Incidental Mutation 'R9786:Mcm5'
ID 734336
Institutional Source Beutler Lab
Gene Symbol Mcm5
Ensembl Gene ENSMUSG00000005410
Gene Name minichromosome maintenance complex component 5
Synonyms mCD46, Mcmd5, Cdc46
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9786 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 75836197-75855067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75844168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 313 (S313F)
Ref Sequence ENSEMBL: ENSMUSP00000126135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164309] [ENSMUST00000212426] [ENSMUST00000212811]
AlphaFold P49718
Predicted Effect probably benign
Transcript: ENSMUST00000164309
AA Change: S313F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410
AA Change: S313F

DomainStartEndE-ValueType
MCM 133 649 N/A SMART
Blast:MCM 693 734 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000212426
AA Change: S313F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000212811
AA Change: S313F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.9%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T A 9: 99,502,536 (GRCm39) M232K possibly damaging Het
Abcc1 T C 16: 14,222,927 (GRCm39) S243P probably damaging Het
Acsl1 T C 8: 46,974,486 (GRCm39) Y320H probably damaging Het
Adam11 A G 11: 102,653,090 (GRCm39) S61G probably benign Het
Adamts1 G A 16: 85,592,302 (GRCm39) T965I probably benign Het
Adcyap1r1 T A 6: 55,456,182 (GRCm39) M190K probably damaging Het
Ankrd2 T A 19: 42,033,358 (GRCm39) L300Q Het
Ankrd27 A T 7: 35,291,294 (GRCm39) Q30L possibly damaging Het
Atp8b5 T A 4: 43,305,798 (GRCm39) I114K probably damaging Het
Atrn A T 2: 130,786,809 (GRCm39) I205F probably damaging Het
BC035947 A G 1: 78,488,561 (GRCm39) probably benign Het
Boc C T 16: 44,311,692 (GRCm39) R677H Het
Calhm6 A G 10: 34,003,643 (GRCm39) F88S probably benign Het
Ccdc121rt3 T A 5: 112,502,939 (GRCm39) E255V probably benign Het
Dpysl3 G T 18: 43,462,922 (GRCm39) T485K probably damaging Het
Esyt3 T C 9: 99,194,038 (GRCm39) D867G possibly damaging Het
Fam178b G A 1: 36,603,517 (GRCm39) T478I probably damaging Het
Foxd2 G T 4: 114,764,850 (GRCm39) T390K possibly damaging Het
Furin A G 7: 80,040,645 (GRCm39) V731A probably benign Het
Grin2a T A 16: 9,471,466 (GRCm39) I601F possibly damaging Het
Hat1 G A 2: 71,250,959 (GRCm39) R169Q possibly damaging Het
Ighe G C 12: 113,236,851 (GRCm39) Q6E Het
Ighv8-2 T C 12: 114,426,179 (GRCm39) I31V probably benign Het
Klk1 A G 7: 43,878,104 (GRCm39) D120G probably damaging Het
Kmt2e A G 5: 23,702,982 (GRCm39) D1054G probably benign Het
Lamp5 A T 2: 135,910,998 (GRCm39) I244F probably damaging Het
Maco1 A T 4: 134,557,993 (GRCm39) Y173* probably null Het
Mfsd4b1 T C 10: 39,878,865 (GRCm39) E344G probably damaging Het
Mns1 A G 9: 72,346,556 (GRCm39) K13R probably benign Het
Mrpl43 C T 19: 44,994,346 (GRCm39) S91N probably benign Het
Mtbp T C 15: 55,481,032 (GRCm39) S706P probably benign Het
Nelfb A T 2: 25,095,145 (GRCm39) V348D probably damaging Het
Or1l8 T A 2: 36,817,416 (GRCm39) K237* probably null Het
Or5p72 A T 7: 108,021,924 (GRCm39) I49F probably benign Het
Or7g20 C T 9: 18,947,241 (GRCm39) A274V possibly damaging Het
Or8k18 G A 2: 86,085,428 (GRCm39) S203L probably benign Het
Or8s8 T C 15: 98,354,713 (GRCm39) I174T possibly damaging Het
Pde6c T C 19: 38,140,009 (GRCm39) I324T possibly damaging Het
Phlpp2 T A 8: 110,660,655 (GRCm39) L770* probably null Het
Pik3c2b T A 1: 133,019,338 (GRCm39) F1029I possibly damaging Het
Rfx2 A T 17: 57,087,890 (GRCm39) S500R probably benign Het
Sarm1 T C 11: 78,365,743 (GRCm39) M761V probably benign Het
Serpina1a A G 12: 103,822,140 (GRCm39) L264P possibly damaging Het
Slc37a1 G T 17: 31,556,965 (GRCm39) G377V probably damaging Het
Slc38a4 T A 15: 96,906,378 (GRCm39) M364L probably damaging Het
Slc7a15 A G 12: 8,580,280 (GRCm39) F384S probably benign Het
Smyd4 T C 11: 75,281,625 (GRCm39) V366A probably benign Het
Spata31d1b T A 13: 59,866,155 (GRCm39) V1101D possibly damaging Het
Spata31d1e C T 13: 59,890,498 (GRCm39) D441N possibly damaging Het
Stab2 C A 10: 86,757,997 (GRCm39) M1090I probably benign Het
Tex15 C T 8: 34,062,457 (GRCm39) T903I probably damaging Het
Tgds A T 14: 118,368,049 (GRCm39) Y41* probably null Het
Tle4 G T 19: 14,495,304 (GRCm39) H142N probably benign Het
Tlx2 T C 6: 83,046,274 (GRCm39) probably null Het
Tmem151a C G 19: 5,131,869 (GRCm39) A446P probably damaging Het
Tmem205 A T 9: 21,832,496 (GRCm39) D138E probably damaging Het
Tmprss9 A G 10: 80,734,042 (GRCm39) K1009E unknown Het
Tnk2 T A 16: 32,498,875 (GRCm39) C729* probably null Het
Trim46 T A 3: 89,142,399 (GRCm39) D696V probably damaging Het
Tuba3b G A 6: 145,564,482 (GRCm39) R84Q probably benign Het
Unc119b C T 5: 115,263,521 (GRCm39) D228N probably damaging Het
Usp17la A G 7: 104,510,864 (GRCm39) T490A probably benign Het
Zfp267 T A 3: 36,219,853 (GRCm39) C625* probably null Het
Zfp687 C T 3: 94,919,768 (GRCm39) M1I probably null Het
Zfp729a T C 13: 67,768,628 (GRCm39) T534A possibly damaging Het
Zfp985 A T 4: 147,668,047 (GRCm39) H305L probably benign Het
Zscan10 C T 17: 23,828,330 (GRCm39) Q291* probably null 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
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
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'- TTCCTGAGTAAGACTGTGTGCG -3'
(R):5'- GAACACACCTGGTCCTCATC -3'

Sequencing Primer
(F):5'- AGTAAGACTGTGTGCGTCCTCC -3'
(R):5'- TGCAGCAGCCTTGTCATCAG -3'
Posted On 2022-11-14