Incidental Mutation 'R1279:Zp1'
ID 150990
Institutional Source Beutler Lab
Gene Symbol Zp1
Ensembl Gene ENSMUSG00000024734
Gene Name zona pellucida glycoprotein 1
Synonyms
MMRRC Submission 039345-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1279 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 10891660-10897965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10895941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 232 (S232P)
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: S232P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025641
Gene: ENSMUSG00000024734
AA Change: S232P

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.2%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Atp6v0d2 A T 4: 19,878,298 (GRCm39) M325K probably benign Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gm17305 TCTCCTCCTCCTCCTCCTCCTC TCTCCTCCTCCTCCTCCTC 11: 69,260,175 (GRCm39) probably benign Het
Mfap5 A G 6: 122,503,722 (GRCm39) probably null Het
Nrcam T C 12: 44,591,660 (GRCm39) probably null Het
Oas1a A G 5: 121,035,241 (GRCm39) probably null Het
Oat A T 7: 132,168,809 (GRCm39) L137H probably damaging Het
Or10h5 T C 17: 33,435,300 (GRCm39) Y6C possibly damaging Het
Or2n1c A G 17: 38,519,678 (GRCm39) I181V probably benign Het
Or5h17 G A 16: 58,820,501 (GRCm39) G151D possibly damaging Het
Padi3 T C 4: 140,530,888 (GRCm39) S45G probably benign Het
Pias1 A G 9: 62,799,427 (GRCm39) S488P probably damaging Het
Plxnb2 G A 15: 89,046,524 (GRCm39) T873I probably benign Het
Ppp4r2 A T 6: 100,842,879 (GRCm39) R176* probably null Het
Pramel51 C T 12: 88,142,650 (GRCm39) V323M probably benign Het
Prkdc A T 16: 15,508,146 (GRCm39) L932F probably damaging Het
Ros1 C A 10: 52,018,262 (GRCm39) A799S possibly damaging Het
Scn4a A T 11: 106,226,508 (GRCm39) I684N probably damaging Het
Sypl2 A G 3: 108,124,990 (GRCm39) F124L probably damaging Het
Tacr1 G T 6: 82,534,164 (GRCm39) E397* probably null Het
Vmn1r7 T C 6: 57,001,934 (GRCm39) T109A possibly 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
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'- TCTTAGGCTGCATACAAGGCAGTTC -3'
(R):5'- ACACTGGTCTCACTACGTTGTACCC -3'

Sequencing Primer
(F):5'- CATACAAGGCAGTTCAGCTAGATAG -3'
(R):5'- GTTGTACCCAGAACAGAGCTTC -3'
Posted On 2014-01-29