Incidental Mutation 'R4563:Mcm3'
ID 343176
Institutional Source Beutler Lab
Gene Symbol Mcm3
Ensembl Gene ENSMUSG00000041859
Gene Name minichromosome maintenance complex component 3
Synonyms p1.m, Mcmd, P1
MMRRC Submission 041788-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4563 (G1)
Quality Score 99
Status Validated
Chromosome 1
Chromosomal Location 20873192-20890536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 20879869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 543 (R543S)
Ref Sequence ENSEMBL: ENSMUSP00000059192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053266]
AlphaFold P25206
Predicted Effect probably benign
Transcript: ENSMUST00000053266
AA Change: R543S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059192
Gene: ENSMUSG00000041859
AA Change: R543S

DomainStartEndE-ValueType
MCM 109 654 N/A SMART
AAA 337 490 1.92e-4 SMART
coiled coil region 655 693 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191061
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (40/40)
MGI Phenotype 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
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,382,089 (GRCm39) C591R probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Calm5 C A 13: 3,904,402 (GRCm39) S32* probably null Het
Ccdc198 T A 14: 49,471,955 (GRCm39) M152L probably benign Het
Cln3 G T 7: 126,171,730 (GRCm39) S346R probably damaging Het
G6pd2 G A 5: 61,967,686 (GRCm39) R487H possibly damaging Het
Glipr2 A T 4: 43,977,600 (GRCm39) N77Y probably damaging Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Kbtbd2 A G 6: 56,766,264 (GRCm39) V37A probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Mgat4a T C 1: 37,505,660 (GRCm39) D43G probably damaging Het
Mphosph8 T C 14: 56,928,457 (GRCm39) Y703H probably benign Het
Ncf2 T C 1: 152,683,976 (GRCm39) probably benign Het
Nek6 T G 2: 38,475,305 (GRCm39) V282G probably damaging Het
Nhlrc1 T C 13: 47,167,666 (GRCm39) D197G possibly damaging Het
Nup93 G T 8: 95,034,520 (GRCm39) V612F probably damaging Het
Or5be3 C T 2: 86,864,028 (GRCm39) C179Y probably damaging Het
Or9i14 A G 19: 13,792,646 (GRCm39) F103L probably benign Het
Pafah1b2 T C 9: 45,887,404 (GRCm39) K36E probably damaging Het
Paqr9 A G 9: 95,442,997 (GRCm39) E329G probably benign Het
Pclo A G 5: 14,571,383 (GRCm39) Q256R probably damaging Het
Pctp A T 11: 89,879,578 (GRCm39) D94E probably benign Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Pex14 A T 4: 149,126,225 (GRCm39) V41D probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rasal2 T C 1: 157,003,561 (GRCm39) K366R probably damaging Het
Rprd1a A C 18: 24,640,160 (GRCm39) probably null Het
Senp8 A C 9: 59,657,546 (GRCm39) M1R probably null Het
Slc49a4 T C 16: 35,518,312 (GRCm39) Y467C probably damaging Het
Slco1b2 A G 6: 141,616,893 (GRCm39) T409A probably benign Het
Strc T C 2: 121,196,286 (GRCm39) T1581A probably benign Het
Tmem117 T C 15: 94,536,035 (GRCm39) I23T possibly damaging Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Ube4b A G 4: 149,443,622 (GRCm39) probably benign Het
Vmn1r125 A G 7: 21,006,308 (GRCm39) T69A probably damaging Het
