|Institutional Source||Beutler Lab|
|Gene Name||centromere protein C1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7335 (G1)|
|Chromosomal Location||86012024-86065583 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 86034353 bp|
|Amino Acid Change||Lysine to Asparagine at position 557 (K557N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031170 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031170]|
|Predicted Effect||possibly damaging
AA Change: K557N
PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: K557N
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: This gene encodes a centromeric protein component of a nucleosome-associated complex that plays a central role in kinetochore protein assembly, mitotic progression and chromosome segregation. The human ortholog encodes a protein with DNA-binding activity, that associates constitutively to kinetochores throughout the cell cycle, as part of a prekinetochore complex, together with centromeric protein-A and centromeric protein-B. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cenpc1||
(F):5'- GCCAAACCAGCAAATTCTGAATGAG -3'
(R):5'- GGTGTCAGTATTCAGTGAGCC -3'
(F):5'- CCAGCAAATTCTGAATGAGAAAAAG -3'
(R):5'- GTCAGTATTCAGTGAGCCAGATC -3'