Incidental Mutation 'R0504:Zp1'
ID 47417
Institutional Source Beutler Lab
Gene Symbol Zp1
Ensembl Gene ENSMUSG00000024734
Gene Name zona pellucida glycoprotein 1
Synonyms
MMRRC Submission 038699-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0504 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 10891660-10897965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10893571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 31 (N31I)
Ref Sequence ENSEMBL: ENSMUSP00000128543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025641] [ENSMUST00000168708]
AlphaFold Q62005
Predicted Effect probably benign
Transcript: ENSMUST00000025641
AA Change: N512I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000025641
Gene: ENSMUSG00000024734
AA Change: N512I

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000168708
AA Change: N31I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128543
Gene: ENSMUSG00000024734
AA Change: N31I

DomainStartEndE-ValueType
Pfam:Zona_pellucida 3 61 5.6e-8 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 99% (145/147)
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: 145 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,128,057 (GRCm39) probably benign Het
Adamts6 T C 13: 104,563,438 (GRCm39) probably benign Het
Adamts9 T A 6: 92,889,626 (GRCm39) Y316F probably damaging Het
Agl A T 3: 116,580,433 (GRCm39) F374I probably damaging Het
Akr1c19 A G 13: 4,286,250 (GRCm39) T83A possibly damaging Het
Ankrd36 T A 11: 5,579,274 (GRCm39) S179R probably damaging Het
Appbp2 A G 11: 85,082,513 (GRCm39) S573P probably benign Het
Arid4a T A 12: 71,093,988 (GRCm39) F254I probably damaging Het
Bin3 T C 14: 70,361,336 (GRCm39) probably null Het
Bmi1 T C 2: 18,688,883 (GRCm39) probably null Het
Bmper G T 9: 23,317,983 (GRCm39) C534F probably damaging Het
Bora T A 14: 99,299,059 (GRCm39) C205* probably null Het
Btnl2 A G 17: 34,577,091 (GRCm39) E82G probably benign Het
Ccdc8 A T 7: 16,729,939 (GRCm39) D476V unknown Het
Ccr3 C A 9: 123,829,478 (GRCm39) T271K possibly damaging Het
Cd276 A G 9: 58,447,961 (GRCm39) L23P possibly damaging Het
Cd3e T C 9: 44,913,552 (GRCm39) Q61R probably benign Het
Cep97 A G 16: 55,726,142 (GRCm39) S582P probably benign Het
Chml A T 1: 175,514,748 (GRCm39) M391K probably damaging Het
Chst1 A G 2: 92,444,169 (GRCm39) N214D probably benign Het
Chuk T C 19: 44,070,377 (GRCm39) probably benign Het
Col12a1 G A 9: 79,588,750 (GRCm39) H1122Y possibly damaging Het
Cpne6 A G 14: 55,752,059 (GRCm39) K272R probably damaging Het
Cpsf2 T A 12: 101,956,262 (GRCm39) L355Q probably damaging Het
Cyp2c29 T A 19: 39,298,224 (GRCm39) D256E probably benign Het
Daglb G A 5: 143,479,952 (GRCm39) V420I probably benign Het
Ddx42 G T 11: 106,138,675 (GRCm39) G825C probably benign Het
Dis3 T C 14: 99,318,826 (GRCm39) probably benign Het
Dkk4 C T 8: 23,115,359 (GRCm39) R70C probably damaging Het
Dock6 G T 9: 21,713,732 (GRCm39) Q1933K probably damaging Het
Dpep2 T G 8: 106,716,620 (GRCm39) Q186H probably benign Het
Dzip3 A C 16: 48,780,006 (GRCm39) probably benign Het
Egflam T A 15: 7,252,239 (GRCm39) I853F probably damaging Het
Fastkd5 A G 2: 130,457,837 (GRCm39) I251T probably benign Het
Fbn2 T A 18: 58,172,532 (GRCm39) D2091V possibly damaging Het
Fem1al T C 11: 29,774,990 (GRCm39) I156V probably damaging Het
Fer1l4 C A 2: 155,894,115 (GRCm39) V63L probably benign Het
