Incidental Mutation 'IGL01061:Mcm3'
ID 50165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcm3
Ensembl Gene ENSMUSG00000041859
Gene Name minichromosome maintenance complex component 3
Synonyms p1.m, Mcmd, P1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01061
Quality Score
Status
Chromosome 1
Chromosomal Location 20873192-20890536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20884720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 261 (I261N)
Ref Sequence ENSEMBL: ENSMUSP00000059192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053266]
AlphaFold P25206
Predicted Effect possibly damaging
Transcript: ENSMUST00000053266
AA Change: I261N

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059192
Gene: ENSMUSG00000041859
AA Change: I261N

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
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ankfy1 T A 11: 72,619,686 (GRCm39) C186* probably null Het
Ankmy1 A T 1: 92,798,696 (GRCm39) probably benign Het
B3gnt2 T A 11: 22,786,042 (GRCm39) E382V probably damaging Het
Carmil3 T G 14: 55,736,087 (GRCm39) S610A possibly damaging Het
Cfap70 T C 14: 20,497,693 (GRCm39) probably benign Het
Chek1 G A 9: 36,625,815 (GRCm39) R277C possibly damaging Het
Cpb1 T A 3: 20,320,680 (GRCm39) I92L probably benign Het
Ddx56 C T 11: 6,214,671 (GRCm39) probably null Het
Dicer1 A T 12: 104,672,586 (GRCm39) M887K probably null Het
Dnajc18 A G 18: 35,813,995 (GRCm39) probably benign Het
Dock2 A G 11: 34,596,653 (GRCm39) V401A probably damaging Het
Dock4 A C 12: 40,752,968 (GRCm39) N434T probably benign Het
Dync2i1 C A 12: 116,193,324 (GRCm39) A543S probably benign Het
Ehbp1l1 A T 19: 5,767,916 (GRCm39) M1129K probably benign Het
Fam83a A T 15: 57,849,771 (GRCm39) Y105F possibly damaging Het
Fnbp1 C A 2: 30,973,054 (GRCm39) D70Y probably damaging Het
Gtf3c2 A G 5: 31,325,698 (GRCm39) F414L possibly damaging Het
Kndc1 A T 7: 139,502,610 (GRCm39) E965D probably benign Het
Lrrc66 T C 5: 73,772,842 (GRCm39) K209E probably benign Het
Mier3 T A 13: 111,850,970 (GRCm39) probably benign Het
Muc6 T C 7: 141,234,720 (GRCm39) E669G probably damaging Het
Myh1 T A 11: 67,108,688 (GRCm39) M1368K probably benign Het
Nav1 A G 1: 135,378,368 (GRCm39) I1653T probably damaging Het
Nuak1 C A 10: 84,210,998 (GRCm39) L363F probably damaging Het
Or14j2 A G 17: 37,885,795 (GRCm39) I173T possibly damaging Het
Or52b1 A G 7: 104,978,589 (GRCm39) I270T possibly damaging Het
Or9i1 T C 19: 13,840,069 (GRCm39) V304A possibly damaging Het
Pkd1l3 A G 8: 110,365,338 (GRCm39) H1153R probably damaging Het
Poglut3 A G 9: 53,299,887 (GRCm39) probably benign Het
Ppp6r2 A T 15: 89,170,218 (GRCm39) probably benign Het
Prelid3b T C 2: 174,307,614 (GRCm39) probably null Het
Prrt3 T C 6: 113,474,731 (GRCm39) K164E possibly damaging Het
Rab22a T A 2: 173,530,003 (GRCm39) D60E probably damaging Het
Rab32 A G 10: 10,433,618 (GRCm39) L72P probably damaging Het
Samm50 A G 15: 84,086,455 (GRCm39) T225A probably benign Het
Snx27 T A 3: 94,436,287 (GRCm39) probably benign Het
Taf7 G A 18: 37,776,486 (GRCm39) T27M probably damaging Het
Tgm5 A T 2: 120,901,977 (GRCm39) C231S probably benign Het
Tll1 A G 8: 64,491,488 (GRCm39) probably null Het
Tmem150a A G 6: 72,334,101 (GRCm39) D61G probably damaging Het
Ttll8 G A 15: 88,801,453 (GRCm39) R412C possibly damaging Het
Ubr3 T A 2: 69,813,569 (GRCm39) D1293E probably benign Het
Utp20 T C 10: 88,606,566 (GRCm39) N1669D probably benign Het
Vmn2r28 A G 7: 5,491,183 (GRCm39) W355R probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfhx2 T A 14: 55,311,339 (GRCm39) N452Y possibly damaging Het
Zfp180 T G 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Other mutations in Mcm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Mcm3 APN 1 20,875,039 (GRCm39) critical splice donor site probably null
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
R4563:Mcm3 UTSW 1 20,879,869 (GRCm39) missense probably benign
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
Posted On 2013-06-21