|Institutional Source||Beutler Lab|
|Gene Name||centromere protein H|
|Synonyms||2810046K12Rik, CENP-H, 2610042E16Rik, 1700021I11Rik, 2410018A12Rik, ENP|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7143 (G1)|
|Chromosomal Location||100759674-100775899 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 100761777 bp|
|Amino Acid Change||Valine to Alanine at position 206 (V206A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074988 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075550]|
|Predicted Effect||possibly damaging
AA Change: V206A
PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: V206A
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cenph||
(F):5'- TGGCGTACAGAAGAGACACTC -3'
(R):5'- AGGCAGAACTACTTAGATTCTGTC -3'
(F):5'- ATGCACATAGTCCTGAGCTG -3'
(R):5'- GTAAACATACAAACACACACATACAG -3'