Incidental Mutation 'R6044:Mcm8'
ID 483699
Institutional Source Beutler Lab
Gene Symbol Mcm8
Ensembl Gene ENSMUSG00000027353
Gene Name minichromosome maintenance 8 homologous recombination repair factor
Synonyms 5730432L01Rik
MMRRC Submission 044212-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.731) question?
Stock # R6044 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 132658061-132686117 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 132673600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000066559]
AlphaFold Q9CWV1
Predicted Effect probably null
Transcript: ENSMUST00000028831
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353

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 null
Transcript: ENSMUST00000066559
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G A 14: 32,382,614 (GRCm39) S1117L possibly damaging Het
Adamts20 A T 15: 94,180,364 (GRCm39) Y1764N probably damaging Het
Adamtsl1 A T 4: 86,130,928 (GRCm39) D223V probably damaging Het
Agbl1 T C 7: 75,967,868 (GRCm39) V31A possibly damaging Het
Alk T C 17: 72,299,095 (GRCm39) H462R probably benign Het
Amt A T 9: 108,174,450 (GRCm39) T72S probably damaging Het
Atp12a T A 14: 56,613,612 (GRCm39) D461E probably damaging Het
Bcan C A 3: 87,902,950 (GRCm39) C276F probably damaging Het
Crispld2 T C 8: 120,737,410 (GRCm39) S54P possibly damaging Het
Cyp11a1 A T 9: 57,933,987 (GRCm39) N478I probably damaging Het
Des A T 1: 75,340,113 (GRCm39) probably null Het
Dnajc6 A T 4: 101,473,774 (GRCm39) I427F probably benign Het
Eml4 T G 17: 83,753,379 (GRCm39) L281R probably damaging Het
Fam186a T C 15: 99,839,878 (GRCm39) Y2122C probably damaging Het
Fndc11 T A 2: 180,863,459 (GRCm39) L88Q probably damaging Het
Foxo1 A G 3: 52,253,258 (GRCm39) M474V probably benign Het
Gap43 A T 16: 42,112,550 (GRCm39) D70E probably benign Het
Gemin4 T C 11: 76,103,760 (GRCm39) M334V probably benign Het
Gm973 T C 1: 59,667,393 (GRCm39) L718P probably benign Het
Gprin3 G T 6: 59,330,657 (GRCm39) T550N possibly damaging Het
Hddc3 T A 7: 79,993,332 (GRCm39) V53E probably benign Het
Itpr2 A T 6: 146,298,449 (GRCm39) D12E probably null Het
Klri2 T A 6: 129,717,247 (GRCm39) E45D probably damaging Het
Lct A G 1: 128,235,717 (GRCm39) V430A possibly damaging Het
Mmp12 A G 9: 7,350,050 (GRCm39) T184A possibly damaging Het
Morc3 T C 16: 93,663,330 (GRCm39) V511A probably benign Het
Mta2 T C 19: 8,925,695 (GRCm39) Y397H probably damaging Het
Naa50 G A 16: 43,979,890 (GRCm39) E93K possibly damaging Het
Or14j2 G A 17: 37,885,426 (GRCm39) T296M probably damaging Het
Or2t26 T C 11: 49,039,522 (GRCm39) V146A probably benign Het
Or4a77 T A 2: 89,487,516 (GRCm39) I90F probably damaging Het
Or4c126 T C 2: 89,823,761 (GRCm39) I8T possibly damaging Het
Or4k40 T C 2: 111,250,423 (GRCm39) N291S probably damaging Het
Padi4 A G 4: 140,475,438 (GRCm39) S576P possibly damaging Het
Poglut2 A T 1: 44,153,611 (GRCm39) L221* probably null Het
Prss47 A T 13: 65,197,120 (GRCm39) Y111* probably null Het
Ptprm A G 17: 67,000,857 (GRCm39) V1100A probably damaging Het
Rab11fip3 G A 17: 26,286,843 (GRCm39) P437S possibly damaging Het
Rsph14 C T 10: 74,867,102 (GRCm39) D15N probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slco1a1 A G 6: 141,885,743 (GRCm39) V94A probably benign Het
Smpdl3a A G 10: 57,687,358 (GRCm39) E362G possibly damaging Het
Sva A T 6: 42,017,034 (GRCm39) Y47F probably benign Het
Tatdn3 A G 1: 190,788,558 (GRCm39) probably null Het
Tlcd4 A T 3: 121,001,018 (GRCm39) I205K probably damaging Het
Tlcd5 A G 9: 43,024,903 (GRCm39) S18P probably benign Het
Tmem131 G A 1: 36,920,422 (GRCm39) Q93* probably null Het
Trpm7 T C 2: 126,656,665 (GRCm39) E1184G probably damaging Het
Ubr1 T C 2: 120,693,202 (GRCm39) I1735V probably benign Het
Usp40 A T 1: 87,917,872 (GRCm39) I325K probably benign Het
Vmn2r27 T G 6: 124,208,731 (GRCm39) I5L probably benign Het
Wee1 C T 7: 109,738,513 (GRCm39) T542I probably benign Het
Wrn G A 8: 33,726,457 (GRCm39) P1129S probably damaging Het
Zfyve16 G A 13: 92,659,174 (GRCm39) Q246* probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGGCATTCCCTTGGAGCATAG -3'
(R):5'- TCCATTCCAGTAACTGCCGAC -3'

Sequencing Primer
(F):5'- CCCTTGGAGCATAGATTTTAAAGC -3'
(R):5'- AGTCCAGTTCCTCATGTTATGGTGAC -3'
Posted On 2017-07-14