|Institutional Source||Beutler Lab|
|Gene Name||minichromosome maintenance complex component 3|
|Synonyms||P1, p1.m, Mcmd|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2140 (G1)|
|Chromosomal Location||20802968-20820312 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 20813110 bp|
|Amino Acid Change||Valine to Alanine at position 295 (V295A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059192 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053266]|
|Predicted Effect||probably benign
AA Change: V295A
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: V295A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1264|
|Coding Region Coverage||
|Validation Efficiency||100% (96/96)|
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 involved in 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. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null or hypomorph alleles exhibit prenatal lethality. Fetal mice homozygous for a hypomorphic allele display anemia and replicative stress during fetal erythropoiesis. Mice heterozygous for null or hypomorph alleles display increased incidence of lymphomas. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mcm3||
(F):5'- TTAGTCTTCTGTACGTTGATGAGCC -3'
(R):5'- GTTTTGTGCCGTACGCTAC -3'
(F):5'- GTACGTTGATGAGCCTAGAATATGAC -3'
(R):5'- GTGCCGTACGCTACCTCTTTAC -3'