Incidental Mutation 'IGL01785:Mcm8'
ID 278876
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 # IGL01785
Quality Score
Status
Chromosome 2
Chromosomal Location 132658061-132686117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132669868 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CWV1
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,965,058 (GRCm39) Y309* probably null Het
Abhd18 G A 3: 40,860,339 (GRCm39) R42Q probably damaging Het
Ano3 T A 2: 110,513,060 (GRCm39) Q645L probably damaging Het
Clasp1 T A 1: 118,425,466 (GRCm39) L272Q possibly damaging Het
Clec1b A G 6: 129,380,525 (GRCm39) D115G probably damaging Het
Clec2e A T 6: 129,070,364 (GRCm39) probably benign Het
Corin T C 5: 72,497,219 (GRCm39) N532S probably damaging Het
Csn1s2b A G 5: 87,957,772 (GRCm39) K2R possibly damaging Het
Mga T A 2: 119,733,393 (GRCm39) D80E probably damaging Het
Msh4 A G 3: 153,563,144 (GRCm39) L744P probably damaging Het
Myof A T 19: 37,968,871 (GRCm39) L348* probably null Het
Or12j3 T A 7: 139,953,038 (GRCm39) M162L probably benign Het
Or6z1 T C 7: 6,504,899 (GRCm39) I109V probably benign Het
Otud3 T C 4: 138,624,208 (GRCm39) D278G probably benign Het
Pdpr C A 8: 111,856,288 (GRCm39) H670Q probably damaging Het
Phf21b C A 15: 84,692,262 (GRCm39) probably benign Het
Polr3a G A 14: 24,534,188 (GRCm39) Q106* probably null Het
Ptprm G T 17: 66,992,618 (GRCm39) N1366K probably damaging Het
Slc10a5 G A 3: 10,400,259 (GRCm39) P134S probably benign Het
Slc30a9 A G 5: 67,503,581 (GRCm39) probably benign Het
Stat6 T A 10: 127,493,096 (GRCm39) V576D probably damaging Het
Tmem132d T C 5: 128,061,379 (GRCm39) I408V probably benign Het
Tmem50a T C 4: 134,625,758 (GRCm39) E153G probably damaging Het
Tmod4 A G 3: 95,032,929 (GRCm39) T22A probably benign Het
Tmprss7 C T 16: 45,500,997 (GRCm39) G268D probably damaging Het
Tor1a A G 2: 30,853,715 (GRCm39) probably null Het
Trarg1 G A 11: 76,571,292 (GRCm39) V103I probably benign Het
Ttc29 T C 8: 79,008,970 (GRCm39) L280P probably damaging Het
Usp20 A G 2: 30,907,175 (GRCm39) E594G probably benign Het
Vmn1r31 A C 6: 58,449,709 (GRCm39) M3R possibly 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
IGL01390:Mcm8 APN 2 132,679,998 (GRCm39) splice site probably benign
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 2015-04-16