Frem1 T A 4: 82,830,874 (GRCm39) D2062V probably benign Het
Galnt6 A C 15: 100,594,538 (GRCm39) probably benign Het
Get3 A C 8: 85,745,236 (GRCm39) V277G probably damaging Het
Gm10972 A T 3: 94,550,440 (GRCm39) probably benign Het
Gm4846 G A 1: 166,319,114 (GRCm39) T208I probably benign Het
Gorab A G 1: 163,214,174 (GRCm39) L252P probably damaging Het
Gtsf2 A G 15: 103,352,988 (GRCm39) C63R probably damaging Het
Hal T C 10: 93,325,036 (GRCm39) V15A probably damaging Het
Hmcn1 A T 1: 150,752,170 (GRCm39) probably benign Het
Hormad2 A T 11: 4,358,833 (GRCm39) H191Q possibly damaging Het
Hspa2 A T 12: 76,451,990 (GRCm39) D228V probably damaging Het
Igfn1 A T 1: 135,896,267 (GRCm39) M1433K probably benign Het
Il18 A G 9: 50,486,628 (GRCm39) D19G probably damaging Het
Il1rl2 G A 1: 40,368,216 (GRCm39) V129I probably benign Het
Inpp5b C A 4: 124,676,201 (GRCm39) Y352* probably null Het
Insrr A T 3: 87,720,463 (GRCm39) M1034L possibly damaging Het
Jmjd1c T C 10: 67,061,534 (GRCm39) S1296P probably damaging Het
Kdm5b G T 1: 134,548,761 (GRCm39) probably null Het
Krba1 C T 6: 48,393,188 (GRCm39) T998I probably benign Het
L3mbtl4 A G 17: 69,084,907 (GRCm39) N606S probably benign Het
Lonrf1 T A 8: 36,698,313 (GRCm39) N395I possibly damaging Het
Lpp A G 16: 24,790,720 (GRCm39) D393G probably damaging Het
Lrrc17 A G 5: 21,765,528 (GRCm39) I3M probably benign Het
Lrrtm4 A T 6: 79,999,029 (GRCm39) Q147L probably damaging Het
Map1a A G 2: 121,133,422 (GRCm39) M1413V probably benign Het
Mapk8ip2 A G 15: 89,340,861 (GRCm39) E102G possibly damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mdn1 T C 4: 32,698,916 (GRCm39) probably benign Het
Mfng A C 15: 78,641,514 (GRCm39) H294Q probably benign Het
Mical2 T A 7: 111,870,524 (GRCm39) N4K probably benign Het
Mov10l1 T A 15: 88,883,042 (GRCm39) V384E probably damaging Het
Myo18b A G 5: 113,021,442 (GRCm39) probably benign Het
Nlrp1b T G 11: 71,073,241 (GRCm39) I201L probably damaging Het
Nos2 C T 11: 78,830,903 (GRCm39) P249L probably damaging Het
Notch4 A G 17: 34,794,065 (GRCm39) T681A probably damaging Het
Nr1i3 C T 1: 171,044,805 (GRCm39) probably benign Het
Obscn A G 11: 58,899,333 (GRCm39) probably null Het
Onecut2 A T 18: 64,473,820 (GRCm39) I124F possibly damaging Het
Or10a49 C T 7: 108,468,057 (GRCm39) M101I possibly damaging Het
Or2a14 A T 6: 43,130,395 (GRCm39) H52L probably benign Het
Or2ag1 T A 7: 106,313,908 (GRCm39) probably benign Het
Or2f2 C T 6: 42,767,530 (GRCm39) R186* probably null Het
Or2t47 C A 11: 58,442,462 (GRCm39) C201F probably damaging Het
Or4a75 A T 2: 89,448,438 (GRCm39) Y33N probably damaging Het
Or4c123 C T 2: 89,127,083 (GRCm39) C177Y probably damaging Het
Or52u1 C T 7: 104,237,682 (GRCm39) R224* probably null Het
Or5m12 T A 2: 85,735,030 (GRCm39) M123L possibly damaging Het
Or8b35 A G 9: 37,904,438 (GRCm39) T217A probably benign Het
Otol1 G A 3: 69,934,937 (GRCm39) G310R probably damaging Het
Oxct2b T A 4: 123,010,633 (GRCm39) S184R possibly damaging Het
Oxct2b ACTG A 4: 123,010,705 (GRCm39) probably benign Het
P2rx6 A G 16: 17,385,291 (GRCm39) probably benign Het
Pde4a A G 9: 21,115,699 (GRCm39) N411S probably damaging Het
Phkb A T 8: 86,783,153 (GRCm39) D983V probably benign Het
Piezo2 G A 18: 63,157,522 (GRCm39) T2396I probably damaging Het
Pik3ap1 T A 19: 41,275,929 (GRCm39) D717V probably damaging Het
