Incidental Mutation 'R7328:Mcm8'
ID 569035
Institutional Source Beutler Lab
Gene Symbol Mcm8
Ensembl Gene ENSMUSG00000027353
Gene Name minichromosome maintenance 8 homologous recombination repair factor
Synonyms 5730432L01Rik
MMRRC Submission 045421-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.731) question?
Stock # R7328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 132658061-132686117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132674777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 443 (V443A)
Ref Sequence ENSEMBL: ENSMUSP00000028831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000066559]
AlphaFold Q9CWV1
Predicted Effect probably benign
Transcript: ENSMUST00000028831
AA Change: V443A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: V443A

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: V415A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: V415A

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C G 11: 72,060,606 (GRCm39) probably null Het
Abca13 T A 11: 9,241,545 (GRCm39) V1136E probably benign Het
Arl4c C A 1: 88,629,239 (GRCm39) E50* probably null Het
Atxn7l1 T C 12: 33,198,502 (GRCm39) probably null Het
Ctdsp1 A T 1: 74,433,199 (GRCm39) I115F probably damaging Het
Cyp2j5 A G 4: 96,551,450 (GRCm39) V91A probably damaging Het
Dscam T A 16: 96,446,235 (GRCm39) K1469* probably null Het
Elf2 A G 3: 51,174,198 (GRCm39) C110R probably damaging Het
Ephb1 A G 9: 102,072,438 (GRCm39) Y114H probably damaging Het
Ephb2 C T 4: 136,386,245 (GRCm39) probably null Het
Fbxw20 C A 9: 109,061,383 (GRCm39) C122F probably damaging Het
Flnb T C 14: 7,883,788 (GRCm38) I338T possibly damaging Het
Flnb T A 14: 7,894,660 (GRCm38) Y819* probably null Het
Foxo3 A T 10: 42,073,258 (GRCm39) S420T probably benign Het
Herpud1 T C 8: 95,113,248 (GRCm39) V10A possibly damaging Het
Hmcn1 A T 1: 150,514,617 (GRCm39) V3585E possibly damaging Het
Hsdl1 T C 8: 120,292,830 (GRCm39) T202A probably benign Het
Htr1d G A 4: 136,170,614 (GRCm39) S281N probably benign Het
Igkv14-111 T A 6: 68,233,709 (GRCm39) I70N probably damaging Het
Igkv8-34 A G 6: 70,021,328 (GRCm39) S45P probably damaging Het
Inha T C 1: 75,486,760 (GRCm39) Y352H probably damaging Het
Lats1 A T 10: 7,581,311 (GRCm39) M699L possibly damaging Het
Marchf9 T C 10: 126,894,165 (GRCm39) E146G probably damaging Het
Melk A T 4: 44,332,931 (GRCm39) S296C probably benign Het
Myo18a T C 11: 77,698,737 (GRCm39) S4P Het
Myof T C 19: 37,904,847 (GRCm39) Y1646C probably damaging Het
Noc4l C A 5: 110,796,789 (GRCm39) A498S possibly damaging Het
Nrxn3 T C 12: 88,762,345 (GRCm39) S131P probably benign Het
Or5ae2 T C 7: 84,506,507 (GRCm39) I312T probably benign Het
Or5ak23 A G 2: 85,244,668 (GRCm39) I185T probably benign Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Or8g23 T C 9: 38,971,857 (GRCm39) Y35C probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Phldb2 T A 16: 45,578,572 (GRCm39) probably null Het
Polr2b C T 5: 77,463,846 (GRCm39) P81L probably damaging Het
Rbfa C A 18: 80,236,454 (GRCm39) G215C probably benign Het
Rdh19 T C 10: 127,692,896 (GRCm39) S188P probably damaging Het
Scn9a T C 2: 66,314,931 (GRCm39) M1596V probably benign Het
Sele A T 1: 163,876,844 (GRCm39) Y40F probably benign Het
Setd1b T A 5: 123,290,442 (GRCm39) V803D unknown Het
Siglecf C T 7: 43,001,691 (GRCm39) T167I possibly damaging Het
Slc39a6 T C 18: 24,733,987 (GRCm39) E234G probably benign Het
Slco1a1 T A 6: 141,882,134 (GRCm39) D145V possibly damaging Het
Son G A 16: 91,455,278 (GRCm39) V1342I probably benign Het
Sybu G A 15: 44,651,190 (GRCm39) P38L not run Het
Taf15 C T 11: 83,375,658 (GRCm39) T41M possibly damaging Het
Tm4sf4 A T 3: 57,333,925 (GRCm39) N71Y probably benign Het
Tm7sf2 C T 19: 6,114,156 (GRCm39) V226I possibly damaging Het
Trim66 C A 7: 109,056,958 (GRCm39) Q1066H probably damaging Het
Tyw1 T C 5: 130,291,685 (GRCm39) V51A probably benign Het
Vav3 A T 3: 109,410,744 (GRCm39) I192L probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GCCATACACATGCAGGAGTG -3'
(R):5'- CTAGCTTGAAGTGAAAGTAAGGCC -3'

Sequencing Primer
(F):5'- GCCTTGTGCTGTAGACATCAG -3'
(R):5'- GGCCAGATACACTGTGTATTACTCAC -3'
Posted On 2019-09-13