Incidental Mutation 'IGL01786:Mcm8'
ID278918
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcm8
Ensembl Gene ENSMUSG00000027353
Gene Nameminichromosome maintenance 8 homologous recombination repair factor
Synonyms5730432L01Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.603) question?
Stock #IGL01786
Quality Score
Status
Chromosome2
Chromosomal Location132816141-132844197 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 132827948 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 314 (D314G)
Ref Sequence ENSEMBL: ENSMUSP00000066842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000066559]
Predicted Effect probably benign
Transcript: ENSMUST00000028831
AA Change: D342G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: D342G

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
low complexity region 48 62 N/A INTRINSIC
Blast:MCM 79 155 2e-28 BLAST
MCM 198 742 2.42e-136 SMART
AAA 439 590 5.99e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066559
AA Change: D314G

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: D314G

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
Blast:MCM 51 127 2e-28 BLAST
MCM 170 714 2.42e-136 SMART
AAA 411 562 5.99e-6 SMART
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 mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male infertility associated with impaired ovarian development and arrested male meiosis, and impaired sensitivity to homologous recombination double-strand break repair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 T A 8: 24,996,839 H20L probably damaging Het
Ano3 T A 2: 110,682,715 Q645L probably damaging Het
Clasp1 T A 1: 118,497,736 L272Q possibly damaging Het
Corin T C 5: 72,339,876 N532S probably damaging Het
Ddx1 A T 12: 13,229,136 D468E probably benign Het
Hk2 A G 6: 82,739,553 S333P probably benign Het
Kctd19 T C 8: 105,390,304 T398A probably benign Het
Klra8 T A 6: 130,119,068 probably null Het
Mga T A 2: 119,902,912 D80E probably damaging Het
Mylk3 T C 8: 85,359,317 Q36R probably benign Het
Myom2 T C 8: 15,106,330 S726P probably damaging Het
Nuf2 T C 1: 169,510,483 S242G possibly damaging Het
Nup210l T A 3: 90,122,776 Y265* probably null Het
Olfr1445 C T 19: 12,884,277 T132I probably damaging Het
Olfr530 T A 7: 140,373,125 M162L probably benign Het
Otud3 T C 4: 138,896,897 D278G probably benign Het
Papolg A G 11: 23,874,488 V298A probably damaging Het
Phc1 T C 6: 122,319,520 D847G possibly damaging Het
Pkd2l1 A G 19: 44,191,442 F110L probably damaging Het
Plxnd1 T A 6: 115,959,935 T1638S probably damaging Het
Polr3a G A 14: 24,484,120 Q106* probably null Het
Rnf32 T C 5: 29,206,814 probably benign Het
Slc30a9 A G 5: 67,346,238 probably benign Het
Slc44a2 A G 9: 21,352,486 Y650C probably damaging Het
Sv2a A T 3: 96,188,209 Y306F probably benign Het
Tmem50a T C 4: 134,898,447 E153G probably damaging Het
Tor1a A G 2: 30,963,703 probably null Het
Tusc5 G A 11: 76,680,466 V103I probably benign Het
Usp20 A G 2: 31,017,163 E594G probably benign Het
Other mutations in Mcm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Mcm8 APN 2 132827537 missense probably benign
IGL00479:Mcm8 APN 2 132817174 missense probably benign
IGL00573:Mcm8 APN 2 132832812 missense possibly damaging 0.94
IGL00847:Mcm8 APN 2 132819674 missense probably benign 0.29
IGL00978:Mcm8 APN 2 132821406 missense probably benign
IGL01390:Mcm8 APN 2 132838078 splice site probably benign
IGL01785:Mcm8 APN 2 132827948 missense probably benign 0.05
IGL02216:Mcm8 APN 2 132839529 missense probably damaging 1.00
IGL03191:Mcm8 APN 2 132821442 missense possibly damaging 0.68
madamina UTSW 2 132832854 missense probably damaging 1.00
PIT4687001:Mcm8 UTSW 2 132817177 missense possibly damaging 0.54
R0329:Mcm8 UTSW 2 132819994 missense possibly damaging 0.64
R0330:Mcm8 UTSW 2 132819994 missense possibly damaging 0.64
R1520:Mcm8 UTSW 2 132839455 missense probably benign 0.39
R1771:Mcm8 UTSW 2 132843556 nonsense probably null
R1967:Mcm8 UTSW 2 132842742 missense probably benign
R2228:Mcm8 UTSW 2 132820121 missense possibly damaging 0.85
R2418:Mcm8 UTSW 2 132824738 missense probably benign
R4728:Mcm8 UTSW 2 132832854 missense probably damaging 1.00
R4827:Mcm8 UTSW 2 132823254 missense probably damaging 0.99
R4847:Mcm8 UTSW 2 132820003 missense probably benign 0.01
R4928:Mcm8 UTSW 2 132839479 missense probably benign 0.00
R4932:Mcm8 UTSW 2 132838709 missense probably benign 0.09
R4962:Mcm8 UTSW 2 132838769 missense probably damaging 1.00
R6044:Mcm8 UTSW 2 132831680 critical splice donor site probably null
R6081:Mcm8 UTSW 2 132828083 missense probably benign 0.00
R6650:Mcm8 UTSW 2 132821407 missense probably benign 0.01
R6685:Mcm8 UTSW 2 132842650 missense probably damaging 1.00
R7006:Mcm8 UTSW 2 132823261 missense probably damaging 1.00
R7176:Mcm8 UTSW 2 132820072 missense probably benign 0.01
R7328:Mcm8 UTSW 2 132832857 missense probably benign 0.28
R7486:Mcm8 UTSW 2 132839520 missense probably damaging 1.00
R7631:Mcm8 UTSW 2 132828043 missense not run
R7664:Mcm8 UTSW 2 132843533 missense probably damaging 0.96
R7820:Mcm8 UTSW 2 132840772 missense possibly damaging 0.68
R8090:Mcm8 UTSW 2 132831649 missense probably benign 0.30
R8228:Mcm8 UTSW 2 132842794 critical splice donor site probably null
Z1176:Mcm8 UTSW 2 132827567 nonsense probably null
Posted On2015-04-16