Incidental Mutation 'R1217:Mcm5'
ID 99747
Institutional Source Beutler Lab
Gene Symbol Mcm5
Ensembl Gene ENSMUSG00000005410
Gene Name minichromosome maintenance complex component 5
Synonyms mCD46, Mcmd5, Cdc46
MMRRC Submission 039286-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1217 (G1)
Quality Score 214
Status Validated
Chromosome 8
Chromosomal Location 75836197-75855067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75852919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 677 (K677R)
Ref Sequence ENSEMBL: ENSMUSP00000148525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164309] [ENSMUST00000212426] [ENSMUST00000212811]
AlphaFold P49718
Predicted Effect probably benign
Transcript: ENSMUST00000164309
AA Change: K677R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410
AA Change: K677R

DomainStartEndE-ValueType
MCM 133 649 N/A SMART
Blast:MCM 693 734 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211912
Predicted Effect probably benign
Transcript: ENSMUST00000212426
AA Change: K677R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212648
Predicted Effect probably benign
Transcript: ENSMUST00000212811
AA Change: K677R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0679 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.6%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the oligameric minichromosome maintenance protein complex. During DNA replication, the complex loads onto chromatin in early G1 and is converted into an active replicative helicase during S phase. It functions to limit DNA synthesis to once per cell cycle. During embryogenesis, the encoded protein is negatively regulated through expression of paired box protein Pax 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a A T 10: 75,169,049 (GRCm39) Y171F probably damaging Het
Agpat4 C T 17: 12,429,203 (GRCm39) R152W probably damaging Het
Aldh1a2 A G 9: 71,188,964 (GRCm39) N293D possibly damaging Het
Ash2l T C 8: 26,312,913 (GRCm39) N441S probably damaging Het
Asrgl1 A T 19: 9,093,864 (GRCm39) probably null Het
Capn3 C A 2: 120,316,902 (GRCm39) S277* probably null Het
Ccdc168 A T 1: 44,096,339 (GRCm39) S1586R possibly damaging Het
Ccp110 T C 7: 118,329,167 (GRCm39) probably benign Het
Cdh17 T C 4: 11,799,676 (GRCm39) V491A probably benign Het
Cep170b T C 12: 112,707,339 (GRCm39) S362P probably damaging Het
Cfap57 A G 4: 118,463,849 (GRCm39) S335P possibly damaging Het
Cmklr1 A T 5: 113,752,107 (GRCm39) L298Q probably damaging Het
Col4a4 A T 1: 82,466,730 (GRCm39) probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cyp2d26 A G 15: 82,677,068 (GRCm39) probably benign Het
Cyth3 T C 5: 143,688,575 (GRCm39) Y240H probably damaging Het
Dhx9 G A 1: 153,334,109 (GRCm39) T1017I probably damaging Het
Edar T C 10: 58,464,453 (GRCm39) Y62C probably damaging Het
Esyt3 C T 9: 99,200,097 (GRCm39) G699D possibly damaging Het
Fgb T C 3: 82,950,564 (GRCm39) T397A probably damaging Het
Foxc1 C A 13: 31,992,668 (GRCm39) A493E unknown Het
Grid1 T C 14: 34,542,186 (GRCm39) M1T probably null Het
Ipo4 T C 14: 55,871,816 (GRCm39) K113R probably damaging Het
Kif21b A G 1: 136,080,114 (GRCm39) E550G probably damaging Het
Krt1 T C 15: 101,757,416 (GRCm39) K265E possibly damaging Het
Lmx1a G A 1: 167,618,968 (GRCm39) R109H probably damaging Het
Metap1 A T 3: 138,180,791 (GRCm39) L130* probably null Het
Mrgpra4 A G 7: 47,631,085 (GRCm39) L172P probably benign Het
Mylip G A 13: 45,560,178 (GRCm39) E205K probably damaging Het
Myo3b A C 2: 70,161,224 (GRCm39) E1128A probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nlrp4d T C 7: 10,098,194 (GRCm39) I823V probably benign Het
Odad1 C T 7: 45,592,182 (GRCm39) probably benign Het
Rec114 A T 9: 58,573,103 (GRCm39) probably benign Het
Rimbp2 C T 5: 128,865,351 (GRCm39) A666T probably benign Het
Siva1 C T 12: 112,613,355 (GRCm39) Q68* probably null Het
Slc22a27 T A 19: 7,904,033 (GRCm39) I35F probably benign Het
Slco1a5 T A 6: 142,200,100 (GRCm39) N228I probably damaging Het
St8sia4 G A 1: 95,581,464 (GRCm39) R93C probably damaging Het
Tprg1 T C 16: 25,231,593 (GRCm39) S190P probably damaging Het
Trpc6 A G 9: 8,658,287 (GRCm39) probably null Het
Vmn2r70 C T 7: 85,208,269 (GRCm39) C736Y probably damaging Het
Zfp629 C T 7: 127,211,916 (GRCm39) probably benign Het
