Incidental Mutation 'R7664:Mcm8'
ID 591764
Institutional Source Beutler Lab
Gene Symbol Mcm8
Ensembl Gene ENSMUSG00000027353
Gene Name minichromosome maintenance 8 homologous recombination repair factor
Synonyms 5730432L01Rik
MMRRC Submission 045704-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.731) question?
Stock # R7664 (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 132685453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 823 (K823R)
Ref Sequence ENSEMBL: ENSMUSP00000028831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000028835] [ENSMUST00000066559] [ENSMUST00000110122] [ENSMUST00000124834] [ENSMUST00000124836] [ENSMUST00000154160]
AlphaFold Q9CWV1
Predicted Effect probably damaging
Transcript: ENSMUST00000028831
AA Change: K823R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: K823R

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: ENSMUST00000028835
SMART Domains Protein: ENSMUSP00000028835
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 71 93 N/A INTRINSIC
Pfam:CDP-OH_P_transf 107 288 1.5e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000066559
AA Change: K795R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: K795R

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 probably benign
Transcript: ENSMUST00000110122
SMART Domains Protein: ENSMUSP00000105749
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 71 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124834
SMART Domains Protein: ENSMUSP00000129509
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 71 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124836
SMART Domains Protein: ENSMUSP00000132682
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 1 175 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154160
SMART Domains Protein: ENSMUSP00000129137
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 7 187 1.8e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (83/84)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C T 11: 84,136,175 (GRCm39) T510I probably damaging Het
Akap12 G T 10: 4,303,748 (GRCm39) W291L probably damaging Het
Akip1 A T 7: 109,308,187 (GRCm39) I152F probably benign Het
Alpk2 T A 18: 65,440,073 (GRCm39) Y440F probably benign Het
Aox3 A G 1: 58,158,698 (GRCm39) T90A probably damaging Het
Arhgef18 A T 8: 3,436,390 (GRCm39) E228V probably damaging Het
B4galnt4 A G 7: 140,647,626 (GRCm39) K405E probably damaging Het
BC034090 T C 1: 155,117,377 (GRCm39) E247G probably damaging Het
Camkk2 A T 5: 122,894,645 (GRCm39) F216I unknown Het
Carm1 A C 9: 21,498,286 (GRCm39) K430T probably benign Het
Ccdc13 A G 9: 121,643,279 (GRCm39) V374A probably benign Het
Cdh26 T A 2: 178,111,835 (GRCm39) M465K probably benign Het
Ceacam10 A T 7: 24,477,757 (GRCm39) M91L probably benign Het
Chrnb1 T C 11: 69,677,850 (GRCm39) T301A possibly damaging Het
Clec4a3 A G 6: 122,943,381 (GRCm39) D101G probably benign Het
Cmss1 G A 16: 57,138,310 (GRCm39) P59S probably benign Het
Crhr1 T A 11: 104,059,968 (GRCm39) F138L probably benign Het
Cxcl5 A T 5: 90,907,890 (GRCm39) I107F probably damaging Het
Cxcr1 A G 1: 74,231,834 (GRCm39) S63P probably damaging Het
Cxcr5 A G 9: 44,424,607 (GRCm39) L350P probably benign Het
D5Ertd579e A T 5: 36,771,961 (GRCm39) H811Q probably benign Het
Ddx46 T G 13: 55,806,864 (GRCm39) I499S probably damaging Het
Ddx51 T G 5: 110,804,785 (GRCm39) probably null Het
Dnaja1 C T 4: 40,724,090 (GRCm39) P84S probably benign Het
Dnajc27 A G 12: 4,153,132 (GRCm39) K203E possibly damaging Het
Fam107b T A 2: 3,571,747 (GRCm39) C24S probably damaging Het
Fancg T C 4: 43,010,066 (GRCm39) K11R probably benign Het
