|Institutional Source||Beutler Lab|
|Gene Name||phospholipase C, zeta 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0599 (G1)|
|Chromosomal Location||139989673-140041457 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 140028542 bp (GRCm38)|
|Amino Acid Change||Glutamine to Leucine at position 58 (Q58L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032356 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032356] [ENSMUST00000129986] [ENSMUST00000137148] [ENSMUST00000149931]|
AA Change: Q58L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: Q58L
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (80/82)|
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'- TGCTTTCACAGTCAAGGATCGGAAC -3'
(R):5'- AAGTGGCATGGACCACATGGTG -3'
(F):5'- TCGGAACACTTCAGAAGTTCAG -3'
(R):5'- GAATACTGTGACGCTTCCTTTG -3'