Mutagenetix > Incidental Mutation

Incidental Mutation 'R6862:Zp1'

535727

Institutional Source

Beutler Lab

Gene Symbol

Zp1

Ensembl Gene

ENSMUSG00000024734

Gene Name

zona pellucida glycoprotein 1

Synonyms

MMRRC Submission

045026-MU

Accession Numbers

Essential gene?

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

Stock #

R6862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10891660-10897965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10893877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 443 (V443I)

Ref Sequence

ENSEMBL: ENSMUSP00000025641 (fasta)

Gene Model

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

AlphaFold

Q62005

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025641
AA Change: V443I

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025641
Gene: ENSMUSG00000024734
AA Change: V443I

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

0.2724

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (57/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,891,949 (GRCm39)		probably benign	Het
Adgra2	T	A	8: 27,603,465 (GRCm39)	C417S	probably damaging	Het
Adgra2	C	A	8: 27,603,464 (GRCm39)	H416Q	probably benign	Het
Aff3	C	A	1: 38,445,578 (GRCm39)	R307L	possibly damaging	Het
Arhgap17	T	C	7: 122,921,124 (GRCm39)	D121G	probably damaging	Het
Ascc3	G	T	10: 50,725,742 (GRCm39)	R2155I	probably null	Het
Ccdc115	C	T	1: 34,478,364 (GRCm39)	S19N	possibly damaging	Het
Ccser2	T	C	14: 36,662,038 (GRCm39)	N382S	probably benign	Het
Cct6b	A	T	11: 82,610,785 (GRCm39)	V500E	probably damaging	Het
Cenpo	A	T	12: 4,266,539 (GRCm39)	Y190N	probably damaging	Het
Cfh	T	A	1: 140,030,100 (GRCm39)	K924N	probably damaging	Het
Col4a1	A	G	8: 11,252,926 (GRCm39)		probably benign	Het
Coro1b	T	C	19: 4,200,770 (GRCm39)	V234A	probably benign	Het
Crot	T	C	5: 9,039,641 (GRCm39)	K69E	probably damaging	Het
Cyp2d11	A	T	15: 82,274,339 (GRCm39)	H347Q	probably benign	Het
Efcab3	A	T	11: 104,612,284 (GRCm39)	K636*	probably null	Het
Fbn2	T	A	18: 58,257,393 (GRCm39)	I325F	probably benign	Het
Fbxw4	T	A	19: 45,571,187 (GRCm39)	R41S	probably benign	Het
Fn1	T	A	1: 71,653,066 (GRCm39)	I1308F	probably benign	Het
Frem1	C	A	4: 82,930,251 (GRCm39)	E232*	probably null	Het
Gabrg3	T	C	7: 56,423,059 (GRCm39)	Q213R	possibly damaging	Het
Garin3	G	A	11: 46,298,418 (GRCm39)	G574D	possibly damaging	Het
Gsdme	A	T	6: 50,204,378 (GRCm39)	V193E	probably damaging	Het
Hadha	C	A	5: 30,352,977 (GRCm39)		probably null	Het
Hdgfl2	C	A	17: 56,406,211 (GRCm39)	A533E	probably damaging	Het
Hivep2	T	C	10: 14,006,327 (GRCm39)	F975S	probably damaging	Het
Htatip2	T	A	7: 49,420,666 (GRCm39)	S171T	probably benign	Het
Ift57	A	T	16: 49,584,167 (GRCm39)	I307F	possibly damaging	Het
Il22	A	T	10: 118,041,715 (GRCm39)	R110W	probably benign	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif2b	G	A	11: 91,466,741 (GRCm39)	T514M	probably damaging	Het
Kmt2c	A	C	5: 25,515,515 (GRCm39)	I2776S	probably damaging	Het
Ly9	T	C	1: 171,428,723 (GRCm39)	D189G	probably benign	Het
Mal2	T	C	15: 54,451,753 (GRCm39)	V58A	probably damaging	Het
Mettl21e	T	A	1: 44,245,526 (GRCm39)	N240I	probably benign	Het
Msantd5f1	A	G	4: 73,605,621 (GRCm39)	N344S	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nacc1	G	A	8: 85,399,844 (GRCm39)	R458C	probably damaging	Het
Ncapd3	T	C	9: 26,942,105 (GRCm39)	C14R	probably damaging	Het
Obscn	G	T	11: 58,886,279 (GRCm39)		probably benign	Het
Or13c3	A	G	4: 52,855,695 (GRCm39)	F273L	probably benign	Het
Or1j4	A	T	2: 36,740,234 (GRCm39)	M59L	possibly damaging	Het
Or8d23	T	A	9: 38,841,772 (GRCm39)	F102I	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pde4dip	C	A	3: 97,674,340 (GRCm39)	R192L	possibly damaging	Het
Pdlim4	C	A	11: 53,946,674 (GRCm39)	E204D	probably damaging	Het
Phf3	T	C	1: 30,853,063 (GRCm39)	Q1049R	probably damaging	Het
Prr14l	A	G	5: 32,985,103 (GRCm39)	L1464P	probably damaging	Het
Psg25	C	T	7: 18,255,323 (GRCm39)	V398I	probably benign	Het
Ptprq	T	A	10: 107,522,086 (GRCm39)	N622Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Tex36	A	G	7: 133,189,002 (GRCm39)	L190P	probably benign	Het
Tk1	A	G	11: 117,707,320 (GRCm39)	C156R	probably damaging	Het
Tmem144	T	A	3: 79,739,406 (GRCm39)	M126L	probably benign	Het
Tmem208	G	A	8: 106,054,862 (GRCm39)		probably null	Het
Trappc13	T	C	13: 104,286,660 (GRCm39)	Q199R	probably damaging	Het
Trim30b	T	A	7: 104,012,960 (GRCm39)	K156N	probably damaging	Het
Trps1	A	G	15: 50,695,001 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,394,757 (GRCm39)	F329Y	possibly damaging	Het
Zbed5	T	G	5: 129,932,026 (GRCm39)	D658E	probably benign	Het
Zfyve28	T	G	5: 34,445,449 (GRCm39)	K11N	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
R3832:Zp1	UTSW	19	10,893,888 (GRCm39)	missense	probably damaging	1.00
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
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'- TGAAGAGAAGTCCAGAAGCCTC -3'
(R):5'- TGTGACTCAATCTGGACCCC -3'

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

Posted On

2018-10-18