|Institutional Source||Beutler Lab|
|Gene Name||minichromosome maintenance 9 homologous recombination repair factor|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2172 (G1)|
|Chromosomal Location||53536315-53630439 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 53548574 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 640 (D640G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074978 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075540] [ENSMUST00000219547] [ENSMUST00000220007]|
AA Change: D640G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D640G
|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 is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for gene trap alleles display germ cell loss with reduced fertility or infertility and increased tumor incidence, particulary of hepatocellular carcinomas. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mcm9||
(F):5'- CAGCTGCCTTCTGTCTAAGC -3'
(R):5'- GTGTTCAAGGGACAATTACATCC -3'
(F):5'- TACCTGTCAACAAAGACATCTTGAG -3'
(R):5'- ACAAGTGTTATCCTGCTTCTTATTTG -3'