|Institutional Source||Beutler Lab|
|Gene Name||centromere protein C1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5222 (G1)|
|Chromosomal Location||86012024-86065583 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 86037747 bp|
|Amino Acid Change||Serine to Threonine at position 302 (S302T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031170 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031170]|
|Predicted Effect||possibly damaging
AA Change: S302T
PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: S302T
|Meta Mutation Damage Score||0.0862|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
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'- TAGGCTTAGACACTCTCCTCTGG -3'
(R):5'- AGTTCTGTGGTCAGGCACAC -3'
(F):5'- CAGGAGATCGACAATCATTTTCC -3'
(R):5'- ACACAGCAGCAGTTCCATTTTC -3'