Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02936:Wdr72'

364311

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 #

IGL02936

Quality Score

Status

Chromosome

Chromosomal Location

74017608-74190485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74059862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 424 (D424V)

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: D436V

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

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: D436V

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: D424V

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,165,687 (GRCm39)	T229I	possibly damaging	Het
Acad11	T	C	9: 103,990,711 (GRCm39)	S439P	probably benign	Het
Acer2	A	T	4: 86,818,796 (GRCm39)	N148I	possibly damaging	Het
Adgre1	A	G	17: 57,785,833 (GRCm39)	I860V	probably benign	Het
Asb2	A	G	12: 103,302,173 (GRCm39)	I125T	probably benign	Het
Atp13a2	G	T	4: 140,729,260 (GRCm39)	L614F	probably benign	Het
Car7	A	G	8: 105,274,854 (GRCm39)	T132A	possibly damaging	Het
Cfap221	T	C	1: 119,912,482 (GRCm39)	D135G	probably damaging	Het
Crtc3	A	G	7: 80,239,511 (GRCm39)	F614L	probably damaging	Het
Csn3	T	G	5: 88,077,992 (GRCm39)	I166S	possibly damaging	Het
Dna2	T	G	10: 62,792,879 (GRCm39)	L298R	probably damaging	Het
Ece1	T	C	4: 137,673,612 (GRCm39)	S387P	probably benign	Het
Fbxo28	C	T	1: 182,169,093 (GRCm39)	G15D	unknown	Het
Fbxw24	A	T	9: 109,454,026 (GRCm39)		probably null	Het
Foxd3	T	A	4: 99,545,052 (GRCm39)	V64E	probably benign	Het
Galnt7	A	C	8: 58,037,248 (GRCm39)	V47G	probably benign	Het
Gcc2	A	T	10: 58,131,962 (GRCm39)	L1453F	probably damaging	Het
Gcnt4	G	A	13: 97,082,919 (GRCm39)	V72I	probably benign	Het
Gm10269	A	C	18: 20,816,010 (GRCm39)		probably null	Het
Hmcn1	T	G	1: 150,573,273 (GRCm39)	Q2125H	probably damaging	Het
Iho1	T	C	9: 108,289,702 (GRCm39)	I173M	possibly damaging	Het
Llcfc1	T	A	6: 41,661,593 (GRCm39)	S48T	probably benign	Het
Met	G	T	6: 17,553,396 (GRCm39)	V1061F	probably damaging	Het
Mthfd2	G	A	6: 83,288,342 (GRCm39)	H138Y	probably damaging	Het
Mtus1	A	T	8: 41,452,554 (GRCm39)	D1041E	possibly damaging	Het
Mug2	G	A	6: 122,058,346 (GRCm39)		probably null	Het
Nos3	C	T	5: 24,585,991 (GRCm39)	T878I	probably damaging	Het
Or4c15	A	G	2: 88,760,128 (GRCm39)	M177T	probably benign	Het
Or52b1	A	T	7: 104,979,212 (GRCm39)	Y62*	probably null	Het
Pbrm1	T	A	14: 30,783,470 (GRCm39)	V497D	probably damaging	Het
Plcd1	T	C	9: 118,903,267 (GRCm39)	E471G	probably damaging	Het
Poc1a	A	G	9: 106,162,226 (GRCm39)	T84A	probably damaging	Het
Ppm1f	A	G	16: 16,733,100 (GRCm39)	H209R	probably damaging	Het
Rccd1	T	A	7: 79,966,794 (GRCm39)	K329N	probably damaging	Het
Serpinb9g	A	T	13: 33,678,865 (GRCm39)	N245I	possibly damaging	Het
Slc22a26	A	C	19: 7,768,470 (GRCm39)	F196V	probably damaging	Het
Tial1	G	A	7: 128,044,387 (GRCm39)		probably benign	Het
Trpa1	A	T	1: 14,946,193 (GRCm39)		probably null	Het
Vmn1r15	A	T	6: 57,235,803 (GRCm39)	K224*	probably null	Het
Wt1	A	G	2: 104,999,384 (GRCm39)	K308E	probably damaging	Het
Zwint	T	C	10: 72,492,956 (GRCm39)	S193P	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
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
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

2015-12-18