Incidental Mutation 'IGL03238:Mcm6'
ID414163
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 #IGL03238
Quality Score
Status
Chromosome1
Chromosomal Location128331590-128359664 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 128355520 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 83 (F83I)
Ref Sequence ENSEMBL: ENSMUSP00000140308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027601] [ENSMUST00000190495]
Predicted Effect probably benign
Transcript: ENSMUST00000027601
AA Change: F83I

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027601
Gene: ENSMUSG00000026355
AA Change: F83I

DomainStartEndE-ValueType
MCM 119 657 1.43e-270 SMART
PDB:2LE8|A 710 821 1e-47 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000190495
AA Change: F83I

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140308
Gene: ENSMUSG00000026355
AA Change: F83I

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 60,024,918 T285P probably benign Het
Abcf1 T C 17: 35,963,323 K186E probably damaging Het
Adam3 T C 8: 24,687,965 probably null Het
Art1 T C 7: 102,110,749 V85A possibly damaging Het
Ccdc110 A G 8: 45,941,822 H250R probably benign Het
Cyp3a13 T A 5: 137,898,889 I388F probably damaging Het
Dnah11 C T 12: 118,109,898 V1425M probably damaging Het
Donson G A 16: 91,681,246 Q22* probably null Het
Eif2b2 A G 12: 85,223,399 T238A probably benign Het
Emc2 T A 15: 43,507,853 probably null Het
Fkbp4 A T 6: 128,434,757 V123E probably damaging Het
Frem2 A T 3: 53,656,261 M275K possibly damaging Het
Gcat T A 15: 79,036,010 probably benign Het
Gemin2 G A 12: 59,016,962 probably benign Het
Ilf3 T A 9: 21,392,350 V169E probably damaging Het
Klra17 T C 6: 129,868,810 H147R probably benign Het
Lama5 A G 2: 180,188,574 I1880T probably benign Het
Lzts1 T C 8: 69,138,794 D234G probably damaging Het
Map3k4 G A 17: 12,271,158 P462L probably benign Het
March6 C A 15: 31,461,941 probably benign Het
Mtpn A G 6: 35,522,773 L32P probably damaging Het
Mybpc3 A T 2: 91,131,659 I841F probably damaging Het
Ndst2 G T 14: 20,728,504 H399N probably damaging Het
Npat G T 9: 53,570,426 V1145F probably damaging Het
Olfr65 G A 7: 103,906,510 A21T probably benign Het
P2ry1 T A 3: 61,004,495 S352T probably damaging Het
Plaa T C 4: 94,583,896 T326A probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Prpmp5 T A 6: 132,312,345 Q172L unknown Het
Setd1a C T 7: 127,785,546 T523I possibly damaging Het
Sgcz C T 8: 37,563,140 probably null Het
Slc12a2 T C 18: 57,914,234 Y740H possibly damaging Het
Stab2 A G 10: 86,855,121 C745R probably damaging Het
Tmem101 A T 11: 102,155,785 L86Q probably damaging Het
Tmtc3 A C 10: 100,477,840 F57V probably damaging Het
Vps50 A G 6: 3,594,771 K778R possibly damaging Het
Washc5 G A 15: 59,346,842 T692M probably damaging Het
Zc3hav1 A T 6: 38,332,750 V379D probably damaging Het
Zfp142 G T 1: 74,576,278 R459S probably benign Het
Zfp512b A G 2: 181,589,760 V199A 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
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 On2016-08-02