Zswim4 A G 8: 84,946,601 (GRCm39) V685A possibly damaging Het
Other mutations in Mcm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Mcm5 APN 8 75,851,573 (GRCm39) critical splice donor site probably null
IGL00954:Mcm5 APN 8 75,836,740 (GRCm39) missense possibly damaging 0.78
IGL02534:Mcm5 APN 8 75,840,861 (GRCm39) missense probably damaging 1.00
IGL03074:Mcm5 APN 8 75,845,929 (GRCm39) missense possibly damaging 0.94
IGL03176:Mcm5 APN 8 75,836,481 (GRCm39) missense possibly damaging 0.95
IGL03240:Mcm5 APN 8 75,842,530 (GRCm39) missense probably damaging 1.00
PIT4142001:Mcm5 UTSW 8 75,853,864 (GRCm39) missense probably benign
R0133:Mcm5 UTSW 8 75,847,539 (GRCm39) missense probably damaging 1.00
R0138:Mcm5 UTSW 8 75,847,508 (GRCm39) missense probably damaging 1.00
R0226:Mcm5 UTSW 8 75,852,880 (GRCm39) missense possibly damaging 0.90
R0733:Mcm5 UTSW 8 75,853,876 (GRCm39) missense probably benign 0.08
R1601:Mcm5 UTSW 8 75,845,982 (GRCm39) missense possibly damaging 0.87
R1834:Mcm5 UTSW 8 75,845,901 (GRCm39) missense possibly damaging 0.64
R1958:Mcm5 UTSW 8 75,848,257 (GRCm39) missense probably benign 0.34
R3410:Mcm5 UTSW 8 75,848,272 (GRCm39) missense possibly damaging 0.88
R4133:Mcm5 UTSW 8 75,842,482 (GRCm39) missense probably damaging 1.00
R4441:Mcm5 UTSW 8 75,839,172 (GRCm39) missense probably benign 0.39
R5395:Mcm5 UTSW 8 75,849,654 (GRCm39) missense probably benign
R5710:Mcm5 UTSW 8 75,847,538 (GRCm39) missense probably damaging 1.00
R5714:Mcm5 UTSW 8 75,847,538 (GRCm39) missense probably damaging 1.00
R6075:Mcm5 UTSW 8 75,840,825 (GRCm39) missense probably damaging 1.00
R6093:Mcm5 UTSW 8 75,836,374 (GRCm39) missense probably benign 0.06
R6477:Mcm5 UTSW 8 75,839,230 (GRCm39) missense probably benign 0.36
R6848:Mcm5 UTSW 8 75,853,918 (GRCm39) missense possibly damaging 0.88
R7098:Mcm5 UTSW 8 75,847,529 (GRCm39) missense probably damaging 1.00
R7208:Mcm5 UTSW 8 75,848,344 (GRCm39) critical splice donor site probably null
R7278:Mcm5 UTSW 8 75,851,487 (GRCm39) missense probably benign 0.40
R7552:Mcm5 UTSW 8 75,848,220 (GRCm39) missense probably damaging 0.99
R7701:Mcm5 UTSW 8 75,850,551 (GRCm39) missense probably benign 0.00
R9072:Mcm5 UTSW 8 75,852,934 (GRCm39) missense probably damaging 1.00
R9073:Mcm5 UTSW 8 75,852,934 (GRCm39) missense probably damaging 1.00
R9124:Mcm5 UTSW 8 75,851,418 (GRCm39) splice site probably benign
R9194:Mcm5 UTSW 8 75,836,962 (GRCm39) missense probably damaging 0.99
R9489:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9491:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9492:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9557:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9605:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9607:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9608:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9609:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9654:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9655:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9656:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9657:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9659:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9662:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9663:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9709:Mcm5 UTSW 8 75,842,604 (GRCm39) missense probably damaging 1.00
R9728:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9730:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9731:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9732:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9773:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9774:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9785:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9786:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9788:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
R9789:Mcm5 UTSW 8 75,844,168 (GRCm39) missense probably benign 0.03
Z1177:Mcm5 UTSW 8 75,848,300 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- TGAGTTGGAGATTTGAAGCCAGCC -3'
(R):5'- TCTGCTGAGCACAGAACACTGTATG -3'

Sequencing Primer
(F):5'- gcctctgtcacctttccc -3'
(R):5'- CACAGAACACTGTATGTGATGGC -3'
Posted On 2014-01-15