Fnip1 T C 11: 54,356,951 (GRCm39) L44P probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Heca A T 10: 17,778,118 (GRCm39) L493Q probably damaging Het
Hrh2 C T 13: 54,368,875 (GRCm39) P284S probably damaging Het
Ifnar1 C G 16: 91,292,082 (GRCm39) A141G probably damaging Het
Igkv6-32 T A 6: 70,051,282 (GRCm39) T25S probably damaging Het
Inppl1 T C 7: 101,479,304 (GRCm39) H525R probably damaging Het
Itga2b A G 11: 102,351,666 (GRCm39) L553P probably damaging Het
Itgbl1 A G 14: 124,083,962 (GRCm39) Y280C probably damaging Het
Kap T C 6: 133,828,920 (GRCm39) I54V probably benign Het
Kcnh4 G T 11: 100,641,148 (GRCm39) L434M probably damaging Het
Klhl14 T C 18: 21,687,706 (GRCm39) D572G probably damaging Het
Klhl41 T A 2: 69,501,061 (GRCm39) L174Q probably damaging Het
Lrp2 T G 2: 69,337,076 (GRCm39) H1232P probably damaging Het
Lyar A G 5: 38,388,161 (GRCm39) E229G probably benign Het
Mark4 A T 7: 19,177,151 (GRCm39) L226Q probably damaging Het
Mfsd6 A T 1: 52,748,212 (GRCm39) S218T probably benign Het
Mlip A T 9: 77,045,828 (GRCm39) I884N possibly damaging Het
Mmrn1 A G 6: 60,953,689 (GRCm39) T657A probably benign Het
Morc2b A G 17: 33,355,376 (GRCm39) Y799H probably benign Het
Muc16 A T 9: 18,519,018 (GRCm39) I6304N probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Naaladl2 T C 3: 24,112,303 (GRCm39) Y593C probably damaging Het
Ncor1 T C 11: 62,289,154 (GRCm39) E341G probably damaging Het
Nrg1 G T 8: 32,499,169 (GRCm39) probably null Het
Nudt3 A G 17: 27,842,149 (GRCm39) L4P probably benign Het
Odf2l T A 3: 144,854,345 (GRCm39) H493Q probably benign Het
Ost4 A C 5: 31,065,007 (GRCm39) probably null Het
Patj A T 4: 98,385,187 (GRCm39) Q840L possibly damaging Het
Pcdh20 T A 14: 88,706,803 (GRCm39) T166S probably benign Het
Pcdhb4 T A 18: 37,442,293 (GRCm39) D534E probably damaging Het
Pik3ap1 T C 19: 41,310,069 (GRCm39) D417G possibly damaging Het
Ppwd1 A T 13: 104,356,798 (GRCm39) V239E probably damaging Het
Prdm9 T A 17: 15,775,833 (GRCm39) Y206F probably damaging Het
Ranbp6 A G 19: 29,789,476 (GRCm39) V292A possibly damaging Het
Rgs21 T A 1: 144,416,987 (GRCm39) M22L probably benign Het
Rnf17 A T 14: 56,676,335 (GRCm39) I399F probably damaging Het
Rph3a T A 5: 121,099,339 (GRCm39) Q184L probably benign Het
Scrn3 T C 2: 73,149,714 (GRCm39) Y137H possibly damaging Het
Sec14l4 C A 11: 3,994,178 (GRCm39) Y342* probably null Het
Serpinb11 G A 1: 107,307,718 (GRCm39) G383D probably damaging Het
Sf3b1 A G 1: 55,026,626 (GRCm39) V1261A probably damaging Het
Sh3tc2 C T 18: 62,148,042 (GRCm39) Q1251* probably null Het
Skor1 A T 9: 63,049,045 (GRCm39) D845E probably benign Het
Slc39a7 A G 17: 34,248,551 (GRCm39) L364P probably damaging Het
Snrpn T C 7: 59,637,239 (GRCm39) I26V probably benign Het
Snx5 A T 2: 144,099,924 (GRCm39) probably null Het
Spag9 T C 11: 93,992,986 (GRCm39) probably null Het
Srrm2 T C 17: 24,039,955 (GRCm39) S2200P probably damaging Het
Stx11 T C 10: 12,817,070 (GRCm39) E218G probably damaging Het
Tmem151b T C 17: 45,856,861 (GRCm39) N193S probably damaging Het
Tmem87b A T 2: 128,690,974 (GRCm39) D525V possibly damaging Het
Ubtfl1 A T 9: 18,320,782 (GRCm39) R103S possibly damaging Het
Vmn1r196 T A 13: 22,477,932 (GRCm39) D190E probably damaging Het
Vmn2r67 T A 7: 84,805,019 (GRCm39) D31V probably benign Het
Zbtb22 T A 17: 34,137,553 (GRCm39) M566K probably benign Het
Zfp568 A T 7: 29,721,715 (GRCm39) H220L probably benign Het
Zfp974 A T 7: 27,610,137 (GRCm39) S529R 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
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'- GTGGAGTACTATATGAAGCATAGACTG -3'
(R):5'- TGCCTGCTAGACATCTGATATAC -3'

Sequencing Primer
(F):5'- ATGAAGCATAGACTGTTTTTGTTTG -3'
(R):5'- CCTGCTAGACATCTGATATACAAAAC -3'
Posted On 2019-11-12