Incidental Mutation 'IGL02869:Mcm3'
ID362452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcm3
Ensembl Gene ENSMUSG00000041859
Gene Nameminichromosome maintenance complex component 3
SynonymsP1, p1.m, Mcmd
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02869
Quality Score
Status
Chromosome1
Chromosomal Location20802968-20820312 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20808839 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 570 (K570R)
Ref Sequence ENSEMBL: ENSMUSP00000059192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053266]
Predicted Effect probably damaging
Transcript: ENSMUST00000053266
AA Change: K570R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059192
Gene: ENSMUSG00000041859
AA Change: K570R

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
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,867,459 S1142T possibly damaging Het
5330417C22Rik A G 3: 108,472,866 I309T probably benign Het
Actr3b T G 5: 25,832,435 V215G probably damaging Het
Adam9 C T 8: 24,970,618 V617M probably damaging Het
Adgrl2 G T 3: 148,890,605 P32T probably damaging Het
Ago3 A T 4: 126,367,787 probably benign Het
Allc A C 12: 28,573,207 I20M probably benign Het
Asic3 G A 5: 24,416,974 W361* probably null Het
Atf7ip A G 6: 136,606,579 K1203E probably damaging Het
Babam2 C A 5: 32,004,772 H272Q possibly damaging Het
Baz2b G A 2: 59,977,528 T129I probably benign Het
C130073F10Rik A T 4: 101,890,393 Y146* probably null Het
C530008M17Rik A G 5: 76,859,043 K1084E unknown Het
Cd247 A G 1: 165,857,417 E74G probably damaging Het
Cdh17 A T 4: 11,814,908 Q778L probably benign Het
Ceacam1 T C 7: 25,476,541 D76G probably benign Het
Cela3a T C 4: 137,403,834 K198E probably benign Het
Ces2a T A 8: 104,739,059 D281E probably damaging Het
Cetn2 A T X: 72,914,921 D116E probably damaging Het
Ctu2 G T 8: 122,478,791 probably null Het
Cybb T C X: 9,442,589 N469D probably benign Het
Cygb C T 11: 116,649,923 R79Q probably damaging Het
Cyp2d10 C T 15: 82,403,868 V186M possibly damaging Het
Defb29 T A 2: 152,539,022 probably null Het
Depdc7 T G 2: 104,730,349 Q100P probably damaging Het
Dhx30 A C 9: 110,097,183 I91R probably damaging Het
Dnm1l T A 16: 16,341,424 K105* probably null Het
Efhc1 T C 1: 20,967,343 I248T probably damaging Het
Entpd2 A G 2: 25,398,108 T115A probably damaging Het
Epb42 G T 2: 121,025,746 A439E probably benign Het
Epp13 T C 7: 6,269,899 probably benign Het
Esm1 T G 13: 113,210,084 L81R probably damaging Het
F8 T C X: 75,287,381 S968G probably benign Het
Fam234b T G 6: 135,225,203 Y308D probably damaging Het
Fbxo46 T G 7: 19,137,214 V586G probably damaging Het
Foxp1 C A 6: 98,930,083 probably benign Het
Gm10754 A T 10: 97,682,274 probably benign Het
Gm12355 T A 11: 98,625,320 R76* probably null Het
Gm12695 A C 4: 96,762,133 probably benign Het
Gm438 T C 4: 144,786,368 I54V probably benign Het
Gm5468 T C 15: 25,414,640 probably benign Het
Grhl1 T C 12: 24,581,491 S66P probably damaging Het
Gstt3 A T 10: 75,776,742 probably null Het
Gtf2i A G 5: 134,279,427 probably benign Het
Gzmk C A 13: 113,172,026 G175C probably damaging Het
Helz2 T C 2: 181,231,146 probably benign Het
Ift20 T C 11: 78,539,954 probably benign Het
Intu A G 3: 40,687,786 D491G probably damaging Het
Itch G T 2: 155,173,933 probably null Het
Itgb5 A G 16: 33,844,992 N26S possibly damaging Het
Lama2 A T 10: 27,015,538 S2526R probably damaging Het
Lat2 A G 5: 134,608,173 I40T probably damaging Het
Lipa T A 19: 34,493,997 M393L probably benign Het
Lipa G T 19: 34,493,971 probably benign Het
Lpcat1 T A 13: 73,484,298 L10H probably damaging Het
Lpcat3 T C 6: 124,703,007 Y348H possibly damaging Het
Lrp1b A T 2: 40,701,830 N50K unknown Het
Lrrk2 T A 15: 91,750,277 Y1415N probably damaging Het
Lsamp A T 16: 42,144,715 T312S probably benign Het
