Incidental Mutation 'R7483:Zp1'
ID 579969
Institutional Source Beutler Lab
Gene Symbol Zp1
Ensembl Gene ENSMUSG00000024734
Gene Name zona pellucida glycoprotein 1
Synonyms
MMRRC Submission 045557-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7483 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 10891660-10897965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10895280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 324 (L324P)
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: L324P

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025641
Gene: ENSMUSG00000024734
AA Change: L324P

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 benign
Transcript: ENSMUST00000168708
SMART Domains Protein: ENSMUSP00000128543
Gene: ENSMUSG00000024734

DomainStartEndE-ValueType
Pfam:Zona_pellucida 3 61 5.6e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,794,075 (GRCm39) probably null Het
Ahnak T C 19: 8,982,186 (GRCm39) S1157P probably damaging Het
Akap12 T G 10: 4,303,967 (GRCm39) V364G probably benign Het
Ankrd17 A G 5: 90,447,855 (GRCm39) S229P probably benign Het
Apof A T 10: 128,104,636 (GRCm39) Y5F probably benign Het
Arhgap24 T A 5: 102,989,174 (GRCm39) M94K probably benign Het
Ash2l G T 8: 26,312,798 (GRCm39) D479E probably damaging Het
Atp8a2 A T 14: 60,245,824 (GRCm39) C623S probably benign Het
Bmper T A 9: 23,395,238 (GRCm39) N656K probably benign Het
Braf T C 6: 39,604,772 (GRCm39) I619V possibly damaging Het
Brwd1 T C 16: 95,857,373 (GRCm39) R396G probably damaging Het
Car7 A T 8: 105,276,216 (GRCm39) T234S probably benign Het
Catsper4 A T 4: 133,945,552 (GRCm39) V169E probably damaging Het
Cemip T G 7: 83,647,784 (GRCm39) I99L probably damaging Het
Chrna7 C A 7: 62,754,738 (GRCm39) V290L probably damaging Het
Clip1 A T 5: 123,755,447 (GRCm39) D944E probably benign Het
Cplane2 A G 4: 140,947,153 (GRCm39) D178G probably damaging Het
Cyp2c68 T C 19: 39,677,581 (GRCm39) T470A probably benign Het
Dmbx1 G T 4: 115,780,908 (GRCm39) A31D probably damaging Het
Dnah7b T C 1: 46,214,579 (GRCm39) F1115L probably damaging Het
Dock10 T C 1: 80,493,283 (GRCm39) I1897V probably benign Het
Efcab3 A G 11: 105,000,112 (GRCm39) I234V probably benign Het
Eid2b T G 7: 27,977,243 (GRCm39) L13R probably damaging Het
Enam A G 5: 88,649,679 (GRCm39) Y396C probably damaging Het
Fam161a A T 11: 22,971,006 (GRCm39) T395S probably damaging Het
Fat1 A G 8: 45,476,197 (GRCm39) R1748G probably benign Het
Fdxacb1 C A 9: 50,681,451 (GRCm39) T124K possibly damaging Het
Fer1l6 A T 15: 58,513,794 (GRCm39) D1563V possibly damaging Het
Gm20834 T C Y: 10,323,226 (GRCm39) H70R probably damaging Het
Gucy2d T A 7: 98,098,964 (GRCm39) M261K probably damaging Het
Hcar2 T A 5: 124,002,861 (GRCm39) Q214L probably benign Het
Hdac11 C T 6: 91,136,214 (GRCm39) H75Y probably damaging Het
Hoxa2 C A 6: 52,141,279 (GRCm39) A116S probably benign Het
Ints2 A G 11: 86,106,444 (GRCm39) C989R probably damaging Het
Jpt1 T C 11: 115,393,950 (GRCm39) E36G probably damaging Het
Kdm5d G A Y: 914,044 (GRCm39) R327Q possibly damaging Het
Klhl1 T C 14: 96,584,304 (GRCm39) M309V probably benign Het
Larp4 A G 15: 99,889,659 (GRCm39) K193E probably benign Het
Lmo3 C T 6: 138,393,500 (GRCm39) C40Y probably damaging Het
Mcm4 A G 16: 15,448,306 (GRCm39) V417A probably benign Het
Med8 A G 4: 118,268,176 (GRCm39) E34G probably damaging Het
