Mutagenetix > Incidental Mutation

Incidental Mutation 'R3832:Zp1'

274086

Institutional Source

Beutler Lab

Gene Symbol

Zp1

Ensembl Gene

ENSMUSG00000024734

Gene Name

zona pellucida glycoprotein 1

Synonyms

MMRRC Submission

040887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R3832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10891660-10897965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10893888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 439 (D439G)

Ref Sequence

ENSEMBL: ENSMUSP00000025641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025641] [ENSMUST00000168708]

AlphaFold

Q62005

Predicted Effect

probably damaging
Transcript: ENSMUST00000025641
AA Change: D439G

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

SMART Domains

Protein: ENSMUSP00000025641
Gene: ENSMUSG00000024734
AA Change: D439G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	184	199	N/A	INTRINSIC
PD	226	269	2.33e-11	SMART
ZP	271	542	1.55e-102	SMART
low complexity region	580	589	N/A	INTRINSIC
transmembrane domain	591	613	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168708

SMART Domains

Protein: ENSMUSP00000128543
Gene: ENSMUSG00000024734

Domain	Start	End	E-Value	Type
Pfam:Zona_pellucida	3	61	5.6e-8	PFAM

Meta Mutation Damage Score

0.5794

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]
PHENOTYPE: Female homozygous mutants produce oocytes with abnormal zona pellucida. Fecunditiy is significantly reduced, probably due to precocious hatching. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Aldh1a7	T	C	19: 20,685,602 (GRCm39)	Y316C	probably damaging	Het
Arhgef38	T	C	3: 132,912,686 (GRCm39)	R118G	possibly damaging	Het
Bcar3	A	G	3: 122,220,298 (GRCm39)	D65G	probably damaging	Het
Cacna1i	T	C	15: 80,240,388 (GRCm39)	F370S	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Cblc	T	C	7: 19,526,097 (GRCm39)	M238V	probably damaging	Het
Ccdc3	A	G	2: 5,233,953 (GRCm39)	N259S	probably benign	Het
Cep55	A	G	19: 38,041,560 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,546,951 (GRCm39)	D757G	unknown	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Erich3	G	A	3: 154,467,998 (GRCm39)	V817M	probably damaging	Het
Gdf6	T	C	4: 9,844,568 (GRCm39)	S31P	probably benign	Het
Gtsf1	T	C	15: 103,333,902 (GRCm39)	I25V	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klhl28	C	A	12: 64,998,195 (GRCm39)	G433V	probably damaging	Het
Lipn	T	C	19: 34,046,933 (GRCm39)		probably null	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Or14c44	A	T	7: 86,062,401 (GRCm39)	Y277F	probably damaging	Het
Or14j5	T	C	17: 38,162,071 (GRCm39)	V196A	probably benign	Het
Otud1	G	C	2: 19,662,951 (GRCm39)	A27P	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pdzd7	A	T	19: 45,028,693 (GRCm39)	V150E	probably damaging	Het
Peak1	T	C	9: 56,165,667 (GRCm39)	S754G	probably benign	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Phlpp1	G	A	1: 106,320,327 (GRCm39)	E1441K	probably damaging	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pikfyve	G	A	1: 65,283,579 (GRCm39)	V739I	probably damaging	Het
Plcg1	T	G	2: 160,596,357 (GRCm39)	M651R	possibly damaging	Het
Prex2	T	C	1: 11,226,588 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rab11fip1	G	A	8: 27,642,774 (GRCm39)	T675I	probably benign	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Slc39a8	T	A	3: 135,554,894 (GRCm39)	C113S	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,292 (GRCm39)	S182G	probably damaging	Het
Tecta	A	C	9: 42,250,329 (GRCm39)	F1816C	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Trim47	T	C	11: 115,998,783 (GRCm39)	T279A	probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Vcam1	T	C	3: 115,908,140 (GRCm39)	T641A	possibly damaging	Het
Vmn1r16	A	G	6: 57,300,212 (GRCm39)	F137L	probably benign	Het
Vmn2r17	T	A	5: 109,576,262 (GRCm39)	W378R	probably damaging	Het
Zfp777	T	C	6: 48,021,149 (GRCm39)	T158A	probably benign	Het

