|Institutional Source||Beutler Lab|
|Gene Name||cyclin E1|
|Synonyms||CycE1, cyclin E|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4982 (G1)|
|Chromosomal Location||38097984-38107534 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 38100571 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Asparagine at position 196 (I196N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103658 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000108023] [ENSMUST00000124979] [ENSMUST00000130329]|
AA Change: I196N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I196N
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccne1||
(F):5'- ACCTGACACTGTCTACCTTAAC -3'
(R):5'- AGCCTTGCATAAAAGCAGTTAGC -3'
(F):5'- CACTGTCTACCTTAACTTAGAAGCG -3'
(R):5'- CTGTGTCAAAAGTCAGGCAAGTTC -3'