Incidental Mutation 'R4430:Mcm3'
ID 328544
Institutional Source Beutler Lab
Gene Symbol Mcm3
Ensembl Gene ENSMUSG00000041859
Gene Name minichromosome maintenance complex component 3
Synonyms p1.m, Mcmd, P1
MMRRC Submission 041700-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4430 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 20873192-20890536 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 20882217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 449 (L449*)
Ref Sequence ENSEMBL: ENSMUSP00000059192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053266]
AlphaFold P25206
Predicted Effect probably null
Transcript: ENSMUST00000053266
AA Change: L449*
SMART Domains Protein: ENSMUSP00000059192
Gene: ENSMUSG00000041859
AA Change: L449*

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Aak1 A G 6: 86,963,348 (GRCm39) N926S unknown Het
Ahi1 T A 10: 20,847,977 (GRCm39) C462S probably damaging Het
Ahnak A G 19: 8,980,404 (GRCm39) I563V probably benign Het
Ankrd55 G A 13: 112,459,717 (GRCm39) probably null Het
Bag3 A G 7: 128,125,647 (GRCm39) D22G probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col15a1 T C 4: 47,245,705 (GRCm39) F152S probably damaging Het
Cxcr2 T C 1: 74,198,004 (GRCm39) I166T probably benign Het
Dnah11 T C 12: 117,946,746 (GRCm39) I3113V probably benign Het
Gli2 T C 1: 118,764,974 (GRCm39) H1059R probably benign Het
Gm14412 C A 2: 177,007,625 (GRCm39) S90I probably benign Het
L1td1 A G 4: 98,625,388 (GRCm39) R528G probably benign Het
Mif4gd T C 11: 115,499,328 (GRCm39) T185A probably benign Het
Mphosph9 T C 5: 124,403,509 (GRCm39) S840G possibly damaging Het
Nherf4 C T 9: 44,161,041 (GRCm39) S175N probably benign Het
Nim1k C A 13: 120,174,078 (GRCm39) R272L possibly damaging Het
Or5b104 C T 19: 13,072,452 (GRCm39) V187I probably benign Het
Or6c213 T A 10: 129,574,130 (GRCm39) I219F probably damaging Het
Or8k32 A G 2: 86,368,731 (GRCm39) I176T probably damaging Het
Pax3 A G 1: 78,171,961 (GRCm39) V83A probably damaging Het
Pde3b C T 7: 114,133,905 (GRCm39) P974S probably damaging Het
Pglyrp3 T A 3: 91,938,798 (GRCm39) D324E probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Ryr2 A G 13: 11,750,413 (GRCm39) S1953P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox5 A G 6: 143,987,000 (GRCm39) I188T possibly damaging Het
Spata4 T C 8: 55,054,878 (GRCm39) I86T probably benign Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Stk10 T C 11: 32,483,552 (GRCm39) V50A possibly damaging Het
Sytl4 A G,T X: 132,849,972 (GRCm39) S338R probably damaging Homo
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem201 A C 4: 149,815,596 (GRCm39) V118G probably benign Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Ugt2b37 T C 5: 87,401,951 (GRCm39) M227V probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r73 A T 7: 85,519,449 (GRCm39) M503K probably benign Het
Zfp54 T G 17: 21,655,222 (GRCm39) V572G 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
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
Predicted Primers PCR Primer
(F):5'- TATAGGAACCATGAAGAAAACCTGC -3'
(R):5'- ACCGAGATCTTTGTCCCCTG -3'

Sequencing Primer
(F):5'- CCTGCTGTGATCCAAGAGCAGTAG -3'
(R):5'- GGCACACACATATATTTGCCTC -3'
Posted On 2015-07-21