Other mutations in Mcm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Mcm3 APN 1 20,875,039 (GRCm39) critical splice donor site probably null
IGL01061:Mcm3 APN 1 20,884,720 (GRCm39) missense possibly damaging 0.86
IGL01488:Mcm3 APN 1 20,883,280 (GRCm39) missense possibly damaging 0.90
IGL01609:Mcm3 APN 1 20,884,904 (GRCm39) splice site probably benign
IGL02483:Mcm3 APN 1 20,873,796 (GRCm39) missense possibly damaging 0.68
IGL02869:Mcm3 APN 1 20,879,063 (GRCm39) missense probably damaging 0.99
R0197:Mcm3 UTSW 1 20,880,329 (GRCm39) missense probably damaging 1.00
R0462:Mcm3 UTSW 1 20,875,556 (GRCm39) missense probably benign
R0467:Mcm3 UTSW 1 20,875,071 (GRCm39) missense probably benign
R0669:Mcm3 UTSW 1 20,875,153 (GRCm39) splice site probably null
R1251:Mcm3 UTSW 1 20,882,896 (GRCm39) nonsense probably null
R1599:Mcm3 UTSW 1 20,890,422 (GRCm39) missense probably benign 0.08
R1764:Mcm3 UTSW 1 20,876,103 (GRCm39) missense probably damaging 0.98
R2015:Mcm3 UTSW 1 20,873,804 (GRCm39) missense probably damaging 0.98
R2140:Mcm3 UTSW 1 20,883,334 (GRCm39) missense probably benign 0.00
R3033:Mcm3 UTSW 1 20,878,992 (GRCm39) missense probably damaging 1.00
R4430:Mcm3 UTSW 1 20,882,217 (GRCm39) nonsense probably null
R4513:Mcm3 UTSW 1 20,880,456 (GRCm39) missense probably damaging 1.00
R4713:Mcm3 UTSW 1 20,873,801 (GRCm39) missense probably benign
R4801:Mcm3 UTSW 1 20,880,380 (GRCm39) missense probably damaging 0.99
R4802:Mcm3 UTSW 1 20,880,380 (GRCm39) missense probably damaging 0.99
R4896:Mcm3 UTSW 1 20,890,480 (GRCm39) utr 5 prime probably benign
R5035:Mcm3 UTSW 1 20,873,642 (GRCm39) utr 3 prime probably benign
R5461:Mcm3 UTSW 1 20,884,661 (GRCm39) missense probably benign 0.00
R5486:Mcm3 UTSW 1 20,885,118 (GRCm39) missense probably damaging 1.00
R5531:Mcm3 UTSW 1 20,873,768 (GRCm39) missense possibly damaging 0.46
R5759:Mcm3 UTSW 1 20,878,972 (GRCm39) frame shift probably null
R5760:Mcm3 UTSW 1 20,878,972 (GRCm39) frame shift probably null
R6505:Mcm3 UTSW 1 20,873,768 (GRCm39) missense probably damaging 1.00
R6833:Mcm3 UTSW 1 20,880,320 (GRCm39) missense possibly damaging 0.48
R6834:Mcm3 UTSW 1 20,880,320 (GRCm39) missense possibly damaging 0.48
R7179:Mcm3 UTSW 1 20,885,081 (GRCm39) missense probably damaging 0.98
R7514:Mcm3 UTSW 1 20,876,120 (GRCm39) missense probably benign 0.19
R7673:Mcm3 UTSW 1 20,882,238 (GRCm39) missense probably damaging 1.00
R7689:Mcm3 UTSW 1 20,876,997 (GRCm39) missense probably benign 0.29
R7718:Mcm3 UTSW 1 20,887,498 (GRCm39) nonsense probably null
R8411:Mcm3 UTSW 1 20,886,980 (GRCm39) missense probably benign 0.00
R8412:Mcm3 UTSW 1 20,886,980 (GRCm39) missense probably benign 0.00
R8441:Mcm3 UTSW 1 20,884,690 (GRCm39) missense probably benign 0.06
R9265:Mcm3 UTSW 1 20,879,905 (GRCm39) missense probably damaging 0.98
R9325:Mcm3 UTSW 1 20,875,562 (GRCm39) missense probably benign 0.03
X0062:Mcm3 UTSW 1 20,890,361 (GRCm39) missense possibly damaging 0.49
Z1176:Mcm3 UTSW 1 20,890,405 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCTGAACTGAGTCAAGAGG -3'
(R):5'- ACATTTGTGAGGTCCATGTGTC -3'

Sequencing Primer
(F):5'- ACTGAGTCAAGAGGAGACATTATC -3'
(R):5'- GTGAGGTCCATGTGTCTCTTCC -3'
Posted On 2015-09-24