|Institutional Source||Beutler Lab|
|Gene Name||kizuna centrosomal protein|
|Synonyms||Plk1s1, LOC228730, Ncrna00153, Gm114|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5878 (G1)|
|Chromosomal Location||146855864-146970097 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 146889601 bp|
|Amino Acid Change||Serine to Leucine at position 337 (S337L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096884 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099278] [ENSMUST00000156232]|
|Predicted Effect||probably damaging
AA Change: S337L
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: S337L
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||99% (66/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous mutants with truncated C-term transcript were normal size and weight, bred normally with normal litter size, and no obvious defects during fetal or adult development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kiz||
(F):5'- GAACTCCATTCCTCGTTACAGG -3'
(R):5'- TGAGGACTGAACACTATCAACC -3'
(F):5'- CCTCGTTACAGGAAAGATTAAGTCC -3'
(R):5'- GGAGGCACTATGAAAATCAA -3'