|Institutional Source||Beutler Lab|
|Gene Name||origin recognition complex, subunit 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8033 (G1)|
|Chromosomal Location||108579423-108614833 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 108605564 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 613 (Y613N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099805 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102744]|
|Predicted Effect||probably damaging
AA Change: Y613N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y613N
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Orc1||
(F):5'- AACTGAAGCCTGTCCATTGATTC -3'
(R):5'- AAAGGGCAAGCAACATTTCTC -3'
(F):5'- CTCTTACGGACTAGAAAGTGCCATG -3'
(R):5'- GGGCAAGCAACATTTCTCATTCC -3'