Other mutations in Zp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Zp1	APN	19	10,896,141 (GRCm39)	missense	probably damaging	1.00
IGL01504:Zp1	APN	19	10,896,375 (GRCm39)	missense	probably damaging	0.99
IGL02260:Zp1	APN	19	10,894,078 (GRCm39)	unclassified	probably benign
IGL02465:Zp1	APN	19	10,897,851 (GRCm39)	missense	probably benign	0.09
IGL02634:Zp1	APN	19	10,896,871 (GRCm39)	unclassified	probably benign
IGL02714:Zp1	APN	19	10,895,976 (GRCm39)	missense	probably damaging	1.00
IGL03234:Zp1	APN	19	10,892,187 (GRCm39)	splice site	probably benign
IGL03404:Zp1	APN	19	10,891,825 (GRCm39)	unclassified	probably benign
R0504:Zp1	UTSW	19	10,893,571 (GRCm39)	missense	probably damaging	0.98
R0554:Zp1	UTSW	19	10,897,926 (GRCm39)	missense	probably benign	0.29
R1028:Zp1	UTSW	19	10,896,275 (GRCm39)	missense	probably benign	0.01
R1279:Zp1	UTSW	19	10,895,941 (GRCm39)	missense	probably damaging	1.00
R1460:Zp1	UTSW	19	10,896,242 (GRCm39)	missense	probably benign
R3425:Zp1	UTSW	19	10,895,956 (GRCm39)	missense	probably benign	0.00
R4420:Zp1	UTSW	19	10,892,124 (GRCm39)	splice site	probably null
R4669:Zp1	UTSW	19	10,896,269 (GRCm39)	missense	probably benign	0.31
R4849:Zp1	UTSW	19	10,896,198 (GRCm39)	missense	possibly damaging	0.90
R5134:Zp1	UTSW	19	10,897,926 (GRCm39)	missense	probably benign	0.29
R5170:Zp1	UTSW	19	10,897,918 (GRCm39)	missense	possibly damaging	0.56
R5510:Zp1	UTSW	19	10,896,769 (GRCm39)	missense	probably damaging	1.00
R6284:Zp1	UTSW	19	10,893,867 (GRCm39)	missense	probably damaging	1.00
R6307:Zp1	UTSW	19	10,894,084 (GRCm39)	missense	probably null	0.45
R6378:Zp1	UTSW	19	10,892,217 (GRCm39)	missense	probably benign	0.15
R6608:Zp1	UTSW	19	10,896,344 (GRCm39)	missense	possibly damaging	0.93
R6697:Zp1	UTSW	19	10,892,199 (GRCm39)	missense	probably benign	0.05
R6862:Zp1	UTSW	19	10,893,877 (GRCm39)	missense	possibly damaging	0.84
R7054:Zp1	UTSW	19	10,896,104 (GRCm39)	missense	probably damaging	0.98
R7253:Zp1	UTSW	19	10,893,933 (GRCm39)	missense	probably damaging	0.99
R7483:Zp1	UTSW	19	10,895,280 (GRCm39)	missense	possibly damaging	0.72
R7591:Zp1	UTSW	19	10,896,835 (GRCm39)	missense	probably damaging	1.00
R8857:Zp1	UTSW	19	10,893,888 (GRCm39)	missense	probably damaging	1.00
Z1176:Zp1	UTSW	19	10,895,278 (GRCm39)	missense	probably damaging	1.00
Z1177:Zp1	UTSW	19	10,895,968 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGAAGTCCAGAAGCCTCTTTAAG -3'
(R):5'- TGTGACTCAATCTGGACCCC -3'

Sequencing Primer
(F):5'- CTCTTTAAGGAGGCGTGGCAG -3'
(R):5'- ACTCAATCTGGACCCCTGAGG -3'

Posted On

2015-04-02