|Institutional Source||Beutler Lab|
|Gene Name||minichromosome maintenance complex component 3 associated protein|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5473 (G1)|
|Chromosomal Location||76468927-76515857 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 76502759 bp|
|Amino Acid Change||Leucine to Arginine at position 1407 (L1407R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000125960 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000170795]|
|Predicted Effect||probably damaging
AA Change: L1407R
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: L1407R
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3067|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a null allele die by E12. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mcm3ap||
(F):5'- TCTGGGACCCTGTATCCATATGG -3'
(R):5'- ACAGACAATGGCATTTACTTCG -3'
(F):5'- GGGACCCTGTATCCATATGGTATTTC -3'
(R):5'- GGCATTTACTTCGATCATCTCAGAG -3'