926 (GRCm39)	H153Q	possibly damaging	Het
Ift172	G	T	5: 31,442,598 (GRCm39)	Q190K	possibly damaging	Het
Iqch	A	G	9: 63,352,853 (GRCm39)	V899A	probably damaging	Het
Lactb2	T	C	1: 13,717,624 (GRCm39)	E133G	probably damaging	Het
Lig3	G	A	11: 82,691,076 (GRCm39)	V110M	probably damaging	Het
Lin54	C	A	5: 100,600,943 (GRCm39)	Q262H	possibly damaging	Het
Lingo3	G	A	10: 80,671,372 (GRCm39)	T186I	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Ly86	T	A	13: 37,559,010 (GRCm39)	F70I	probably damaging	Het
Mospd2	A	T	X: 163,730,329 (GRCm39)	S301T	probably benign	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Myo15a	A	T	11: 60,395,705 (GRCm39)		probably null	Het
Nme8	C	G	13: 19,858,605 (GRCm39)	A78P	probably damaging	Het
Obscn	C	T	11: 59,015,578 (GRCm39)	V965M	probably damaging	Het
Or10ag57	T	A	2: 87,218,220 (GRCm39)	I57K	probably damaging	Het
Parn	T	C	16: 13,358,967 (GRCm39)	K592E	probably benign	Het
Pax6	C	A	2: 105,514,343 (GRCm39)		probably benign	Het
Pdcd6	A	T	13: 74,465,325 (GRCm39)	M1K	probably null	Het
Pex11b	T	C	3: 96,551,151 (GRCm39)	L198P	possibly damaging	Het
Phldb3	C	T	7: 24,310,852 (GRCm39)	A28V	probably benign	Het
Pkn3	C	A	2: 29,975,469 (GRCm39)		probably benign	Het
Pknox1	T	C	17: 31,814,300 (GRCm39)		probably null	Het
Ptprg	A	C	14: 12,215,288 (GRCm38)	I1092L	possibly damaging	Het
Pxylp1	A	C	9: 96,707,338 (GRCm39)	I281M	probably damaging	Het
Ramac	C	T	7: 81,418,178 (GRCm39)	R78W	probably damaging	Het
Retreg2	G	T	1: 75,121,310 (GRCm39)	L195F	probably damaging	Het
Rgs20	G	C	1: 5,091,231 (GRCm39)	F66L	probably benign	Het
Ripk4	C	T	16: 97,556,273 (GRCm39)	V157I	probably damaging	Het
Ryr2	T	C	13: 11,765,571 (GRCm39)		probably null	Het
Scaper	A	T	9: 55,819,339 (GRCm39)	S125R	probably damaging	Het
Sec16a	C	T	2: 26,302,970 (GRCm39)		probably benign	Het
Slc35f6	T	C	5: 30,812,957 (GRCm39)	L37P	probably damaging	Het
Slc6a12	T	A	6: 121,335,972 (GRCm39)		probably benign	Het
Slc9a5	A	G	8: 106,094,760 (GRCm39)	K784E	probably damaging	Het
Snd1	T	C	6: 28,707,053 (GRCm39)	V455A	probably damaging	Het
Ssbp2	A	T	13: 91,687,454 (GRCm39)	I46L	possibly damaging	Het
Stil	A	G	4: 114,898,841 (GRCm39)	D1157G	probably benign	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tdpoz6	G	A	3: 93,599,776 (GRCm39)	H198Y	probably damaging	Het
Tdrd6	T	A	17: 43,935,007 (GRCm39)	M2014L	probably benign	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Tmprss11d	T	C	5: 86,457,260 (GRCm39)	D133G	probably damaging	Het
Tpr	C	T	1: 150,320,150 (GRCm39)	R2233W	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vgll1	A	G	X: 56,137,792 (GRCm39)	R54G	possibly damaging	Het
Zfp169	C	T	13: 48,644,339 (GRCm39)		probably benign	Het
Zfp319	G	A	8: 96,052,201 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAAACCAGTTGTCACAGCATTTC -3'
(R):5'- AGAACTTACTGGTGCTGTCCC -3'

Sequencing Primer
(F):5'- AACCAGTTGTCACAGCATTTCTTATC -3'
(R):5'- TCTGTCTGGAGAGAGCTACAC -3'

Posted On

2015-10-08