Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02121:Wdr72'

280641

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr72

Ensembl Gene

ENSMUSG00000044976

Gene Name

WD repeat domain 72

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL02121

Quality Score

Status

Chromosome

Chromosomal Location

74110356-74283308 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to A at 74281729 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149349 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000055879

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976

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

noncoding transcript
Transcript: ENSMUST00000149439

Predicted Effect

probably benign
Transcript: ENSMUST00000215440

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	A	T	13: 97,022,530	V122D	unknown	Het
4930579F01Rik	T	G	3: 138,164,373	Y199S	possibly damaging	Het
Abca6	T	A	11: 110,182,924	I1434F	probably benign	Het
Acsm1	T	C	7: 119,658,412	V467A	possibly damaging	Het
Alg3	T	C	16: 20,606,535	T260A	possibly damaging	Het
Aoc1	A	G	6: 48,906,320		probably null	Het
Ap5b1	C	T	19: 5,570,787	T745I	possibly damaging	Het
Atp6v1c2	T	G	12: 17,291,440	K272Q	possibly damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Clcn7	C	T	17: 25,153,084	A426V	possibly damaging	Het
Clec14a	T	C	12: 58,268,437	E133G	probably damaging	Het
Col4a3bp	T	G	13: 96,599,474	Y181D	probably benign	Het
Diexf	A	T	1: 193,118,278	D411E	probably benign	Het
Dst	T	A	1: 34,228,657	V2720E	probably damaging	Het
Efr3a	C	T	15: 65,871,150		probably benign	Het
Fam83g	T	C	11: 61,684,783	S84P	probably benign	Het
Gm10436	T	C	12: 88,178,472	D28G	possibly damaging	Het
Gm7251	T	C	13: 49,805,906		noncoding transcript	Het
Gnptab	T	G	10: 88,429,461	S312A	possibly damaging	Het
Grap2	C	A	15: 80,647,875	S230R	possibly damaging	Het
Grm6	T	A	11: 50,859,656	C549S	probably damaging	Het
Gtf3c1	A	T	7: 125,646,731	L1504*	probably null	Het
Iars	A	G	13: 49,724,696	M899V	probably benign	Het
Il1rl1	T	A	1: 40,442,303		probably benign	Het
Kcna4	T	C	2: 107,296,618	Y566H	possibly damaging	Het
Kcnn2	T	C	18: 45,561,273	I175T	probably damaging	Het
Kcnt1	C	T	2: 25,901,865	T609I	probably damaging	Het
Kif3b	A	G	2: 153,317,274	R332G	probably damaging	Het
Mansc1	T	C	6: 134,621,837	D39G	probably damaging	Het
Med12	T	C	X: 101,288,342		probably benign	Het
Mmp1b	G	T	9: 7,384,935	T238K	probably benign	Het
Nav3	A	G	10: 109,759,036	S1435P	probably damaging	Het
Npc1l1	A	G	11: 6,228,157	S418P	probably benign	Het
Olfr125	T	C	17: 37,835,941	V314A	probably benign	Het
Olfr324	T	C	11: 58,597,582	V62A	possibly damaging	Het
Olfr401	A	G	11: 74,121,287		probably benign	Het
Olfr522	G	T	7: 140,162,694	D85E	probably benign	Het
Olfr628	A	G	7: 103,732,469	Y181C	probably damaging	Het
Olfr648	A	C	7: 104,180,225	M61R	probably damaging	Het
Olfr918	T	C	9: 38,673,415	T23A	probably damaging	Het
Otoa	A	G	7: 121,122,024	T421A	probably benign	Het
Otulin	G	A	15: 27,608,737	A42V	probably damaging	Het
Pcdhb1	T	A	18: 37,265,785	V263E	probably benign	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Phip	A	T	9: 82,893,370	V1053D	probably damaging	Het
Pkd1	G	A	17: 24,575,927	R2196H	probably benign	Het
Plin4	T	A	17: 56,102,131	Q1363L	probably damaging	Het
Pp2d1	C	A	17: 53,507,921	V592L	probably damaging	Het
Prkdc	T	G	16: 15,717,184	M1649R	probably benign	Het
Ptk2b	T	C	14: 66,213,482	K12E	probably benign	Het
Rars2	G	A	4: 34,657,219	V522I	probably damaging	Het
Rpgrip1	T	A	14: 52,147,374	N646K	possibly damaging	Het
Sars2	A	G	7: 28,752,525		probably benign	Het
Sgo2b	T	C	8: 63,931,282	T227A	possibly damaging	Het
Smc1b	T	C	15: 85,097,985	T703A	probably benign	Het
Stk32a	G	T	18: 43,313,507	D341Y	probably benign	Het
Thap11	T	C	8: 105,855,914	V185A	possibly damaging	Het
Ttll10	C	A	4: 156,048,433	V65F	probably benign	Het
Ube2q1	T	A	3: 89,780,462	N111K	possibly damaging	Het
Upf2	C	A	2: 6,026,323		probably benign	Het
Vasp	T	A	7: 19,257,712		probably benign	Het
Vmn2r104	C	T	17: 20,041,794	W358*	probably null	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Wdfy3	C	T	5: 101,898,510	G1826R	possibly damaging	Het
Wdr7	T	A	18: 63,777,545	Y669*	probably null	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
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
R0107:Wdr72	UTSW	9	74210433	missense	probably damaging	1.00
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

Posted On

2015-04-16