Incidental Mutation 'IGL00470:Mcm8'
ID 7018
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 # IGL00470
Quality Score
Status
Chromosome 2
Chromosomal Location 132658061-132686117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 132669457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 281 (V281I)
Ref Sequence ENSEMBL: ENSMUSP00000066842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000066559]
AlphaFold Q9CWV1
Predicted Effect probably benign
Transcript: ENSMUST00000028831
AA Change: V309I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: V309I

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: V281I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: V281I

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732463B04Rik G T 12: 84,090,578 (GRCm39) probably benign Het
Abcd1 T C X: 72,761,154 (GRCm39) L173P probably damaging Het
Adam18 T A 8: 25,118,149 (GRCm39) D41V probably damaging Het
Armh4 A T 14: 50,010,460 (GRCm39) S416T probably damaging Het
Aspa T G 11: 73,204,447 (GRCm39) probably benign Het
Cacna2d1 T A 5: 16,451,654 (GRCm39) probably benign Het
Cracd G A 5: 77,013,903 (GRCm39) probably benign Het
Cubn T A 2: 13,283,229 (GRCm39) I3570L probably benign Het
Cyp2j13 G A 4: 95,950,275 (GRCm39) P242L probably damaging Het
Cysrt1 T C 2: 25,129,513 (GRCm39) probably benign Het
Dchs1 A T 7: 105,407,414 (GRCm39) L2100H probably damaging Het
Ddb1 G A 19: 10,589,028 (GRCm39) A229T possibly damaging Het
Dst A T 1: 34,228,043 (GRCm39) I1554F probably damaging Het
Dvl3 C T 16: 20,349,689 (GRCm39) P554L probably damaging Het
Fcgbp C A 7: 27,774,511 (GRCm39) C28* probably null Het
Gm773 T C X: 55,247,373 (GRCm39) D53G probably benign Het
Hhat A G 1: 192,399,325 (GRCm39) Y272H probably damaging Het
Inpp5k T C 11: 75,536,351 (GRCm39) S310P probably benign Het
Kat2a G A 11: 100,596,210 (GRCm39) R782W probably damaging Het
Kcnh5 T C 12: 74,944,570 (GRCm39) D893G probably benign Het
Lama2 T C 10: 27,119,738 (GRCm39) T709A probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Nup133 T G 8: 124,665,822 (GRCm39) D201A probably damaging Het
Oxct2a A G 4: 123,217,183 (GRCm39) L66P possibly damaging Het
Pcbp2 C T 15: 102,399,148 (GRCm39) A224V probably damaging Het
Phf8-ps T A 17: 33,284,837 (GRCm39) H655L probably benign Het
Pla2g4e G A 2: 120,015,719 (GRCm39) S275F probably benign Het
Pxk T C 14: 8,130,754 (GRCm38) F118L probably damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Sphkap A G 1: 83,255,631 (GRCm39) M706T possibly damaging Het
Tars3 T C 7: 65,338,656 (GRCm39) M689T probably benign Het
Trrap T C 5: 144,754,848 (GRCm39) V2008A probably damaging Het
Txndc2 A T 17: 65,945,569 (GRCm39) S203T probably benign Het
Txnrd1 T G 10: 82,711,496 (GRCm39) D42E probably damaging Het
Zswim8 G A 14: 20,773,249 (GRCm39) D1746N probably damaging Het
Other mutations in Mcm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL01390:Mcm8 APN 2 132,679,998 (GRCm39) splice site 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 2012-04-20