Incidental Mutation 'IGL00978:Mcm8'
ID27020
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: 0.657) question?
Stock #IGL00978
Quality Score
Status
Chromosome2
Chromosomal Location132816141-132844197 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 132821406 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 148 (N148S)
Ref Sequence ENSEMBL: ENSMUSP00000066842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000066559]
Predicted Effect probably benign
Transcript: ENSMUST00000028831
AA Change: N176S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: N176S

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: N148S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: N148S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135685
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009L18Rik T C 11: 120,350,947 probably benign Het
Alpk2 A T 18: 65,291,534 probably benign Het
Angptl8 T C 9: 21,837,053 probably benign Het
AU040320 T A 4: 126,828,839 D383E probably benign Het
Cep97 C T 16: 55,924,960 probably benign Het
Clcn4 A T 7: 7,287,673 L649H probably damaging Het
Col5a2 T C 1: 45,376,739 N1416S probably benign Het
Erbb2 C T 11: 98,435,630 P1027S probably damaging Het
Eya1 A G 1: 14,270,701 probably benign Het
Gfm2 T C 13: 97,162,977 I402T probably benign Het
Gmeb2 A T 2: 181,259,043 V187E probably benign Het
Hectd1 T C 12: 51,791,390 H662R possibly damaging Het
Ifne T C 4: 88,880,031 Q50R probably benign Het
Kidins220 A G 12: 25,057,474 D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 D146V probably damaging Het
Krt36 T C 11: 100,102,948 I355V probably damaging Het
Lrrcc1 T A 3: 14,536,128 S73R possibly damaging Het
Ltbp3 A T 19: 5,754,019 H853L probably benign Het
Map3k5 G A 10: 20,141,567 R1369Q probably damaging Het
Mylk3 A T 8: 85,355,526 L211* probably null Het
Nras T C 3: 103,058,916 probably benign Het
Olfr135 A T 17: 38,208,982 I246F probably damaging Het
Olfr670 A T 7: 104,960,716 N5K probably damaging Het
Os9 A T 10: 127,120,509 Y66N probably damaging Het
Pitpnm1 A G 19: 4,101,228 D15G possibly damaging Het
Reg3a A T 6: 78,382,301 R95* probably null Het
Rnf17 C T 14: 56,512,271 P1425S probably damaging Het
Smad2 T C 18: 76,299,775 probably benign Het
Ttll5 C T 12: 85,933,482 Q76* probably null Het
Uri1 A T 7: 37,996,731 probably benign Het
Vmn2r102 G T 17: 19,678,923 probably null Het
Vmn2r70 T G 7: 85,563,799 M467L probably benign Het
Zfp318 T A 17: 46,413,726 D2218E possibly damaging Het
Zfp692 T C 11: 58,314,029 I405T possibly damaging Het
Zfp692 A G 11: 58,309,998 H235R possibly damaging 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
IGL01390:Mcm8 APN 2 132838078 splice site probably benign
IGL01785:Mcm8 APN 2 132827948 missense probably benign 0.05
IGL01786: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
Z1176:Mcm8 UTSW 2 132827567 nonsense probably null
Posted On2013-04-17