Incidental Mutation 'R8412:Mcm3'
ID 652715
Institutional Source Beutler Lab
Gene Symbol Mcm3
Ensembl Gene ENSMUSG00000041859
Gene Name minichromosome maintenance complex component 3
Synonyms p1.m, Mcmd, P1
MMRRC Submission 067816-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8412 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 20873192-20890536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20886980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 142 (V142I)
Ref Sequence ENSEMBL: ENSMUSP00000059192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053266]
AlphaFold P25206
Predicted Effect probably benign
Transcript: ENSMUST00000053266
AA Change: V142I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059192
Gene: ENSMUSG00000041859
AA Change: V142I

DomainStartEndE-ValueType
MCM 109 654 N/A SMART
AAA 337 490 1.92e-4 SMART
coiled coil region 655 693 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik T A 1: 183,765,356 (GRCm39) R234S probably damaging Het
Ace T A 11: 105,870,092 (GRCm39) F806Y probably benign Het
Ak8 A G 2: 28,629,643 (GRCm39) T286A probably benign Het
Apba2 T A 7: 64,395,546 (GRCm39) F674Y probably damaging Het
Apob A G 12: 8,058,069 (GRCm39) I2184V probably benign Het
Arhgap23 C T 11: 97,356,854 (GRCm39) P884L probably benign Het
Atg2a T C 19: 6,294,554 (GRCm39) L90P probably damaging Het
Bhmt2 T A 13: 93,798,820 (GRCm39) I334F possibly damaging Het
Bmi1 C T 2: 18,689,114 (GRCm39) T266I probably damaging Het
Cdh26 A G 2: 178,104,517 (GRCm39) I301V probably damaging Het
Cenpx A T 11: 120,602,558 (GRCm39) H68Q unknown Het
Cnot10 T C 9: 114,439,738 (GRCm39) R524G probably benign Het
Cnpy1 A T 5: 28,414,206 (GRCm39) Y22* probably null Het
Csmd3 C T 15: 47,499,794 (GRCm39) R2114H Het
Defa29 T A 8: 21,816,062 (GRCm39) T102S probably benign Het
Fras1 T C 5: 96,744,711 (GRCm39) I582T probably benign Het
Gm14295 G A 2: 176,501,422 (GRCm39) C304Y probably damaging Het
Gucy2d T C 7: 98,093,046 (GRCm39) V141A possibly damaging Het
Ifi47 A C 11: 48,986,425 (GRCm39) Q64P probably damaging Het
Irx3 G T 8: 92,527,028 (GRCm39) S225R possibly damaging Het
Itpr1 A G 6: 108,340,581 (GRCm39) H289R probably benign Het
Lamc3 A G 2: 31,802,128 (GRCm39) D512G probably damaging Het
Med23 C A 10: 24,784,632 (GRCm39) F1200L probably benign Het
Ndst4 A T 3: 125,364,439 (GRCm39) D372V possibly damaging Het
Nob1 T A 8: 108,148,230 (GRCm39) K71* probably null Het
Ntrk3 A G 7: 78,005,897 (GRCm39) I488T probably benign Het
Pds5b G T 5: 150,643,424 (GRCm39) C82F probably damaging Het
Pkd1l3 T A 8: 110,360,022 (GRCm39) V969E possibly damaging Het
Ppme1 A T 7: 99,984,298 (GRCm39) N307K probably benign Het
Pus7l C T 15: 94,425,856 (GRCm39) C515Y probably benign Het
Rpp21 T A 17: 36,568,591 (GRCm39) H22L possibly damaging Het
Scamp3 T C 3: 89,088,525 (GRCm39) F244L probably damaging Het
Scgb1b7 A T 7: 31,412,379 (GRCm39) K52* probably null Het
Slc12a3 T C 8: 95,060,695 (GRCm39) I261T probably damaging Het
Slc19a3 C T 1: 82,992,533 (GRCm39) R396H probably damaging Het
Slc22a14 T C 9: 119,009,922 (GRCm39) I58V probably benign Het
Slc9a9 A C 9: 95,111,092 (GRCm39) T637P probably damaging Het
Snrnp40 T A 4: 130,278,316 (GRCm39) C274S possibly damaging Het
Sptbn1 A G 11: 30,088,457 (GRCm39) V905A probably damaging Het
Taok3 A G 5: 117,404,102 (GRCm39) D759G possibly damaging Het
Tas1r1 T C 4: 152,117,033 (GRCm39) I200M probably benign Het
Tnfrsf25 T C 4: 152,204,139 (GRCm39) V360A possibly damaging Het
Trim12a A T 7: 103,953,544 (GRCm39) M189K possibly damaging Het
Tspan32 T C 7: 142,559,695 (GRCm39) F41L probably benign Het
Tube1 T A 10: 39,021,657 (GRCm39) S301T possibly damaging Het
Usp8 T C 2: 126,584,578 (GRCm39) S596P probably benign Het
Virma T A 4: 11,521,261 (GRCm39) probably null Het
Vmn2r58 T C 7: 41,513,722 (GRCm39) D307G probably benign Het
Zeb2 T C 2: 44,888,964 (GRCm39) K327R probably damaging Het
Zfp54 C T 17: 21,654,910 (GRCm39) T468M probably benign Het
Zfp780b A T 7: 27,662,551 (GRCm39) I668N possibly 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
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
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'- CCTGAATTTAAACACTCACCCTTG -3'
(R):5'- TGTCCCTTCATTGACATCAGTG -3'

Sequencing Primer
(F):5'- TTGATACTGCCCCCAAGATG -3'
(R):5'- TTACACATGGATGCAGGGTAC -3'
Posted On 2020-10-20