Incidental Mutation 'IGL03191:Mcm8'
ID 412649
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 # IGL03191
Quality Score
Status
Chromosome 2
Chromosomal Location 132658061-132686117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132663362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 160 (Y160C)
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: Y188C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: Y188C

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 possibly damaging
Transcript: ENSMUST00000066559
AA Change: Y160C

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: Y160C

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A G 1: 58,398,228 (GRCm39) D1323G probably null Het
Asxl2 A G 12: 3,550,094 (GRCm39) D612G probably damaging Het
Cacna1c A T 6: 118,718,864 (GRCm39) F395L probably damaging Het
Cct8 A G 16: 87,283,198 (GRCm39) S380P probably damaging Het
Cltb T C 13: 54,746,883 (GRCm39) E31G probably damaging Het
Cobl T C 11: 12,203,364 (GRCm39) M1031V probably benign Het
Colgalt1 C A 8: 72,075,731 (GRCm39) probably null Het
Dcstamp A G 15: 39,617,620 (GRCm39) I10V probably benign Het
Diaph3 T C 14: 87,310,738 (GRCm39) I138V possibly damaging Het
Dnah8 T C 17: 30,945,804 (GRCm39) V1827A probably damaging Het
Dpf1 T A 7: 29,015,986 (GRCm39) probably benign Het
Dscam A T 16: 96,621,969 (GRCm39) L494Q probably benign Het
Eif2ak4 C T 2: 118,252,693 (GRCm39) H422Y probably damaging Het
Galnt10 T C 11: 57,662,326 (GRCm39) V324A probably damaging Het
Hcfc1 T C X: 72,999,220 (GRCm39) I309V probably benign Het
Il24 T C 1: 130,812,584 (GRCm39) T96A probably benign Het
Itga2 T C 13: 114,973,020 (GRCm39) probably benign Het
Lrrc32 A G 7: 98,147,454 (GRCm39) H78R possibly damaging Het
Lrrk1 T C 7: 65,909,707 (GRCm39) E2001G probably damaging Het
Lztr1 T A 16: 17,336,392 (GRCm39) M199K probably damaging Het
Msh4 G A 3: 153,575,245 (GRCm39) T710M probably damaging Het
Pate8 T C 9: 36,492,698 (GRCm39) D69G probably benign Het
Pilrb1 A T 5: 137,853,227 (GRCm39) L192Q probably damaging Het
Pim1 T A 17: 29,712,693 (GRCm39) probably benign Het
Slc12a1 A T 2: 125,048,009 (GRCm39) Q817L possibly damaging Het
Trip11 T C 12: 101,865,184 (GRCm39) D163G probably damaging Het
Tsc2 A T 17: 24,847,028 (GRCm39) V179E probably damaging Het
Zfp641 C T 15: 98,186,568 (GRCm39) V352M 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
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
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 2016-08-02