Plce1 T A 19: 38,766,465 (GRCm39) probably benign Het
Plekhg1 A G 10: 3,887,853 (GRCm39) I261V probably damaging Het
Ppfia4 T C 1: 134,251,851 (GRCm39) H441R probably damaging Het
Prpf8 T A 11: 75,392,768 (GRCm39) probably benign Het
Ptn T A 6: 36,718,388 (GRCm39) probably benign Het
Ptpn13 A G 5: 103,649,362 (GRCm39) Y255C possibly damaging Het
Ptpn4 A G 1: 119,693,645 (GRCm39) Y126H probably damaging Het
Ptprc T C 1: 138,016,435 (GRCm39) N505D probably damaging Het
Ptprs T A 17: 56,761,220 (GRCm39) I116F possibly damaging Het
Rab1a T G 11: 20,173,169 (GRCm39) V90G probably damaging Het
Rcor1 T C 12: 111,068,102 (GRCm39) V267A probably benign Het
Reep4 A G 14: 70,784,678 (GRCm39) probably null Het
Rere T A 4: 150,699,779 (GRCm39) probably benign Het
Rin3 T A 12: 102,353,823 (GRCm39) Y743* probably null Het
Rprm A G 2: 53,975,067 (GRCm39) S84P probably damaging Het
Sdhaf2 C T 19: 10,494,383 (GRCm39) E109K probably damaging Het
Sec31b G T 19: 44,523,225 (GRCm39) Q24K probably damaging Het
Sema5a T C 15: 32,574,949 (GRCm39) probably benign Het
Sh3pxd2a T C 19: 47,256,186 (GRCm39) Y844C probably damaging Het
Shmt2 A C 10: 127,355,941 (GRCm39) N134K probably damaging Het
Slc9a8 C T 2: 167,266,125 (GRCm39) A34V probably benign Het
Spidr A C 16: 15,957,936 (GRCm39) S64A possibly damaging Het
Stk10 A G 11: 32,567,882 (GRCm39) T895A probably benign Het
Syne2 A T 12: 76,080,365 (GRCm39) probably benign Het
Szt2 T C 4: 118,230,149 (GRCm39) probably null Het
Tecpr1 A T 5: 144,150,899 (GRCm39) V303D probably damaging Het
Tet3 A G 6: 83,350,776 (GRCm39) Y1048H probably damaging Het
Tfb2m A G 1: 179,373,396 (GRCm39) C101R probably damaging Het
Tg T C 15: 66,554,253 (GRCm39) V556A probably damaging Het
Thbs4 A C 13: 92,903,692 (GRCm39) I441M probably benign Het
Thsd7a A T 6: 12,379,593 (GRCm39) Y944N probably damaging Het
Tm9sf3 C A 19: 41,236,331 (GRCm39) probably benign Het
Tmem145 T C 7: 25,010,787 (GRCm39) F359S probably damaging Het
Ttc21b C T 2: 66,053,142 (GRCm39) probably benign Het
Ttn A G 2: 76,579,880 (GRCm39) V23671A probably damaging Het
Txnl4b T C 8: 110,298,103 (GRCm39) I78T probably benign Het
Ubr4 C A 4: 139,133,889 (GRCm39) L762I probably damaging Het
Ubr4 T C 4: 139,208,149 (GRCm39) probably null Het
Ugt1a8 C T 1: 88,016,079 (GRCm39) P164L probably damaging Het
Unc13b T C 4: 43,263,559 (GRCm39) S1594P probably damaging Het
Utrn A T 10: 12,278,639 (GRCm39) F912I probably benign Het
Vat1l T C 8: 114,963,319 (GRCm39) probably benign Het
Vmn1r50 T A 6: 90,084,863 (GRCm39) S203T probably damaging Het
Vmn2r4 A T 3: 64,296,784 (GRCm39) L667Q probably damaging Het
Vmn2r66 T G 7: 84,656,023 (GRCm39) Q331P probably damaging Het
Wdsub1 A T 2: 59,708,669 (GRCm39) V68D possibly damaging Het
Wnk2 C G 13: 49,238,870 (GRCm39) A564P possibly damaging Het
Wnk2 T A 13: 49,238,872 (GRCm39) K563M probably damaging Het
Zan T A 5: 137,468,580 (GRCm39) H297L probably damaging Het
Zfp426 A T 9: 20,381,327 (GRCm39) H539Q probably damaging Het
Zfp488 T A 14: 33,692,497 (GRCm39) N222I probably damaging Het
Zfp536 T A 7: 37,268,243 (GRCm39) H391L probably damaging Het
Other mutations in Zp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGTCCCCGACACTTGATAACAGCC -3'
(R):5'- AGTGACTATCCCCTTGTGAGACTGC -3'

Sequencing Primer
(F):5'- CAATCCAGAAACTGGAATCTTAAGTG -3'
(R):5'- CAATGGCCTATTCTGTCAGATG -3'
Posted On 2013-06-12