|Institutional Source||Beutler Lab|
|Gene Name||zona pellucida glycoprotein 1|
|Is this an essential gene?||Probably non essential (E-score: 0.084)|
|Stock #||R6284 (G1)|
|Chromosomal Location||10914287-10920632 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 10916503 bp|
|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]|
|Predicted Effect||probably damaging
AA Change: L446Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L446Q
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
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||
|Other mutations in Zp1||
(F):5'- TGAAGCGCTGATAGTGGGAC -3'
(R):5'- CTAAAGCCTTACAGCCTGTCC -3'
(F):5'- TCTGTAGTTGTCACCCTTGAAAG -3'
(R):5'- CTGTCCCAGGCTCACAAG -3'