Incidental Mutation 'R7486:Mcm8'
ID 580140
Institutional Source Beutler Lab
Gene Symbol Mcm8
Ensembl Gene ENSMUSG00000027353
Gene Name minichromosome maintenance 8 homologous recombination repair factor
Synonyms 5730432L01Rik
MMRRC Submission 045560-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.731) question?
Stock # R7486 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 132658061-132686117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132681440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 667 (R667W)
Ref Sequence ENSEMBL: ENSMUSP00000028831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000066559]
AlphaFold Q9CWV1
Predicted Effect probably damaging
Transcript: ENSMUST00000028831
AA Change: R667W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: R667W

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 damaging
Transcript: ENSMUST00000066559
AA Change: R639W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: R639W

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: 99.9%
  • 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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 T C 12: 81,605,657 (GRCm39) I702V probably benign Het
Adgre5 T C 8: 84,450,515 (GRCm39) E815G probably damaging Het
Adgrl2 A G 3: 148,523,330 (GRCm39) V298A Het
Akp3 A G 1: 87,053,201 (GRCm39) D91G probably damaging Het
Ano8 A G 8: 71,937,642 (GRCm39) probably null Het
Blvra T C 2: 126,929,243 (GRCm39) S136P unknown Het
Cacul1 T A 19: 60,568,868 (GRCm39) M97L probably benign Het
Ccdc80 T C 16: 44,946,542 (GRCm39) V827A probably damaging Het
Cep68 T C 11: 20,192,166 (GRCm39) E11G probably benign Het
Cfap221 A T 1: 119,851,322 (GRCm39) V813E possibly damaging Het
Chd6 A G 2: 160,791,923 (GRCm39) V2478A probably damaging Het
Chmp6 T C 11: 119,807,783 (GRCm39) F148S probably benign Het
Clca3a2 T A 3: 144,503,362 (GRCm39) I863F probably damaging Het
Cnnm2 T C 19: 46,750,513 (GRCm39) V101A possibly damaging Het
Cpne8 A T 15: 90,400,109 (GRCm39) probably null Het
Dmbt1 T G 7: 130,668,192 (GRCm39) C483G unknown Het
Dnah7b G A 1: 46,329,894 (GRCm39) G3246D probably damaging Het
Dnajc3 C A 14: 119,209,816 (GRCm39) T297K probably benign Het
Dpm3 A G 3: 89,174,034 (GRCm39) probably null Het
Eef2k A G 7: 120,457,793 (GRCm39) N51D probably benign Het
Erc1 G A 6: 119,571,907 (GRCm39) Q1022* probably null Het
Ercc5 T A 1: 44,187,224 (GRCm39) M1K probably null Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fat4 C A 3: 39,011,576 (GRCm39) Y2225* probably null Het
Frk G A 10: 34,423,292 (GRCm39) W123* probably null Het
Gm11568 T A 11: 99,749,292 (GRCm39) C166S unknown Het
Gpr153 A G 4: 152,366,858 (GRCm39) D337G probably benign Het
Gpt2 T C 8: 86,252,235 (GRCm39) F517L probably damaging Het
Gsg1 C T 6: 135,214,427 (GRCm39) E361K probably benign Het
Hsfy2 G A 1: 56,676,130 (GRCm39) R136* probably null Het
Insm1 G A 2: 146,065,738 (GRCm39) R518H probably damaging Het
Kank1 G A 19: 25,388,193 (GRCm39) C622Y probably damaging Het
Katnb1 T A 8: 95,825,357 (GRCm39) S640R probably damaging Het
Kcnmb4 A G 10: 116,254,180 (GRCm39) V199A probably benign Het
Lamb1 T G 12: 31,337,441 (GRCm39) S391A probably benign Het
