|Institutional Source||Beutler Lab|
|Gene Name||centromere protein E|
|Synonyms||312kDa, CENP-E, Kif10, N-7 kinesin|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R5521 (G1)|
|Chromosomal Location||135212537-135273611 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 135269065 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 2329 (S2329P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057938 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062893]|
|AlphaFold||no structure available at present|
AA Change: S2329P
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: S2329P
|Meta Mutation Damage Score||0.0765|
|Coding Region Coverage||
|Validation Efficiency||94% (72/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cenpe||
(F):5'- AGAGCTAGTTAAGGTTATCTGCCTG -3'
(R):5'- CGTCATGCAGTCAGAACTTTC -3'
(F):5'- GTACCAGATCAAGAGTCAGCCTG -3'
(R):5'- AGTTCTATCTATTAGGTATCTCTGGC -3'