Incidental Mutation 'R6284:Zp1'
ID 508142
Institutional Source Beutler Lab
Gene Symbol Zp1
Ensembl Gene ENSMUSG00000024734
Gene Name zona pellucida glycoprotein 1
Synonyms
MMRRC Submission 044454-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6284 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 10891660-10897965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10893867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 446 (L446Q)
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: L446Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025641
Gene: ENSMUSG00000024734
AA Change: L446Q

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
Meta Mutation Damage Score 0.5675 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,324,437 (GRCm39) G16C probably damaging Het
Abca7 G A 10: 79,840,244 (GRCm39) V801I probably benign Het
Adgrl2 A T 3: 148,532,143 (GRCm39) L1030Q probably damaging Het
Akap1 T C 11: 88,735,394 (GRCm39) T423A possibly damaging Het
Anpep T A 7: 79,475,550 (GRCm39) D111V probably damaging Het
Atm T A 9: 53,356,676 (GRCm39) probably null Het
Atp5f1a T A 18: 77,866,168 (GRCm39) S106T probably benign Het
Atp5me T C 5: 108,581,925 (GRCm39) I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 (GRCm39) probably null Het
Bclaf1 T G 10: 20,197,906 (GRCm39) probably null Het
Bod1l A G 5: 41,976,130 (GRCm39) V1728A probably benign Het
Braf A G 6: 39,665,216 (GRCm39) F51L possibly damaging Het
Camsap2 A G 1: 136,232,175 (GRCm39) I140T possibly damaging Het
Ccdc24 A T 4: 117,726,850 (GRCm39) probably null Het
Cdh26 G C 2: 178,091,677 (GRCm39) G79R probably damaging Het
Cenpf A G 1: 189,384,939 (GRCm39) L2447P probably damaging Het
Cfap74 T C 4: 155,536,253 (GRCm39) F863L probably damaging Het
Clstn2 C T 9: 97,336,727 (GRCm39) G917S probably benign Het
Col6a6 A T 9: 105,604,426 (GRCm39) probably null Het
Cul5 G A 9: 53,535,035 (GRCm39) P596L probably damaging Het
Dst A T 1: 34,268,166 (GRCm39) R2863W probably damaging Het
Dthd1 A G 5: 62,971,384 (GRCm39) E69G possibly damaging Het
Elp1 A T 4: 56,762,281 (GRCm39) I1106K probably damaging Het
Erich2 T A 2: 70,370,028 (GRCm39) I402N probably damaging Het
Fam162b T C 10: 51,461,598 (GRCm39) K155R probably damaging Het
Fhip1a G A 3: 85,579,995 (GRCm39) P737S probably benign Het
Glb1l2 A T 9: 26,678,744 (GRCm39) S466T probably benign Het
Kazn G A 4: 141,844,508 (GRCm39) L402F probably benign Het
Kcnj13 A T 1: 87,314,608 (GRCm39) S205T probably damaging Het
Lama1 T A 17: 68,117,091 (GRCm39) V2462E probably damaging Het
Lce1b A C 3: 92,563,411 (GRCm39) C41G unknown Het
Lyar T A 5: 38,383,339 (GRCm39) W77R probably damaging Het
Marchf11 G A 15: 26,409,432 (GRCm39) R377Q probably benign Het
Mis18bp1 A G 12: 65,185,561 (GRCm39) F869L probably benign Het
Myom1 T A 17: 71,329,887 (GRCm39) Y6* probably null Het
Myzap T C 9: 71,466,207 (GRCm39) I150V probably benign Het
Nop14 C T 5: 34,798,835 (GRCm39) probably null Het
Oprl1 T A 2: 181,359,784 (GRCm39) probably benign Het
Pacsin1 T C 17: 27,927,478 (GRCm39) L432P probably damaging Het
Peak1 A G 9: 56,167,580 (GRCm39) L116P probably benign Het
Plcb2 C T 2: 118,547,782 (GRCm39) V482M probably benign Het
Pnliprp1 T A 19: 58,723,416 (GRCm39) I269N probably damaging Het
Pnpla7 C A 2: 24,906,630 (GRCm39) D664E possibly damaging Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Rps6kb2 G T 19: 4,211,186 (GRCm39) T113K probably benign Het
Rrp7a A T 15: 83,006,061 (GRCm39) I63N probably damaging Het
Slc29a1 A G 17: 45,900,847 (GRCm39) probably null Het
Slco1a7 T C 6: 141,671,119 (GRCm39) D451G probably damaging Het
Stxbp5 C A 10: 9,642,931 (GRCm39) G1056V probably damaging Het
Stxbp5 A C 10: 9,642,923 (GRCm39) S1059A probably benign Het
Taldo1 T A 7: 140,978,496 (GRCm39) S149T possibly damaging Het
Tlr1 T C 5: 65,084,442 (GRCm39) D45G possibly damaging Het
Tnrc6a T C 7: 122,770,558 (GRCm39) S783P probably damaging Het
Trap1 A G 16: 3,878,673 (GRCm39) Y220H probably benign Het
Trpc6 A G 9: 8,643,601 (GRCm39) D462G possibly damaging Het
Ttc21a A G 9: 119,773,028 (GRCm39) E235G probably damaging Het
Tubb4a A G 17: 57,387,833 (GRCm39) Y398H probably damaging Het
Ube2z A G 11: 95,941,233 (GRCm39) F303S probably damaging Het
Vmn1r211 A G 13: 23,036,254 (GRCm39) S138P probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp93 T A 7: 23,975,054 (GRCm39) C346* probably null Het
Zfp938 A T 10: 82,063,400 (GRCm39) S52R 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
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
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'- TGAAGCGCTGATAGTGGGAC -3'
(R):5'- CTAAAGCCTTACAGCCTGTCC -3'

Sequencing Primer
(F):5'- TCTGTAGTTGTCACCCTTGAAAG -3'
(R):5'- CTGTCCCAGGCTCACAAG -3'
Posted On 2018-03-15