Incidental Mutation 'R6697:Zp1'
ID 528632
Institutional Source Beutler Lab
Gene Symbol Zp1
Ensembl Gene ENSMUSG00000024734
Gene Name zona pellucida glycoprotein 1
Synonyms
MMRRC Submission 044815-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6697 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 10891660-10897965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10892199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 62 (I62L)
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: I543L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025641
Gene: ENSMUSG00000024734
AA Change: I543L

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
AA Change: I62L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128543
Gene: ENSMUSG00000024734
AA Change: I62L

DomainStartEndE-ValueType
Pfam:Zona_pellucida 3 61 5.6e-8 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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
Adgb G T 10: 10,281,870 (GRCm39) S562* probably null Het
Arhgap9 T C 10: 127,157,989 (GRCm39) F2S probably benign Het
C2cd6 ATGTGGCCTGTCTTCT A 1: 59,090,247 (GRCm39) probably benign Het
Clk1 A G 1: 58,453,781 (GRCm39) S298P probably benign Het
Col7a1 T A 9: 108,799,601 (GRCm39) L1834Q probably damaging Het
Dip2c T C 13: 9,671,949 (GRCm39) L1007P probably damaging Het
Erich3 G T 3: 154,469,907 (GRCm39) probably benign Het
Fam209 A G 2: 172,316,123 (GRCm39) E166G probably damaging Het
Fbxl4 A G 4: 22,376,599 (GRCm39) T12A probably benign Het
Grid2 C G 6: 63,908,031 (GRCm39) R224G possibly damaging Het
Grin2a T C 16: 9,487,704 (GRCm39) D398G possibly damaging Het
Hmx2 T C 7: 131,157,663 (GRCm39) L259P probably damaging Het
Macc1 A T 12: 119,410,991 (GRCm39) R586S possibly damaging Het
Map3k14 T C 11: 103,117,890 (GRCm39) E634G probably benign Het
Mettl21e G T 1: 44,249,327 (GRCm39) L110I probably damaging Het
Mgst1 A G 6: 138,124,751 (GRCm39) I22V probably damaging Het
Muc16 T C 9: 18,552,587 (GRCm39) T4569A probably benign Het
Neu4 A G 1: 93,952,752 (GRCm39) K374E probably benign Het
Nufip1 A G 14: 76,370,513 (GRCm39) T405A probably benign Het
Rilpl2 C T 5: 124,607,843 (GRCm39) E126K probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Tial1 G T 7: 128,046,593 (GRCm39) Q68K possibly damaging Het
Znrd2 A G 19: 5,780,458 (GRCm39) L180P 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
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'- CCCCTGGAGAGCTTACAATATC -3'
(R):5'- AGTATAGGGCAGCTGTGGTC -3'

Sequencing Primer
(F):5'- TTACAATATCCAGGGCCCGGAG -3'
(R):5'- TCCCTGCACTAACACAGCTCTG -3'
Posted On 2018-07-24