Incidental Mutation 'R4441:Mcm5'
ID 392334
Institutional Source Beutler Lab
Gene Symbol Mcm5
Ensembl Gene ENSMUSG00000005410
Gene Name minichromosome maintenance complex component 5
Synonyms mCD46, Mcmd5, Cdc46
MMRRC Submission 041706-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4441 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 75836197-75855067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75839172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 142 (S142P)
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: S142P

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410
AA Change: S142P

DomainStartEndE-ValueType
MCM 133 649 N/A SMART
Blast:MCM 693 734 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000212426
AA Change: S142P

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000212811
AA Change: S142P

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.3553 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (53/55)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,127,024 (GRCm39) R1238S probably benign Het
Ankmy1 A T 1: 92,816,383 (GRCm39) Y244N possibly damaging Het
Asxl3 C T 18: 22,657,290 (GRCm39) P1767S probably damaging Het
C1qtnf7 A T 5: 43,766,612 (GRCm39) K70N possibly damaging Het
Cibar1 A G 4: 12,157,733 (GRCm39) M261T probably damaging Het
Fam78b C A 1: 166,906,491 (GRCm39) Q217K probably damaging Het
Garem1 T C 18: 21,301,807 (GRCm39) T127A possibly damaging Het
Gls A T 1: 52,235,322 (GRCm39) probably null Het
Gm12790 A C 4: 101,825,337 (GRCm39) S26A probably damaging Het
Gm136 T C 4: 34,755,911 (GRCm39) D34G probably benign Het
Gmds A G 13: 32,124,461 (GRCm39) probably null Het
Hdac9 G T 12: 34,439,375 (GRCm39) H401N probably damaging Het
Hmcn1 T C 1: 150,533,210 (GRCm39) I3026V probably null Het
Igkv6-20 A T 6: 70,313,101 (GRCm39) M24K probably damaging Het
Ilf2 T C 3: 90,394,769 (GRCm39) L339P probably benign Het
Insr T A 8: 3,244,902 (GRCm39) K501N probably benign Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mcpt9 A G 14: 56,265,009 (GRCm39) V164A probably damaging Het
Ncapd3 T A 9: 26,962,941 (GRCm39) D415E possibly damaging Het
Nfia T C 4: 97,661,150 (GRCm39) probably null Het
Nipbl G C 15: 8,396,142 (GRCm39) Q144E probably damaging Het
Or51g1 A T 7: 102,633,516 (GRCm39) V285E possibly damaging Het
Or51q1c T G 7: 103,653,279 (GRCm39) F266V probably damaging Het
Or6z5 T C 7: 6,477,924 (GRCm39) S272P probably benign Het
Pcdhgb8 A G 18: 37,896,114 (GRCm39) I395V possibly damaging Het
Plcz1 T A 6: 139,936,413 (GRCm39) L605F probably benign Het
Prph G A 15: 98,955,005 (GRCm39) S325N probably damaging Het
Ptpn23 A G 9: 110,221,793 (GRCm39) M131T probably benign Het
Rab3ip T G 10: 116,751,837 (GRCm39) D278A probably benign Het
Rasgrf2 T C 13: 92,131,797 (GRCm39) D620G possibly damaging Het
Rbm5 A G 9: 107,626,887 (GRCm39) probably benign Het
Rc3h2 A G 2: 37,304,526 (GRCm39) probably null Het
Saxo5 C T 8: 3,526,105 (GRCm39) S86L probably damaging Het
Tbxa2r T C 10: 81,168,925 (GRCm39) S205P probably damaging Het
Tenm4 A G 7: 96,545,022 (GRCm39) N2375S probably benign Het
Tespa1 C T 10: 130,197,826 (GRCm39) R283C probably damaging Het
Tle2 A G 10: 81,417,516 (GRCm39) E227G possibly damaging Het
Tnik A G 3: 28,618,246 (GRCm39) I266V possibly damaging Het
Tnn T G 1: 159,943,650 (GRCm39) E1054D probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm1 A G 7: 63,851,666 (GRCm39) D12G probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wdr7 T A 18: 63,888,281 (GRCm39) Y585N probably damaging Het
Zgrf1 T A 3: 127,379,786 (GRCm39) N223K 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
R1217:Mcm5 UTSW 8 75,852,919 (GRCm39) missense probably benign 0.01
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
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'- CTCTGCAAGGCCCTTGAAAAG -3'
(R):5'- TTGGCTACACACTCACATATTGC -3'

Sequencing Primer
(F):5'- GTGTATGAGGCTCCTGAACC -3'
(R):5'- ACTCACATATTGCACTTCCTGGG -3'
Posted On 2016-06-15