Mutagenetix > Incidental Mutations

Incidental Mutation 'R5717:Wdr72'

451222

Institutional Source

Beutler Lab

Gene Symbol

Wdr72

Ensembl Gene

ENSMUSG00000044976

Gene Name

WD repeat domain 72

Synonyms

MMRRC Submission

043337-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R5717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74110356-74283308 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74148205 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 239 (Y239N)

Ref Sequence

ENSEMBL: ENSMUSP00000149349 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000055879
AA Change: Y239N

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

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: Y239N

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: Y239N

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

Meta Mutation Damage Score

0.4964

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (48/49)

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
4933411K16Rik	A	T	19: 42,053,045	H205L	probably benign	Het
Acss2	T	C	2: 155,561,153	L617S	probably damaging	Het
Adgrl4	T	C	3: 151,492,334	V77A	probably benign	Het
Adnp2	A	G	18: 80,128,264	S977P	probably benign	Het
Ankrd11	T	C	8: 122,892,638	K1492E	possibly damaging	Het
B4galt5	G	A	2: 167,306,629	R190C	probably damaging	Het
Bbs1	A	G	19: 4,897,326	V355A	possibly damaging	Het
Cenpj	GTTTT	GTTTTT	14: 56,553,521		probably null	Het
Ckap2	T	C	8: 22,175,047	E467G	probably damaging	Het
Cry1	A	T	10: 85,146,416	H355Q	probably damaging	Het
Cspg4	G	T	9: 56,885,798	M272I	probably benign	Het
Dicer1	T	A	12: 104,705,128	Y961F	probably damaging	Het
Dirc2	A	G	16: 35,719,429	F341L	probably benign	Het
Epha2	A	T	4: 141,322,071	M689L	probably benign	Het
Foxc1	C	T	13: 31,807,488	A94V	probably benign	Het
Fras1	T	C	5: 96,781,737	V4000A	possibly damaging	Het
Frmd8	G	T	19: 5,873,368		probably benign	Het
Gm5218	A	G	15: 81,499,277		noncoding transcript	Het
Gm7735	T	C	16: 89,169,542	L18P	unknown	Het
Hr	C	T	14: 70,566,176	T808I	probably benign	Het
Hyal6	T	C	6: 24,743,691	M462T	probably benign	Het
Igkv6-20	T	A	6: 70,336,428		probably benign	Het
Igkv8-27	T	A	6: 70,171,934	T59S	probably benign	Het
Itga11	A	G	9: 62,752,249	T428A	probably benign	Het
Klk1b16	A	G	7: 44,139,489	I49V	probably benign	Het
Matn2	G	T	15: 34,399,091	E375*	probably null	Het
Msgn1	T	C	12: 11,208,518	Y144C	probably damaging	Het
Myh1	A	G	11: 67,208,956	N564S	probably benign	Het
Mypn	A	G	10: 63,127,776	V972A	probably damaging	Het
Olfr1209	T	C	2: 88,910,022	I124V	possibly damaging	Het
Olfr235	A	G	19: 12,269,156	K309E	probably benign	Het
Olfr284	G	A	15: 98,340,365	A208V	probably benign	Het
Ppp2r5d	A	G	17: 46,687,894	S81P	probably damaging	Het
Ptgis	C	T	2: 167,208,364		probably benign	Het
Ptprr	A	G	10: 116,048,113	N25S	probably benign	Het
Rnf123	G	A	9: 108,067,424	T456I	probably damaging	Het
Rpl6l	T	C	10: 111,126,023		noncoding transcript	Het
Rps25	A	G	9: 44,408,750	Y23C	probably benign	Het
Sec24a	A	G	11: 51,707,210	V879A	probably benign	Het
Sema6a	G	A	18: 47,249,263	A739V	probably benign	Het
Senp6	A	T	9: 80,092,312	I4F	probably damaging	Het
Stoml3	A	T	3: 53,505,516	Q197L	probably damaging	Het
Ttn	T	A	2: 76,747,747	K24267N	probably damaging	Het
Vmn1r43	T	C	6: 89,869,923	S194G	probably damaging	Het
Vmn2r17	C	T	5: 109,427,274	T149I	possibly damaging	Het
Zfp423	A	T	8: 87,686,559		probably null	Het
Zfp759	T	A	13: 67,138,708	C114S	probably 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
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
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
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'- ACCTATGTTGGGTTAAACGTGAAAG -3'
(R):5'- TGAATGTTCTGAGCGTCGC -3'

Sequencing Primer
(F):5'- AACGTGAAAGGTTAAGTCTTGTG -3'
(R):5'- AGCGTCGCTCCCATCTGAG -3'

Posted On

2017-01-03