Mex3b G T 7: 82,517,114 (GRCm39) A86S possibly damaging Het
Muc6 T C 7: 141,224,245 (GRCm39) T1646A unknown Het
Myo15b A T 11: 115,749,570 (GRCm39) E113D Het
Myo7a T A 7: 97,712,881 (GRCm39) H1698L probably benign Het
Myocos T A 1: 162,484,678 (GRCm39) M44L unknown Het
Nalcn A G 14: 123,551,499 (GRCm39) V1036A probably damaging Het
Nfrkb C T 9: 31,325,328 (GRCm39) Q924* probably null Het
Nol6 A G 4: 41,117,424 (GRCm39) L923P possibly damaging Het
Nrxn3 T C 12: 89,477,232 (GRCm39) Y472H probably damaging Het
Nudcd1 A G 15: 44,269,253 (GRCm39) Y136H possibly damaging Het
Obox2 T C 7: 15,131,241 (GRCm39) C116R probably damaging Het
Onecut3 A T 10: 80,331,310 (GRCm39) S157C unknown Het
Or10ak11 A G 4: 118,687,517 (GRCm39) V39A probably damaging Het
Or11g27 T A 14: 50,771,472 (GRCm39) V201D probably benign Het
Or2d2b T A 7: 106,705,982 (GRCm39) I29F probably benign Het
Or4f15 T C 2: 111,814,124 (GRCm39) I98M probably damaging Het
Oscp1 C T 4: 125,967,726 (GRCm39) R91* probably null Het
Pclo A T 5: 14,762,606 (GRCm39) D408V Het
Pde8a T C 7: 80,932,581 (GRCm39) V81A probably benign Het
Pde8b T A 13: 95,164,251 (GRCm39) D653V probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Pik3cg T C 12: 32,245,647 (GRCm39) Y867C probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Psd4 A T 2: 24,294,768 (GRCm39) D776V possibly damaging Het
Ptprb A G 10: 116,119,334 (GRCm39) E156G probably benign Het
Rad54b A G 4: 11,610,372 (GRCm39) Y663C probably damaging Het
Ranbp3l T A 15: 9,030,955 (GRCm39) V78D possibly damaging Het
Rbm12 T C 2: 155,940,138 (GRCm39) I45V unknown Het
Scn9a A G 2: 66,363,692 (GRCm39) V862A probably damaging Het
Sdcbp T C 4: 6,393,089 (GRCm39) I242T possibly damaging Het
Slc25a24 A G 3: 109,066,751 (GRCm39) T302A probably damaging Het
Slc45a3 G T 1: 131,904,549 (GRCm39) probably benign Het
Srpk1 T C 17: 28,813,192 (GRCm39) I517M probably benign Het
Tmx4 A G 2: 134,481,581 (GRCm39) M114T probably benign Het
Trhr T A 15: 44,092,627 (GRCm39) V288D probably damaging Het
Tspoap1 A T 11: 87,652,351 (GRCm39) I42F probably benign Het
Ttn A T 2: 76,781,856 (GRCm39) D1063E unknown Het
Tusc3 A G 8: 39,538,635 (GRCm39) I225V probably benign Het
Ugt2b38 A G 5: 87,571,973 (GRCm39) S20P probably damaging Het
Upf2 A G 2: 6,032,219 (GRCm39) T922A unknown Het
Usp38 C T 8: 81,741,190 (GRCm39) probably benign Het
Vmn1r216 A G 13: 23,283,738 (GRCm39) I140M probably damaging Het
Vmn2r115 T A 17: 23,565,371 (GRCm39) N419K possibly damaging Het
Vmn2r55 C T 7: 12,404,755 (GRCm39) G216D probably benign Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wnt7b C A 15: 85,421,615 (GRCm39) R349L possibly damaging Het
Xbp1 T C 11: 5,471,098 (GRCm39) V35A probably benign Het
Zan A T 5: 137,445,057 (GRCm39) M1734K unknown Het
Zfhx4 A G 3: 5,477,237 (GRCm39) E3284G probably damaging Het
Zfp458 A G 13: 67,404,978 (GRCm39) L487S possibly damaging Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H 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
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
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
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'- AGATGAGTTGTTCGCCGACC -3'
(R):5'- AAAGGCCTGATCTACCTCTTG -3'

Sequencing Primer
(F):5'- TTGTTCGCCGACCACCTGAG -3'
(R):5'- GGACCTGCCTTTGTCCTAG -3'
Posted On 2019-10-07