Incidental Mutation 'IGL01746:Mcm6'
ID153031
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcm6
Ensembl Gene ENSMUSG00000026355
Gene Nameminichromosome maintenance complex component 6
SynonymsD1Wsu22e, Mcmd6
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01746
Quality Score
Status
Chromosome1
Chromosomal Location128331590-128359664 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 128353524 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 101 (R101*)
Ref Sequence ENSEMBL: ENSMUSP00000140308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027601] [ENSMUST00000190495]
Predicted Effect probably null
Transcript: ENSMUST00000027601
AA Change: R101*
SMART Domains Protein: ENSMUSP00000027601
Gene: ENSMUSG00000026355
AA Change: R101*

DomainStartEndE-ValueType
MCM 119 657 1.43e-270 SMART
PDB:2LE8|A 710 821 1e-47 PDB
Predicted Effect probably null
Transcript: ENSMUST00000190495
AA Change: R101*
SMART Domains Protein: ENSMUSP00000140308
Gene: ENSMUSG00000026355
AA Change: R101*

DomainStartEndE-ValueType
MCM 119 657 1.43e-270 SMART
PDB:2LE8|A 710 783 3e-29 PDB
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 essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the 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. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit increased micronulei-containing red blood cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 9,004,912 M1187V possibly damaging Het
Ctsm T C 13: 61,539,816 E76G probably benign Het
Ctsm T C 13: 61,538,903 probably benign Het
Egfl8 T C 17: 34,614,916 T63A probably damaging Het
Fat4 T A 3: 38,991,731 C3966* probably null Het
Fsd2 T C 7: 81,553,007 T275A probably benign Het
Fyb2 A T 4: 104,945,207 H102L probably benign Het
Galnt9 T C 5: 110,588,322 I168T probably damaging Het
Hc A G 2: 35,057,326 Y59H probably damaging Het
Khnyn T C 14: 55,886,982 V231A probably benign Het
Larp4b T A 13: 9,158,124 V378E probably damaging Het
Lbx1 A T 19: 45,233,775 S270T possibly damaging Het
Mcph1 T C 8: 18,671,127 L657P probably damaging Het
Ndst2 G T 14: 20,729,414 P253T probably benign Het
Nek4 G A 14: 30,977,584 probably null Het
Nsd1 T A 13: 55,276,515 probably null Het
Oc90 A G 15: 65,889,401 probably benign Het
Plcl2 T A 17: 50,607,696 S578T probably benign Het
Ranbp3l T A 15: 9,063,087 C325* probably null Het
Rps19bp1 T C 15: 80,260,997 Y140C probably damaging Het
Sec62 T A 3: 30,814,246 I208K probably benign Het
Slc25a48 T A 13: 56,470,353 F268I probably damaging Het
Slc35e3 T C 10: 117,744,902 T166A possibly damaging Het
Tmem253 G A 14: 52,017,157 W23* probably null Het
Tmem97 T C 11: 78,542,760 Y103C probably damaging Het
Traf6 A G 2: 101,696,892 E329G possibly damaging Het
Ttll12 A G 15: 83,578,676 F530L probably damaging Het
Ugt3a2 C T 15: 9,361,668 P177S probably damaging Het
Veph1 T C 3: 66,158,087 T520A probably benign Het
Vmn2r98 T A 17: 19,066,451 Y404N probably damaging Het
Other mutations in Mcm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Mcm6 APN 1 128344383 missense probably damaging 1.00
IGL01420:Mcm6 APN 1 128345875 missense probably damaging 1.00
IGL02256:Mcm6 APN 1 128335728 critical splice donor site probably null
IGL02624:Mcm6 APN 1 128349448 missense possibly damaging 0.91
IGL02732:Mcm6 APN 1 128359490 missense probably benign 0.16
IGL02750:Mcm6 APN 1 128343472 missense probably damaging 1.00
IGL02926:Mcm6 APN 1 128339382 missense probably damaging 1.00
IGL03189:Mcm6 APN 1 128344302 missense probably damaging 1.00
IGL03238:Mcm6 APN 1 128355520 missense probably benign 0.13
IGL03397:Mcm6 APN 1 128344302 missense probably damaging 1.00
R0453:Mcm6 UTSW 1 128333555 missense probably benign 0.00
R0501:Mcm6 UTSW 1 128355636 missense probably benign 0.03
R0885:Mcm6 UTSW 1 128348933 missense probably benign 0.00
R1013:Mcm6 UTSW 1 128349041 missense probably benign
R1319:Mcm6 UTSW 1 128349052 missense probably benign
R1396:Mcm6 UTSW 1 128351476 missense probably damaging 1.00
R1656:Mcm6 UTSW 1 128349418 missense possibly damaging 0.90
R1891:Mcm6 UTSW 1 128335810 missense probably damaging 1.00
R1950:Mcm6 UTSW 1 128345989 missense probably benign 0.35
R3411:Mcm6 UTSW 1 128351585 missense probably benign 0.35
R4564:Mcm6 UTSW 1 128343459 missense probably damaging 1.00
R4626:Mcm6 UTSW 1 128351548 missense probably benign 0.01
R4627:Mcm6 UTSW 1 128351548 missense probably benign 0.01
R4628:Mcm6 UTSW 1 128351548 missense probably benign 0.01
R4916:Mcm6 UTSW 1 128348977 missense probably damaging 1.00
R4965:Mcm6 UTSW 1 128359486 missense probably damaging 1.00
R4967:Mcm6 UTSW 1 128335849 missense probably damaging 1.00
R5016:Mcm6 UTSW 1 128343427 missense probably damaging 1.00
R5204:Mcm6 UTSW 1 128333638 missense probably benign 0.01
R5229:Mcm6 UTSW 1 128333584 missense possibly damaging 0.82
R5607:Mcm6 UTSW 1 128355589 missense probably damaging 1.00
R5811:Mcm6 UTSW 1 128335728 critical splice donor site probably benign
R5816:Mcm6 UTSW 1 128348455 missense probably benign 0.01
R7204:Mcm6 UTSW 1 128338127 missense probably damaging 1.00
R7316:Mcm6 UTSW 1 128359508 missense probably damaging 1.00
Z1088:Mcm6 UTSW 1 128344298 missense probably damaging 1.00
Posted On2014-02-04