Incidental Mutation 'IGL01390:Mcm8'
ID 79189
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcm8
Ensembl Gene ENSMUSG00000027353
Gene Name minichromosome maintenance 8 homologous recombination repair factor
Synonyms 5730432L01Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.731) question?
Stock # IGL01390
Quality Score
Status
Chromosome 2
Chromosomal Location 132658061-132686117 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 132679998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000066559]
AlphaFold Q9CWV1
Predicted Effect probably benign
Transcript: ENSMUST00000028831
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353

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
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353

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
Atp6v0a1 A G 11: 100,934,628 (GRCm39) K565R probably benign Het
Cacna2d3 T C 14: 28,665,548 (GRCm39) T158A possibly damaging Het
Dnah5 A G 15: 28,411,686 (GRCm39) D3685G probably benign Het
Dock1 T C 7: 134,346,776 (GRCm39) I236T possibly damaging Het
Dock6 A G 9: 21,714,341 (GRCm39) V1803A probably damaging Het
Epb41 T C 4: 131,731,048 (GRCm39) I178V probably benign Het
Gm10110 C A 14: 90,135,677 (GRCm39) noncoding transcript Het
H2ac6 T C 13: 23,867,499 (GRCm39) probably benign Het
Hoxb7 A C 11: 96,177,837 (GRCm39) N95T probably benign Het
Ikzf2 C A 1: 69,609,801 (GRCm39) C116F probably damaging Het
Ints8 A T 4: 11,218,679 (GRCm39) probably benign Het
Itprid1 C T 6: 55,874,983 (GRCm39) P311L probably benign Het
Man2a1 T C 17: 65,017,700 (GRCm39) Y649H probably benign Het
Msi1 T A 5: 115,576,780 (GRCm39) D137E possibly damaging Het
Or8u10 T C 2: 85,915,984 (GRCm39) I46V probably benign Het
Pde6c A G 19: 38,150,376 (GRCm39) Y507C probably benign Het
Prl7d1 A G 13: 27,894,149 (GRCm39) V140A possibly damaging Het
Rb1 T A 14: 73,532,439 (GRCm39) I132F probably benign Het
Rgl1 A G 1: 152,447,339 (GRCm39) probably benign Het
Rpl18a G T 8: 71,348,154 (GRCm39) probably benign Het
Sf3b1 T C 1: 55,026,588 (GRCm39) I1274V probably benign Het
Slc9a3 A C 13: 74,298,880 (GRCm39) I100L probably benign Het
Sorcs3 T A 19: 48,778,570 (GRCm39) Y996N probably damaging Het
Sra1 A G 18: 36,803,134 (GRCm39) L37P probably damaging Het
Stim1 A G 7: 102,076,369 (GRCm39) Q440R possibly damaging Het
Tacc3 C T 5: 33,825,405 (GRCm39) probably benign Het
Tas2r104 T A 6: 131,662,448 (GRCm39) Y87F probably benign Het
Tbl2 T C 5: 135,185,217 (GRCm39) probably benign Het
Vsig10l C T 7: 43,115,889 (GRCm39) S410F probably damaging Het
Other mutations in Mcm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Mcm8 APN 2 132,669,457 (GRCm39) missense probably benign
IGL00479:Mcm8 APN 2 132,659,094 (GRCm39) missense probably benign
IGL00573:Mcm8 APN 2 132,674,732 (GRCm39) missense possibly damaging 0.94
IGL00847:Mcm8 APN 2 132,661,594 (GRCm39) missense probably benign 0.29
IGL00978:Mcm8 APN 2 132,663,326 (GRCm39) missense probably benign
IGL01785:Mcm8 APN 2 132,669,868 (GRCm39) missense probably benign 0.05
IGL01786:Mcm8 APN 2 132,669,868 (GRCm39) missense probably benign 0.05
IGL02216:Mcm8 APN 2 132,681,449 (GRCm39) missense probably damaging 1.00
IGL03191:Mcm8 APN 2 132,663,362 (GRCm39) missense possibly damaging 0.68
madamina UTSW 2 132,674,774 (GRCm39) missense probably damaging 1.00
PIT4687001:Mcm8 UTSW 2 132,659,097 (GRCm39) missense possibly damaging 0.54
R0329:Mcm8 UTSW 2 132,661,914 (GRCm39) missense possibly damaging 0.64
R0330:Mcm8 UTSW 2 132,661,914 (GRCm39) missense possibly damaging 0.64
R1520:Mcm8 UTSW 2 132,681,375 (GRCm39) missense probably benign 0.39
R1771:Mcm8 UTSW 2 132,685,476 (GRCm39) nonsense probably null
R1967:Mcm8 UTSW 2 132,684,662 (GRCm39) missense probably benign
R2228:Mcm8 UTSW 2 132,662,041 (GRCm39) missense possibly damaging 0.85
R2418:Mcm8 UTSW 2 132,666,658 (GRCm39) missense probably benign
R4728:Mcm8 UTSW 2 132,674,774 (GRCm39) missense probably damaging 1.00
R4827:Mcm8 UTSW 2 132,665,174 (GRCm39) missense probably damaging 0.99
R4847:Mcm8 UTSW 2 132,661,923 (GRCm39) missense probably benign 0.01
R4928:Mcm8 UTSW 2 132,681,399 (GRCm39) missense probably benign 0.00
R4932:Mcm8 UTSW 2 132,680,629 (GRCm39) missense probably benign 0.09
R4962:Mcm8 UTSW 2 132,680,689 (GRCm39) missense probably damaging 1.00
R6044:Mcm8 UTSW 2 132,673,600 (GRCm39) critical splice donor site probably null
R6081:Mcm8 UTSW 2 132,670,003 (GRCm39) missense probably benign 0.00
R6650:Mcm8 UTSW 2 132,663,327 (GRCm39) missense probably benign 0.01
R6685:Mcm8 UTSW 2 132,684,570 (GRCm39) missense probably damaging 1.00
R7006:Mcm8 UTSW 2 132,665,181 (GRCm39) missense probably damaging 1.00
R7176:Mcm8 UTSW 2 132,661,992 (GRCm39) missense probably benign 0.01
R7328:Mcm8 UTSW 2 132,674,777 (GRCm39) missense probably benign 0.28
R7486:Mcm8 UTSW 2 132,681,440 (GRCm39) missense probably damaging 1.00
R7631:Mcm8 UTSW 2 132,669,963 (GRCm39) missense not run
R7664:Mcm8 UTSW 2 132,685,453 (GRCm39) missense probably damaging 0.96
R7820:Mcm8 UTSW 2 132,682,692 (GRCm39) missense possibly damaging 0.68
R8090:Mcm8 UTSW 2 132,673,569 (GRCm39) missense probably benign 0.30
R8228:Mcm8 UTSW 2 132,684,714 (GRCm39) critical splice donor site probably null
R8738:Mcm8 UTSW 2 132,665,141 (GRCm39) missense probably benign
Z1176:Mcm8 UTSW 2 132,669,487 (GRCm39) nonsense probably null
Posted On 2013-11-05