Mutagenetix > Incidental Mutation

Incidental Mutation 'R4021:Wdr72'

313244

Institutional Source

Beutler Lab

Gene Symbol

Wdr72

Ensembl Gene

ENSMUSG00000044976

Gene Name

WD repeat domain 72

Synonyms

MMRRC Submission

040955-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R4021 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74110356-74283308 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74151593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 323 (V323I)

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: V335I

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: V335I

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: V323I

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0703

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,088	L102P	probably benign	Het
Adcy4	C	T	14: 55,775,178		probably null	Het
Adgrf5	A	T	17: 43,430,714		probably benign	Het
Atp11a	A	G	8: 12,842,938	K643R	probably benign	Het
Cacna2d2	C	T	9: 107,514,058	T428M	probably damaging	Het
Cdh22	T	C	2: 165,143,673	D331G	possibly damaging	Het
Chmp3	T	C	6: 71,574,238		probably null	Het
Csnk2a1	C	T	2: 152,258,689	T127M	probably damaging	Het
Cyp2c55	T	A	19: 39,035,434		probably null	Het
Ddias	G	T	7: 92,861,478	D105E	possibly damaging	Het
Dnajb11	A	G	16: 22,869,446	D238G	probably damaging	Het
Dock7	T	C	4: 99,003,920		probably null	Het
Dock9	T	C	14: 121,626,912	K761E	possibly damaging	Het
Entpd7	G	A	19: 43,691,158	R50Q	probably benign	Het
Fam107b	G	A	2: 3,778,474	R238Q	probably damaging	Het
Fam186a	G	C	15: 99,941,799	T2188S	possibly damaging	Het
Farsa	A	G	8: 84,868,870	T465A	probably damaging	Het
Fibp	T	C	19: 5,460,734		probably null	Het
Flywch2	G	A	17: 23,777,039	T128I	possibly damaging	Het
Foxi2	A	T	7: 135,410,530	D49V	probably damaging	Het
Fstl5	A	G	3: 76,628,975	T31A	probably benign	Het
Gabbr2	G	A	4: 46,846,435	T158I	probably damaging	Het
Gbp4	T	A	5: 105,120,923	R455W	probably damaging	Het
Gm11492	A	G	11: 87,567,280	E160G	probably damaging	Het
Got2	T	G	8: 95,877,753	D69A	probably damaging	Het
Gpr63	T	C	4: 25,008,470	F398S	possibly damaging	Het
Gtf2h4	T	C	17: 35,670,664	M186V	probably benign	Het
Haus2	A	T	2: 120,615,930	Q111L	probably damaging	Het
Hexdc	T	C	11: 121,218,161		probably null	Het
Igf2r	T	A	17: 12,748,751	N27I	probably damaging	Het
Itgax	T	A	7: 128,133,139		probably null	Het
Krit1	T	A	5: 3,832,132	I596K	probably benign	Het
Lair1	A	G	7: 4,055,916		probably null	Het
Lilra6	G	T	7: 3,911,418	T276K	probably benign	Het
Mast4	G	A	13: 102,739,321	R1112*	probably null	Het
Mrgprb1	A	T	7: 48,447,123	I347N	possibly damaging	Het
Mroh2b	T	A	15: 4,925,100	C682S	possibly damaging	Het
Mtif3	T	A	5: 146,955,678	R249S	possibly damaging	Het
Mycbp2	C	T	14: 103,152,157	E3406K	probably damaging	Het
Myo15b	A	G	11: 115,873,505	H1315R	probably benign	Het
Nlrp2	A	G	7: 5,325,012	F681L	probably benign	Het
Olfr1157	T	A	2: 87,962,722	T57S	possibly damaging	Het
Olfr703	T	A	7: 106,845,019	M136K	probably damaging	Het
Pear1	T	C	3: 87,756,222	N390D	possibly damaging	Het
Ranbp17	G	A	11: 33,479,189	A352V	probably benign	Het
Rnf17	C	T	14: 56,460,001	H451Y	probably damaging	Het
Sag	A	T	1: 87,821,305		probably null	Het
Slc22a2	T	C	17: 12,584,489	L70P	probably damaging	Het
Slc32a1	C	T	2: 158,611,232		probably benign	Het
Spag17	A	T	3: 100,049,230	I881F	probably benign	Het
Taar7a	G	T	10: 23,993,386	N32K	probably benign	Het
Tbck	C	A	3: 132,727,134	T435K	probably damaging	Het
Tril	T	G	6: 53,819,019	D406A	probably damaging	Het
Tshz2	G	A	2: 169,885,862	D324N	probably damaging	Het
Vps13d	A	G	4: 145,075,061	V2349A	possibly damaging	Het
Wdr6	A	G	9: 108,575,206	W493R	probably damaging	Het
Zfp488	T	A	14: 33,971,153	M18L	probably benign	Het
Zic4	A	G	9: 91,379,036	T108A	probably benign	Het
Znrf3	T	C	11: 5,281,278	D745G	possibly 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
Arresting	UTSW	9	74179501	splice site	probably benign
R0332_Wdr72_931	UTSW	9	74157252	critical splice acceptor site	probably null
R2036_Wdr72_658	UTSW	9	74151594	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
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
R8465:Wdr72	UTSW	9	74152448	missense	possibly damaging	0.93
R8968:Wdr72	UTSW	9	74152447	missense	probably benign	0.31
R9074:Wdr72	UTSW	9	74218620	missense	possibly damaging	0.86
R9336:Wdr72	UTSW	9	74210010	missense	probably damaging	1.00
R9643:Wdr72	UTSW	9	74210759	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

Predicted Primers

PCR Primer
(F):5'- GCAACTCACTCTCTGGAGCT -3'
(R):5'- TCGGTATTGGTGTCTGTACAAGT -3'

Sequencing Primer
(F):5'- ACTCTCTGGAGCTTAGTCCATG -3'
(R):5'- AGACACCAATGGCTTCTGTG -3'

Posted On

2015-04-30