Man2a2 T C 7: 80,363,941 E454G probably benign Het
Mctp2 C A 7: 72,228,471 probably null Het
Msantd2 T G 9: 37,523,500 C345W probably damaging Het
Musk T C 4: 58,354,078 I362T probably benign Het
Myh15 A T 16: 49,145,404 N1224I probably benign Het
Myo18a A G 11: 77,864,786 Y1983C probably damaging Het
Myo18a C T 11: 77,829,873 probably benign Het
Myrfl G T 10: 116,829,004 Q374K probably damaging Het
Ndrg1 T A 15: 66,946,497 Q87H probably benign Het
Nol9 G A 4: 152,046,573 C351Y probably damaging Het
Nr5a1 A G 2: 38,708,129 S219P probably benign Het
Olfr902 T C 9: 38,449,193 F107S possibly damaging Het
Olfr945 A T 9: 39,258,224 Y149* probably null Het
Pcdhb19 A G 18: 37,498,637 D495G probably damaging Het
Pfkm A G 15: 98,128,242 M573V probably damaging Het
Plec A T 15: 76,181,316 L1586Q probably damaging Het
Prelp C A 1: 133,915,267 E47* probably null Het
Rbm33 T A 5: 28,410,755 I32N probably damaging Het
Rgs12 A T 5: 35,025,883 D310V probably damaging Het
Ripor2 A C 13: 24,696,529 H404P possibly damaging Het
Sh3d21 T C 4: 126,162,241 E124G probably benign Het
Shroom2 C T X: 152,659,553 S872N probably benign Het
Slc44a5 A G 3: 154,251,014 Y301C probably damaging Het
Smap1 A T 1: 23,891,914 H66Q possibly damaging Het
Smyd1 G T 6: 71,221,023 probably benign Het
Spata5 G T 3: 37,464,545 G743W probably damaging Het
Sptbn4 T A 7: 27,394,148 probably benign Het
Stag3 A G 5: 138,282,693 K49R probably damaging Het
Stim1 C A 7: 102,268,551 A46E unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tbc1d19 A G 5: 53,835,217 T114A probably benign Het
Tln2 G A 9: 67,221,525 probably benign Het
Tmem2 T A 19: 21,811,877 D558E probably damaging Het
Trmt10a T A 3: 138,152,184 probably null Het
Vwde G A 6: 13,187,137 H784Y probably damaging Het
Zfp773 T C 7: 7,134,233 T121A probably benign Het
Other mutations in Mcm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Mcm3 APN 1 20804815 critical splice donor site probably null
IGL01061:Mcm3 APN 1 20814496 missense possibly damaging 0.86
IGL01488:Mcm3 APN 1 20813056 missense possibly damaging 0.90
IGL01609:Mcm3 APN 1 20814680 splice site probably benign
IGL02483:Mcm3 APN 1 20803572 missense possibly damaging 0.68
R0197:Mcm3 UTSW 1 20810105 missense probably damaging 1.00
R0462:Mcm3 UTSW 1 20805332 missense probably benign
R0467:Mcm3 UTSW 1 20804847 missense probably benign
R0669:Mcm3 UTSW 1 20804929 intron probably null
R1251:Mcm3 UTSW 1 20812672 nonsense probably null
R1599:Mcm3 UTSW 1 20820198 missense probably benign 0.08
R1764:Mcm3 UTSW 1 20805879 missense probably damaging 0.98
R2015:Mcm3 UTSW 1 20803580 missense probably damaging 0.98
R2140:Mcm3 UTSW 1 20813110 missense probably benign 0.00
R3033:Mcm3 UTSW 1 20808768 missense probably damaging 1.00
R4430:Mcm3 UTSW 1 20811993 nonsense probably null
R4513:Mcm3 UTSW 1 20810232 missense probably damaging 1.00
R4563:Mcm3 UTSW 1 20809645 missense probably benign
R4713:Mcm3 UTSW 1 20803577 missense probably benign
R4801:Mcm3 UTSW 1 20810156 missense probably damaging 0.99
R4802:Mcm3 UTSW 1 20810156 missense probably damaging 0.99
R4896:Mcm3 UTSW 1 20820256 utr 5 prime probably benign
R5035:Mcm3 UTSW 1 20803418 utr 3 prime probably benign
R5461:Mcm3 UTSW 1 20814437 missense probably benign 0.00
R5486:Mcm3 UTSW 1 20814894 missense probably damaging 1.00
R5531:Mcm3 UTSW 1 20803544 missense possibly damaging 0.46
R5759:Mcm3 UTSW 1 20808748 frame shift probably null
R5760:Mcm3 UTSW 1 20808748 frame shift probably null
R6505:Mcm3 UTSW 1 20803544 missense probably damaging 1.00
R6833:Mcm3 UTSW 1 20810096 missense possibly damaging 0.48
R6834:Mcm3 UTSW 1 20810096 missense possibly damaging 0.48
R7179:Mcm3 UTSW 1 20814857 missense probably damaging 0.98
X0062:Mcm3 UTSW 1 20820137 missense possibly damaging 0.49
Posted On2015-12-18