|Institutional Source||Beutler Lab|
|Gene Name||minichromosome maintenance complex component 4|
|Synonyms||mCdc21, 19G, Cdc21, Mcmd4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6753 (G1)|
|Chromosomal Location||15623897-15637400 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 15629362 bp (GRCm38)|
|Amino Acid Change||Asparagine to Lysine at position 579 (N579K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023353 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023353]|
AA Change: N579K
PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: N579K
|Meta Mutation Damage Score||0.2294|
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this allele cause chromosomal instability as assessed by micronucleus levels in erythrocytes. Mice homozygous for a spontaneous allele exhibit early onset T cell acute lymphoblastic leukemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mcm4||
(F):5'- CAGATTCACGTCTAAGATTGAGC -3'
(R):5'- ATGTGTACAACCTGGTCCCC -3'
(F):5'- CCTTTGGAACTGCAGTTACCGAAG -3'
(R):5'- CAGAGGCCAGTACACGTCTG -3'