Incidental Mutation 'IGL00479:Mcm8'
ID 13606
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 # IGL00479
Quality Score
Status
Chromosome 2
Chromosomal Location 132658061-132686117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132659094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 26 (N26S)
Ref Sequence ENSEMBL: ENSMUSP00000066842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000039554] [ENSMUST00000066559]
AlphaFold Q9CWV1
Predicted Effect probably benign
Transcript: ENSMUST00000028831
AA Change: N26S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: N26S

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: ENSMUST00000039554
SMART Domains Protein: ENSMUSP00000044687
Gene: ENSMUSG00000037376

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Gcd10p 20 302 7.2e-74 PFAM
coiled coil region 345 364 N/A INTRINSIC
low complexity region 444 456 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066559
AA Change: N26S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: N26S

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: ENSMUST00000127855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147336
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A C 4: 156,255,029 (GRCm39) probably benign Het
Antkmt A G 17: 26,010,418 (GRCm39) Y104H probably damaging Het
Arid4a A G 12: 71,119,367 (GRCm39) K651E probably damaging Het
Atpaf2 A T 11: 60,300,410 (GRCm39) probably null Het
Cd177 G T 7: 24,457,440 (GRCm39) S200R probably benign Het
Cd209g A T 8: 4,185,622 (GRCm39) T19S probably benign Het
Cxcr4 A G 1: 128,516,792 (GRCm39) W290R probably damaging Het
D930020B18Rik T C 10: 121,521,489 (GRCm39) L491P probably damaging Het
Dnah7a T C 1: 53,458,843 (GRCm39) D3765G probably damaging Het
Dpy19l4 T G 4: 11,290,411 (GRCm39) M327L probably benign Het
Eya3 G A 4: 132,431,709 (GRCm39) G314D probably damaging Het
Fmo1 G A 1: 162,657,632 (GRCm39) T503I probably benign Het
Galnt3 A G 2: 65,925,628 (GRCm39) S370P probably damaging Het
Gm5431 A T 11: 48,786,241 (GRCm39) S45T probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Gpat2 A G 2: 127,276,381 (GRCm39) E637G probably damaging Het
Gpr84 T C 15: 103,217,834 (GRCm39) Y81C probably damaging Het
Hnmt A T 2: 23,893,896 (GRCm39) Y199* probably null Het
Homer1 G T 13: 93,483,156 (GRCm39) R81L probably damaging Het
Hspa4 A T 11: 53,171,544 (GRCm39) probably null Het
Marchf6 A G 15: 31,475,909 (GRCm39) I649T probably benign Het
Mgat5 T C 1: 127,315,204 (GRCm39) L310P probably damaging Het
Pah T C 10: 87,414,755 (GRCm39) L369P probably benign Het
Parp4 A C 14: 56,853,917 (GRCm39) K844N possibly damaging Het
Tlr5 A G 1: 182,801,394 (GRCm39) T233A probably benign Het
Tsnaxip1 A G 8: 106,568,055 (GRCm39) T274A probably benign Het
Wdr48 A G 9: 119,734,456 (GRCm39) Y125C probably damaging Het
Other mutations in Mcm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Mcm8 APN 2 132,669,457 (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 2012-12-06