Incidental Mutation 'IGL03397:Mcm6'
ID421285
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 #IGL03397
Quality Score
Status
Chromosome1
Chromosomal Location128331590-128359664 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 128344302 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 453 (D453N)
Ref Sequence ENSEMBL: ENSMUSP00000140308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027601] [ENSMUST00000190495]
Predicted Effect probably damaging
Transcript: ENSMUST00000027601
AA Change: D453N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027601
Gene: ENSMUSG00000026355
AA Change: D453N

DomainStartEndE-ValueType
MCM 119 657 1.43e-270 SMART
PDB:2LE8|A 710 821 1e-47 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188755
Predicted Effect probably damaging
Transcript: ENSMUST00000190495
AA Change: D453N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140308
Gene: ENSMUSG00000026355
AA Change: D453N

DomainStartEndE-ValueType
MCM 119 657 1.43e-270 SMART
PDB:2LE8|A 710 783 3e-29 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191454
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
4930435E12Rik G A 16: 38,828,693 P18L probably damaging Het
Abcc2 A T 19: 43,784,304 Y51F probably benign Het
Ankrd42 G A 7: 92,619,554 L194F probably damaging Het
Ccdc81 G T 7: 89,896,828 T56N probably damaging Het
Cdh10 T C 15: 18,964,028 I92T probably damaging Het
Eif2b4 A G 5: 31,187,653 I550T probably damaging Het
Epb41l3 A G 17: 69,248,692 Y304C probably damaging Het
Gm10244 A G 6: 39,420,806 probably benign Het
Gm5416 A T 16: 36,213,614 I55F probably damaging Het
Hist1h2bm T C 13: 21,722,381 I95T possibly damaging Het
Lrrc74a T C 12: 86,758,538 V378A probably benign Het
Mctp2 A G 7: 72,259,277 L96P probably damaging Het
Nlrp5 G A 7: 23,413,334 V139M probably damaging Het
Nrcam T G 12: 44,559,757 S429A probably damaging Het
Olfr235 C A 19: 12,268,502 Q91K probably benign Het
Pdgfrb A T 18: 61,079,681 T886S probably benign Het
Rapgef5 T A 12: 117,748,441 F754L probably damaging Het
Sbf1 T C 15: 89,288,721 K1863R probably damaging Het
Sis T C 3: 72,935,879 T751A probably benign Het
Six3 G T 17: 85,621,646 R136L probably damaging Het
Slc6a12 A G 6: 121,357,045 D280G probably damaging Het
Sox2 A G 3: 34,650,537 D41G probably damaging Het
Stxbp4 A T 11: 90,540,234 L417M probably damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tgm2 T C 2: 158,120,258 Y547C probably damaging Het
Thsd7b A G 1: 129,596,164 R312G probably benign Het
Tmem94 G T 11: 115,787,568 probably benign Het
Usp39 A G 6: 72,336,313 M298T possibly damaging Het
Vmn2r85 C T 10: 130,425,394 C358Y probably damaging Het
Zscan18 A T 7: 12,773,561 S497T 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
IGL01746:Mcm6 APN 1 128353524 nonsense probably null
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
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 On2016-08-02