Incidental Mutation 'IGL02441:Cdc45'
ID293964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc45
Ensembl Gene ENSMUSG00000000028
Gene Namecell division cycle 45
SynonymsCdc45l
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02441
Quality Score
Status
Chromosome16
Chromosomal Location18780447-18811987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 18798729 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 200 (M200I)
Ref Sequence ENSEMBL: ENSMUSP00000000028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000096990]
Predicted Effect probably benign
Transcript: ENSMUST00000000028
AA Change: M200I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
AA Change: M200I

DomainStartEndE-ValueType
Pfam:CDC45 19 564 1.6e-152 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096990
AA Change: M154I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
AA Change: M154I

DomainStartEndE-ValueType
Pfam:CDC45 18 74 7.9e-24 PFAM
Pfam:CDC45 73 520 4.5e-138 PFAM
Meta Mutation Damage Score 0.1154 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 C T 7: 97,380,297 R179C probably benign Het
Als2 A G 1: 59,215,472 M242T probably damaging Het
Atad1 C T 19: 32,706,948 V17I probably benign Het
Bag4 A G 8: 25,768,108 V397A probably damaging Het
Brd7 A G 8: 88,343,590 V396A probably damaging Het
Cdhr4 T A 9: 107,993,267 I123N possibly damaging Het
Cep68 A G 11: 20,239,186 F609L probably benign Het
Clec3b C A 9: 123,151,113 P24T possibly damaging Het
Ctsg T A 14: 56,102,412 T9S probably benign Het
Dalrd3 A T 9: 108,571,526 probably benign Het
Dock6 A T 9: 21,841,926 V286E possibly damaging Het
Dpep2 G A 8: 105,985,091 A568V probably benign Het
Dph5 A C 3: 115,926,741 Q192P possibly damaging Het
Eppin T A 2: 164,591,778 R37* probably null Het
Esyt1 A G 10: 128,512,424 L865P possibly damaging Het
Exoc6b A G 6: 85,005,008 L102P probably damaging Het
Foxo6 A G 4: 120,268,035 I521T possibly damaging Het
Guca1a A T 17: 47,394,653 probably benign Het
Hpx A G 7: 105,592,223 F327S probably damaging Het
Hspa12b A G 2: 131,138,595 M145V probably null Het
Hspa4 A T 11: 53,270,982 S448T probably benign Het
Kbtbd6 T C 14: 79,453,319 Y422H probably benign Het
Lama4 A T 10: 39,061,445 D677V probably benign Het
Ldb1 C T 19: 46,035,756 E111K probably damaging Het
Macf1 A G 4: 123,387,236 S3823P probably damaging Het
Man1a2 G A 3: 100,591,873 T415I probably benign Het
Map3k2 T C 18: 32,200,046 probably benign Het
Morn5 T A 2: 36,055,026 Y87* probably null Het
Mpp3 T C 11: 102,009,675 D326G probably benign Het
Mrgprx1 T C 7: 48,021,588 H137R probably benign Het
Nav2 C A 7: 49,452,512 P292T probably damaging Het
Nlrp2 C A 7: 5,335,567 probably null Het
Noxo1 G A 17: 24,699,056 S112N probably damaging Het
Nudt9 G T 5: 104,065,019 K319N probably benign Het
Olfr885 A T 9: 38,061,937 I206L probably benign Het
Osbpl7 C A 11: 97,067,702 Q728K probably damaging Het
Pcsk1 A T 13: 75,132,163 E702D probably benign Het
Piezo2 T C 18: 63,072,862 D1492G probably damaging Het
Plekhg1 A G 10: 3,958,103 K1007E possibly damaging Het
Ppp6r3 G A 19: 3,464,693 P141S probably benign Het
Prrt3 T C 6: 113,497,016 T354A probably damaging Het
Ptk2 C A 15: 73,320,826 W181L probably benign Het
Rif1 T A 2: 52,105,515 H915Q probably benign Het
Selenbp2 G T 3: 94,704,064 V361L probably benign Het
Slamf7 A G 1: 171,641,057 L89P probably damaging Het
Slc6a21 G A 7: 45,288,081 V599M probably damaging Het
Sltm G T 9: 70,587,185 S921I probably damaging Het
Smc4 C A 3: 69,006,211 A44E probably damaging Het
Tdrd5 A T 1: 156,259,943 probably benign Het
Tead2 T A 7: 45,217,421 I68N probably damaging Het
Tnks1bp1 T A 2: 85,071,799 S1680T probably damaging Het
Topbp1 T C 9: 103,320,239 V386A possibly damaging Het
Tpx2 C A 2: 152,882,287 P328T possibly damaging Het
Ttn T A 2: 76,745,988 I24854F probably damaging Het
Zbtb11 G A 16: 55,974,189 R43H possibly damaging Het
Zfp609 A G 9: 65,703,329 L784S possibly damaging Het
Zfp703 T C 8: 26,980,008 S567P probably damaging Het
Zfp750 A G 11: 121,513,629 I140T probably benign Het
Other mutations in Cdc45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Cdc45 APN 16 18811561 missense probably damaging 1.00
IGL01677:Cdc45 APN 16 18787000 missense probably benign 0.02
IGL02079:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02080:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02105:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02106:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02237:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02238:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02239:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02371:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02442:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02465:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02466:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02468:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02469:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02470:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02471:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02472:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02473:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02489:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02490:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02491:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02492:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02511:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02558:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02559:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02560:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02561:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02562:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02566:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02567:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02576:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02583:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02589:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02626:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02627:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02628:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02629:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02687:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02688:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02689:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02720:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02724:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02731:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02738:Cdc45 APN 16 18798729 missense probably benign 0.06
IGL02991:Cdc45 UTSW 16 18798729 missense probably benign 0.06
R0051:Cdc45 UTSW 16 18794774 missense probably damaging 1.00
R0051:Cdc45 UTSW 16 18794774 missense probably damaging 1.00
R0458:Cdc45 UTSW 16 18781972 splice site probably benign
R1398:Cdc45 UTSW 16 18781971 splice site probably benign
R1413:Cdc45 UTSW 16 18808741 missense possibly damaging 0.63
R1792:Cdc45 UTSW 16 18807340 missense probably benign 0.01
R2919:Cdc45 UTSW 16 18808793 missense probably benign 0.00
R3956:Cdc45 UTSW 16 18805430 missense probably benign 0.00
R4079:Cdc45 UTSW 16 18811360 missense probably damaging 1.00
R4825:Cdc45 UTSW 16 18784863 missense probably damaging 0.98
R5028:Cdc45 UTSW 16 18795180 missense probably benign 0.43
R5214:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5215:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5309:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5311:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5312:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5352:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5353:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5354:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5355:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5356:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5424:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5426:Cdc45 UTSW 16 18795897 missense probably damaging 1.00
R5655:Cdc45 UTSW 16 18807279 critical splice donor site probably null
R6174:Cdc45 UTSW 16 18794704 intron probably null
R6796:Cdc45 UTSW 16 18784857 missense probably damaging 1.00
Posted On2015-04-16