|Institutional Source||Beutler Lab|
|Gene Name||centromere protein E|
|Synonyms||312kDa, CENP-E, Kif10, N-7 kinesin|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7573 (G1)|
|Chromosomal Location||135212537-135273611 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 135247459 bp|
|Amino Acid Change||Leucine to Glutamine at position 1558 (L1558Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057938 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062893] [ENSMUST00000197369]|
|Predicted Effect||probably damaging
AA Change: L1558Q
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L1558Q
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
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'- GACAAAACCCACTTCTGTGTG -3'
(R):5'- GGACCAAGTCTATACTCCTGCC -3'
(F):5'- GTGTGTGCCTCAGACCTAAC -3'
(R):5'- TTAAGGTTGCACCATGCCAG -3'