Incidental Mutation 'R7820:Mcm8'
ID 601799
Institutional Source Beutler Lab
Gene Symbol Mcm8
Ensembl Gene ENSMUSG00000027353
Gene Name minichromosome maintenance 8 homologous recombination repair factor
Synonyms 5730432L01Rik
MMRRC Submission 045874-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.731) question?
Stock # R7820 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 132658061-132686117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132682692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 724 (E724G)
Ref Sequence ENSEMBL: ENSMUSP00000028831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000066559]
AlphaFold Q9CWV1
Predicted Effect possibly damaging
Transcript: ENSMUST00000028831
AA Change: E724G

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: E724G

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: ENSMUST00000066559
AA Change: E696G

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: E696G

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 96% (49/51)
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
4933405O20Rik T A 7: 50,249,371 (GRCm39) I135N probably benign Het
Abca14 A T 7: 119,811,944 (GRCm39) N175I probably benign Het
Adam12 A G 7: 133,599,917 (GRCm39) V99A probably benign Het
Ankfn1 G T 11: 89,311,956 (GRCm39) P730T probably damaging Het
Arhgap21 A G 2: 20,867,983 (GRCm39) S847P probably damaging Het
Cacna1i C T 15: 80,256,573 (GRCm39) A989V probably benign Het
Cacnb2 T A 2: 14,965,477 (GRCm39) N152K probably damaging Het
Cemip2 C T 19: 21,784,825 (GRCm39) A436V probably damaging Het
Chd3 A T 11: 69,244,064 (GRCm39) Y1334N probably damaging Het
Cimap1a A C 7: 140,429,176 (GRCm39) T128P probably benign Het
Clca4a A T 3: 144,666,432 (GRCm39) D473E probably damaging Het
Crhr2 A C 6: 55,079,764 (GRCm39) I191S probably damaging Het
Eef1akmt3 T C 10: 126,869,063 (GRCm39) Q137R possibly damaging Het
Eml1 T C 12: 108,481,433 (GRCm39) I432T possibly damaging Het
Fcgbp A G 7: 27,819,784 (GRCm39) T2504A probably benign Het
Hmgxb4 G T 8: 75,727,574 (GRCm39) E186* probably null Het
Ighv16-1 T C 12: 114,032,589 (GRCm39) N71S probably benign Het
Kif2b A G 11: 91,468,100 (GRCm39) V61A probably benign Het
Map1b C T 13: 99,567,685 (GRCm39) G1679R unknown Het
Mast4 G A 13: 102,890,596 (GRCm39) S1086L probably damaging Het
Mfap5 C A 6: 122,497,880 (GRCm39) D51E probably damaging Het
Mon1a T C 9: 107,778,511 (GRCm39) L245P probably damaging Het
Mtx1 G T 3: 89,121,315 (GRCm39) H106Q probably benign Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Ngp A G 9: 110,249,932 (GRCm39) T77A probably benign Het
Oca2 A T 7: 55,981,713 (GRCm39) I612F probably damaging Het
Or11a4 A T 17: 37,536,786 (GRCm39) M257L probably benign Het
Or4c119 T A 2: 88,986,592 (GRCm39) D309V probably benign Het
Or8b3 A T 9: 38,314,862 (GRCm39) I228F probably damaging Het
Otop3 T A 11: 115,230,414 (GRCm39) V97D probably damaging Het
Ovgp1 A G 3: 105,893,837 (GRCm39) probably benign Het
Pdc T C 1: 150,209,021 (GRCm39) I168T probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Plekha7 A T 7: 115,836,715 (GRCm39) F18I probably benign Het
Plppr4 A G 3: 117,115,598 (GRCm39) I753T possibly damaging Het
Pms2 T G 5: 143,851,451 (GRCm39) S123A possibly damaging Het
Pou4f2 T A 8: 79,163,131 (GRCm39) probably benign Het
Ptch1 A T 13: 63,670,875 (GRCm39) L885Q probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rgs11 T A 17: 26,424,169 (GRCm39) probably null Het
Samd3 T A 10: 26,109,416 (GRCm39) probably null Het
Slit3 A G 11: 35,591,235 (GRCm39) D1349G probably benign Het
Sorbs2 A T 8: 46,249,593 (GRCm39) Q868L probably null Het
Speer4f1 T A 5: 17,684,528 (GRCm39) S185R probably damaging Het
Spin2f A G X: 30,905,635 (GRCm39) K28R probably benign Het
Tas2r125 T G 6: 132,886,841 (GRCm39) I76M probably benign Het
Tex15 A T 8: 34,065,090 (GRCm39) I1507F probably damaging Het
Vmn1r215 A T 13: 23,260,715 (GRCm39) I252F probably damaging Het
Vmn1r71 A G 7: 10,482,652 (GRCm39) F12S possibly damaging Het
Zfp128 A G 7: 12,624,949 (GRCm39) Y439C probably benign Het
Zfp764l1 A T 7: 126,990,608 (GRCm39) W460R 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
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
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'- TCTCCTGAAATGAGCACTCAG -3'
(R):5'- TCTGCCATACTTCCCCAAAG -3'

Sequencing Primer
(F):5'- GTAGGTAAAAGTACATTCTGGCTG -3'
(R):5'- TGTCGGCCAGGACTGACATC -3'
Posted On 2019-12-03