|Institutional Source||Beutler Lab|
|Gene Name||phospholipase C, zeta 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0608 (G1)|
|Chromosomal Location||139989673-140041457 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 139990733 bp (GRCm38)|
|Amino Acid Change||Arginine to Histidine at position 590 (R590H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032356 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032356] [ENSMUST00000129986] [ENSMUST00000137148]|
AA Change: R590H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R590H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous knockout mice display normal spermatogenesis and sperm motility but are sub-fertile because of a failure to induce Ca2+ oscillations in oocytes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plcz1||
(F):5'- GTTTCCCTTAGCAGCCCAGCATAC -3'
(R):5'- TGTAGTTTCCTGGCTTGTGAACCC -3'
(F):5'- CAGAAAGAACATGTCTCTGCTG -3'
(R):5'- CTGGCTTGTGAACCCTGTTG -3'