Larp7-ps A T 4: 92,079,506 (GRCm39) V105E probably benign Het
Macf1 T G 4: 123,303,374 (GRCm39) D376A probably benign Het
Map7d1 C A 4: 126,128,179 (GRCm39) R614L unknown Het
Med13l C T 5: 118,866,539 (GRCm39) T531I probably benign Het
Mstn G T 1: 53,103,128 (GRCm39) A155S probably damaging Het
Mycbp2 C T 14: 103,434,690 (GRCm39) R2251K probably damaging Het
Myo19 T C 11: 84,796,463 (GRCm39) S692P probably benign Het
Nipbl A T 15: 8,325,120 (GRCm39) N2514K probably benign Het
Nkd2 T A 13: 73,995,561 (GRCm39) probably benign Het
Nox3 T A 17: 3,720,219 (GRCm39) Y322F probably damaging Het
Nt5dc1 A G 10: 34,275,805 (GRCm39) Y135H probably benign Het
Oog3 T A 4: 143,884,742 (GRCm39) H398L probably benign Het
Or10g9 T A 9: 39,912,181 (GRCm39) Y114F probably benign Het
Or12j4 C T 7: 140,045,947 (GRCm39) probably benign Het
Or1e29 T C 11: 73,667,847 (GRCm39) Y102C probably damaging Het
Otogl A G 10: 107,657,849 (GRCm39) L1027P probably damaging Het
Pcdh20 T A 14: 88,706,050 (GRCm39) I417F possibly damaging Het
Pcdha12 T A 18: 37,154,610 (GRCm39) V443E probably damaging Het
Pcdhga2 A G 18: 37,803,461 (GRCm39) D435G probably benign Het
Pcnt G T 10: 76,254,270 (GRCm39) T853K probably benign Het
Pcnt T C 10: 76,254,271 (GRCm39) T853A probably benign Het
Pgghg T A 7: 140,522,393 (GRCm39) S57R probably benign Het
Ppm1m T C 9: 106,073,810 (GRCm39) D301G probably damaging Het
Ppp6r1 A G 7: 4,642,899 (GRCm39) V519A probably benign Het
Prss41 ACAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCA 17: 24,063,072 (GRCm39) probably benign Het
Rasa3 C T 8: 13,640,201 (GRCm39) probably null Het
Robo4 T C 9: 37,316,870 (GRCm39) V395A probably damaging Het
Scrib A G 15: 75,929,499 (GRCm39) S1123P probably damaging Het
Setd1b A G 5: 123,301,655 (GRCm39) K45E probably benign Het
Slc14a1 T C 18: 78,154,739 (GRCm39) S216G probably benign Het
Slc25a45 A G 19: 5,934,997 (GRCm39) Y282C probably damaging Het
Slc6a5 T C 7: 49,567,078 (GRCm39) S255P possibly damaging Het
Smc2 A T 4: 52,462,861 (GRCm39) Q617L possibly damaging Het
Spo11 G A 2: 172,825,870 (GRCm39) D103N probably benign Het
Tcf20 A T 15: 82,737,935 (GRCm39) M1172K possibly damaging Het
Tesc T A 5: 118,184,382 (GRCm39) S21T probably benign Het
Tie1 C A 4: 118,337,101 (GRCm39) probably null Het
Trim24 T G 6: 37,934,774 (GRCm39) probably null Het
Trpm7 A G 2: 126,673,115 (GRCm39) probably null Het
Unc13d T C 11: 115,965,259 (GRCm39) D193G possibly damaging Het
Upk3a A T 15: 84,902,225 (GRCm39) probably null Het
Vmn2r25 T C 6: 123,800,101 (GRCm39) N747S probably damaging Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,270,418 (GRCm39) probably benign Het
Zbtb2 G A 10: 4,319,025 (GRCm39) Q334* probably null Het
Zfp653 T C 9: 21,967,824 (GRCm39) N494D probably damaging Het
Zfp865 A G 7: 5,034,259 (GRCm39) D748G possibly damaging Het
Zzef1 T C 11: 72,755,612 (GRCm39) S1014P 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
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
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'- AGCTAACTAAGGTGACTGGAAC -3'
(R):5'- AGCTATAGGTTTGTGTCCTCAGTC -3'

Sequencing Primer
(F):5'- TGGAACGGTAGCCACACTG -3'
(R):5'- CTCTAGCCACAAAAGTCCTGAGTG -3'
Posted On 2019-10-07