Incidental Mutation 'R8228:Mcm8'
ID 637044
Institutional Source Beutler Lab
Gene Symbol Mcm8
Ensembl Gene ENSMUSG00000027353
Gene Name minichromosome maintenance 8 homologous recombination repair factor
Synonyms 5730432L01Rik
MMRRC Submission 067661-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.731) question?
Stock # R8228 (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 132684714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 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 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 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
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: 99.2%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T C 6: 72,324,500 (GRCm39) probably null Het
1700008O03Rik A G 7: 44,009,729 (GRCm39) Y158H probably benign Het
4930438A08Rik T A 11: 58,182,381 (GRCm39) I252N Het
A930011G23Rik G A 5: 99,524,980 (GRCm39) P60S probably damaging Het
Abcf1 A G 17: 36,271,933 (GRCm39) probably null Het
AI987944 T C 7: 41,026,260 (GRCm39) T14A probably damaging Het
Alox12b T C 11: 69,054,755 (GRCm39) Y253H probably damaging Het
Anapc1 T A 2: 128,461,837 (GRCm39) K1756* probably null Het
Arid5b T A 10: 68,114,536 (GRCm39) E2V possibly damaging Het
Atp13a1 G A 8: 70,251,569 (GRCm39) V545M probably damaging Het
Atp2b4 TTCTTC TTCTTCCTCTTC 1: 133,629,459 (GRCm39) probably benign Het
Cert1 A G 13: 96,679,723 (GRCm39) T18A probably benign Het
Cfap119 G A 7: 127,184,179 (GRCm39) T239M probably benign Het
Col1a1 T G 11: 94,836,426 (GRCm39) probably null Het
Csdc2 C T 15: 81,833,411 (GRCm39) T136I possibly damaging Het
Dpp9 A T 17: 56,498,129 (GRCm39) I609N probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gjb6 T C 14: 57,361,926 (GRCm39) R112G probably benign Het
Gm19410 A G 8: 36,252,992 (GRCm39) K646E possibly damaging Het
Grik5 T C 7: 24,709,933 (GRCm39) E934G probably damaging Het
Grik5 A T 7: 24,745,735 (GRCm39) F446Y possibly damaging Het
Iffo2 C G 4: 139,302,483 (GRCm39) N75K probably damaging Het
Kif15 A G 9: 122,821,041 (GRCm39) N649D possibly damaging Het
Lrit2 G A 14: 36,791,148 (GRCm39) A276T probably damaging Het
Mmut A G 17: 41,248,219 (GRCm39) E82G possibly damaging Het
Or4n4 A G 14: 50,518,997 (GRCm39) S238P probably damaging Het
Or5w8 T A 2: 87,688,284 (GRCm39) M255K probably benign Het
Pcdhga8 A G 18: 37,861,236 (GRCm39) Q764R probably benign Het
Pcgf2 T C 11: 97,582,865 (GRCm39) Y138C probably benign Het
Phf20l1 G T 15: 66,511,789 (GRCm39) V922F possibly damaging Het
Pkd1l2 A T 8: 117,792,514 (GRCm39) I426N probably damaging Het
Psmd6 T C 14: 14,116,843 (GRCm38) N160S possibly damaging Het
Robo1 A G 16: 72,809,768 (GRCm39) D1172G probably benign Het
Sdr9c7 T C 10: 127,734,544 (GRCm39) Y11H possibly damaging Het
Sec24c G T 14: 20,739,975 (GRCm39) A635S probably benign Het
Tex2 T C 11: 106,457,997 (GRCm39) I478V probably benign Het
Traip T C 9: 107,838,265 (GRCm39) M166T probably benign Het
Trdn T C 10: 33,033,014 (GRCm39) S80P probably damaging Het
Trim46 G T 3: 89,142,255 (GRCm39) T744N probably benign Het
Tsc1 C A 2: 28,566,141 (GRCm39) A520D probably benign Het
Usp36 T C 11: 118,155,716 (GRCm39) E852G possibly damaging Het
Vmn2r101 C T 17: 19,811,284 (GRCm39) T456I probably benign Het
Zc3h7a A G 16: 10,956,954 (GRCm39) F885S probably damaging Het
Zfp335 G A 2: 164,746,818 (GRCm39) R354W probably damaging Het
Zfp456 C A 13: 67,514,533 (GRCm39) C391F probably 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
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
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'- TCAGATGAATTCGGAAACCTGGAC -3'
(R):5'- ATGCCAAAACCTTTGAGAAGAG -3'

Sequencing Primer
(F):5'- AACCTGGACTTTGAGCGATC -3'
(R):5'- TCTTAGCACTTAGGAGTCAGAGGC -3'
Posted On 2020-07-13