Incidental Mutation 'IGL03074:Mcm5'
ID417612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcm5
Ensembl Gene ENSMUSG00000005410
Gene Nameminichromosome maintenance complex component 5
SynonymsCdc46, mCD46, Mcmd5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03074
Quality Score
Status
Chromosome8
Chromosomal Location75109569-75128439 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75119301 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 379 (M379T)
Ref Sequence ENSEMBL: ENSMUSP00000148525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164309] [ENSMUST00000212426] [ENSMUST00000212811]
Predicted Effect possibly damaging
Transcript: ENSMUST00000164309
AA Change: M379T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410
AA Change: M379T

DomainStartEndE-ValueType
MCM 133 649 N/A SMART
Blast:MCM 693 734 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211912
Predicted Effect possibly damaging
Transcript: ENSMUST00000212426
AA Change: M379T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212648
Predicted Effect possibly damaging
Transcript: ENSMUST00000212811
AA Change: M379T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,310,275 Y433F probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anks4b A T 7: 120,181,917 D57V probably damaging Het
Brwd1 A G 16: 96,011,850 V1486A probably benign Het
Cd163 A G 6: 124,317,986 T670A probably benign Het
Dmtf1 T C 5: 9,124,435 probably benign Het
Dnajc22 T A 15: 99,101,522 L196Q probably damaging Het
Dock9 A G 14: 121,607,270 L1097P possibly damaging Het
Dtna T C 18: 23,602,605 V339A possibly damaging Het
Dysf T A 6: 84,188,226 S1646T probably benign Het
Ermp1 A T 19: 29,612,535 Y893N probably damaging Het
Etv6 A T 6: 134,222,925 N76I probably damaging Het
Farp2 T C 1: 93,560,327 V92A probably benign Het
Fgf21 T C 7: 45,614,181 T158A probably benign Het
Gcm1 T C 9: 78,064,775 S333P possibly damaging Het
Grm7 T A 6: 111,495,643 probably null Het
Itgae T C 11: 73,125,310 F782L probably benign Het
Kbtbd8 A G 6: 95,122,352 T204A probably damaging Het
Kcp A G 6: 29,496,631 C627R probably damaging Het
Loxhd1 T C 18: 77,441,784 V2041A possibly damaging Het
Mcu A G 10: 59,467,758 S86P probably damaging Het
Naa25 T C 5: 121,408,337 probably null Het
Olfr1129 T A 2: 87,575,336 L84H possibly damaging Het
Olfr1472 A G 19: 13,454,053 S155P probably damaging Het
Osbpl9 T C 4: 109,071,961 H400R probably damaging Het
Pip5kl1 A G 2: 32,580,341 N278D probably damaging Het
Ppp1r12b T C 1: 134,836,020 T759A probably benign Het
Psg27 T C 7: 18,560,529 T318A probably benign Het
Rtkn2 T G 10: 68,041,721 L537R probably damaging Het
Sdr39u1 C T 14: 55,899,646 probably null Het
Slc38a1 A T 15: 96,592,524 I124N possibly damaging Het
Sumf2 T A 5: 129,859,833 probably benign Het
Thsd7a A G 6: 12,324,681 Y1464H probably damaging Het
Unc80 C T 1: 66,671,718 probably benign Het
Zfp366 A G 13: 99,246,405 D692G probably benign Het
Other mutations in Mcm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Mcm5 APN 8 75124945 critical splice donor site probably null
IGL00954:Mcm5 APN 8 75110112 missense possibly damaging 0.78
IGL02534:Mcm5 APN 8 75114233 missense probably damaging 1.00
IGL03176:Mcm5 APN 8 75109853 missense possibly damaging 0.95
IGL03240:Mcm5 APN 8 75115902 missense probably damaging 1.00
PIT4142001:Mcm5 UTSW 8 75127236 missense probably benign
R0133:Mcm5 UTSW 8 75120911 missense probably damaging 1.00
R0138:Mcm5 UTSW 8 75120880 missense probably damaging 1.00
R0226:Mcm5 UTSW 8 75126252 missense possibly damaging 0.90
R0733:Mcm5 UTSW 8 75127248 missense probably benign 0.08
R1217:Mcm5 UTSW 8 75126291 missense probably benign 0.01
R1601:Mcm5 UTSW 8 75119354 missense possibly damaging 0.87
R1834:Mcm5 UTSW 8 75119273 missense possibly damaging 0.64
R1958:Mcm5 UTSW 8 75121629 missense probably benign 0.34
R3410:Mcm5 UTSW 8 75121644 missense possibly damaging 0.88
R4133:Mcm5 UTSW 8 75115854 missense probably damaging 1.00
R4441:Mcm5 UTSW 8 75112544 missense probably benign 0.39
R5395:Mcm5 UTSW 8 75123026 missense probably benign
R5710:Mcm5 UTSW 8 75120910 missense probably damaging 1.00
R5714:Mcm5 UTSW 8 75120910 missense probably damaging 1.00
R6075:Mcm5 UTSW 8 75114197 missense probably damaging 1.00
R6093:Mcm5 UTSW 8 75109746 missense probably benign 0.06
R6477:Mcm5 UTSW 8 75112602 missense probably benign 0.36
R6848:Mcm5 UTSW 8 75127290 missense possibly damaging 0.88
R7098:Mcm5 UTSW 8 75120901 missense probably damaging 1.00
R7208:Mcm5 UTSW 8 75121716 critical splice donor site probably null
R7278:Mcm5 UTSW 8 75124859 missense probably benign 0.40
R7552:Mcm5 UTSW 8 75121592 missense probably damaging 0.99
R7701:Mcm5 UTSW 8 75123923 missense probably benign 0.00
Z1177:Mcm5 UTSW 8 75121672 missense possibly damaging 0.52
Posted On2016-08-02