|Institutional Source||Beutler Lab|
|Gene Name||centrin 3|
|Is this an essential gene?||Possibly essential (E-score: 0.567)|
|Stock #||R1982 (G1)|
|Chromosomal Location||81783077-81797155 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 81784697 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Glycine at position 25 (E25G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022009 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022009] [ENSMUST00000223793] [ENSMUST00000224433] [ENSMUST00000224574] [ENSMUST00000226007]|
AA Change: E25G
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: E25G
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cetn3||
(F):5'- GACATTGATTTAGGGGCAGTTCC -3'
(R):5'- GGACTCTCCCTTTAACTGGGTG -3'
(F):5'- GGCAGTTCCTTTATTTGCCAGGC -3'
(R):5'- GGTGAATGGAGAAGTTACACTTTCC -3'