Incidental Mutation 'IGL00094:Mcm5'
ID178068
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 #IGL00094
Quality Score
Status
Chromosome8
Chromosomal Location75109569-75128439 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 75124945 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164309] [ENSMUST00000212426] [ENSMUST00000212811]
Predicted Effect probably null
Transcript: ENSMUST00000164309
SMART Domains Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410

DomainStartEndE-ValueType
MCM 133 649 N/A SMART
Blast:MCM 693 734 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211912
Predicted Effect probably null
Transcript: ENSMUST00000212426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212648
Predicted Effect probably null
Transcript: ENSMUST00000212811
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik A G 11: 101,990,820 E114G possibly damaging Het
Aacs T A 5: 125,514,190 N547K probably benign Het
Abca13 A G 11: 9,297,443 T2397A probably benign Het
Abcc1 A G 16: 14,470,534 N1341S probably null Het
Adcy9 T A 16: 4,304,582 I535L probably benign Het
Akap6 A G 12: 53,140,980 S1726G possibly damaging Het
Ap3d1 T C 10: 80,741,979 M5V probably benign Het
Ash1l T A 3: 88,981,712 N299K probably benign Het
B3gnt2 C T 11: 22,836,151 V346I probably benign Het
Ceacam14 G A 7: 17,814,137 V51I probably damaging Het
Cfap69 T C 5: 5,584,682 D812G probably damaging Het
Chrna9 T C 5: 65,969,257 V118A probably benign Het
Cpsf7 A G 19: 10,539,787 R418G probably damaging Het
Csnk1g3 T C 18: 53,919,003 Y215H probably damaging Het
Dcaf5 A C 12: 80,339,323 N676K probably benign Het
Dld A T 12: 31,335,577 M255K probably benign Het
Esr2 A T 12: 76,133,896 L417H probably damaging Het
Fsip2 T A 2: 82,990,386 S5488T probably benign Het
Gatb A T 3: 85,601,920 I130L possibly damaging Het
Gbp9 T C 5: 105,081,264 K506E probably benign Het
Hkdc1 T C 10: 62,393,789 N703S probably damaging Het
Itgb3 T A 11: 104,633,584 V182E probably damaging Het
Itih4 A T 14: 30,895,469 Y582F probably damaging Het
Lancl2 T A 6: 57,724,537 probably benign Het
Lgals3 A G 14: 47,384,718 K197R probably benign Het
Lipe T C 7: 25,383,552 T767A probably damaging Het
Lrp2 T A 2: 69,507,779 D1219V probably damaging Het
Lrriq3 T A 3: 155,101,061 C116S probably benign Het
Mtpn G T 6: 35,522,776 T31K probably damaging Het
Mycbp2 A T 14: 103,223,050 Y1494N probably damaging Het
Nbeal1 G T 1: 60,235,191 E498* probably null Het
Nos1 T G 5: 117,910,100 S657A probably damaging Het
Nr3c1 A T 18: 39,428,608 probably null Het
Olfr1126 T A 2: 87,457,927 V254E probably damaging Het
Olfr1262 T A 2: 90,003,021 I205N possibly damaging Het
Olfr1502 A T 19: 13,861,786 probably benign Het
Olfr281 T G 15: 98,456,418 V36G possibly damaging Het
Olfr44 T C 9: 39,484,648 I202V probably benign Het
Olfr45 A T 7: 140,691,436 H177L probably damaging Het
Olfr851 T A 9: 19,496,859 I37N probably damaging Het
Osbp2 T G 11: 3,711,848 S735R probably benign Het
Otop3 A T 11: 115,344,453 T304S probably benign Het
Pcdhac2 A T 18: 37,145,075 L369F probably damaging Het
Pick1 T C 15: 79,247,257 probably benign Het
Prlhr A T 19: 60,467,681 V149E probably damaging Het
Prss12 G A 3: 123,486,949 probably benign Het
Rab19 A T 6: 39,388,198 probably benign Het
Ralgapb T C 2: 158,420,856 W5R probably damaging Het
Rfx4 T A 10: 84,840,199 L44Q probably damaging Het
Scube2 T C 7: 109,808,454 T760A probably damaging Het
Shcbp1 A C 8: 4,754,258 Y145* probably null Het
Snx31 T A 15: 36,545,616 probably null Het
Spopl A T 2: 23,537,631 V163E possibly damaging Het
Sqor T C 2: 122,787,543 I107T probably damaging Het
Tcte1 T C 17: 45,534,928 F153L probably damaging Het
Tnfrsf11b T A 15: 54,259,842 H121L probably damaging Het
Tnip1 G T 11: 54,940,817 Y10* probably null Het
Tnxb G T 17: 34,685,629 G1123C probably damaging Het
Wdr62 T C 7: 30,243,523 E515G probably benign Het
Zfand1 A T 3: 10,348,530 D32E probably null Het
Zfp112 A C 7: 24,122,243 T3P probably damaging Het
Other mutations in Mcm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Mcm5 APN 8 75110112 missense possibly damaging 0.78
IGL02534:Mcm5 APN 8 75114233 missense probably damaging 1.00
IGL03074:Mcm5 APN 8 75119301 missense possibly damaging 0.94
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 On2014-05-07