Incidental Mutation 'IGL02079:Cdc45'
ID 186049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc45
Ensembl Gene ENSMUSG00000000028
Gene Name cell division cycle 45
Synonyms Cdc45l
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02079
Quality Score
Status
Chromosome 16
Chromosomal Location 18599197-18630737 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18617479 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9Z1X9
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T C 2: 31,579,960 (GRCm39) probably benign Het
Ago4 A T 4: 126,410,877 (GRCm39) M204K probably damaging Het
Alms1 T C 6: 85,605,616 (GRCm39) V2422A probably damaging Het
Ap5z1 T C 5: 142,462,868 (GRCm39) probably null Het
Arsa T C 15: 89,357,554 (GRCm39) T470A probably benign Het
Bri3bp T C 5: 125,531,753 (GRCm39) V233A probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Elapor1 T A 3: 108,388,675 (GRCm39) N236I possibly damaging Het
Ephb6 T A 6: 41,592,948 (GRCm39) D395E possibly damaging Het
Flt1 T A 5: 147,505,641 (GRCm39) probably benign Het
Fry A T 5: 150,323,089 (GRCm39) N1080I probably damaging Het
Gdpgp1 T A 7: 79,888,768 (GRCm39) D266E probably benign Het
Gspt1 A G 16: 11,058,693 (GRCm39) S123P probably benign Het
Kctd17 T C 15: 78,314,356 (GRCm39) probably benign Het
Lamb2 T A 9: 108,359,312 (GRCm39) C313S probably damaging Het
Lcor T A 19: 41,544,126 (GRCm39) S106R probably benign Het
Lgr5 A C 10: 115,288,099 (GRCm39) S776R probably damaging Het
Mettl16 T G 11: 74,708,450 (GRCm39) C510G probably damaging Het
Mlip T C 9: 77,146,811 (GRCm39) T101A possibly damaging Het
Myh6 A T 14: 55,187,998 (GRCm39) L1152Q probably damaging Het
Mylk G A 16: 34,681,001 (GRCm39) R87H possibly damaging Het
Npepl1 C T 2: 173,961,183 (GRCm39) probably benign Het
Nrxn1 A T 17: 90,950,511 (GRCm39) M548K probably damaging Het
Or10a48 T A 7: 108,425,143 (GRCm39) E21V probably damaging Het
Or4c11c T A 2: 88,661,991 (GRCm39) C177S probably damaging Het
Pate3 T A 9: 35,557,449 (GRCm39) Q69L probably damaging Het
Piwil1 T C 5: 128,819,067 (GRCm39) V192A possibly damaging Het
Plcxd2 A T 16: 45,792,706 (GRCm39) I211N probably benign Het
Plekhg3 T A 12: 76,607,203 (GRCm39) Y88N probably benign Het
Rabgap1l C T 1: 160,566,540 (GRCm39) C58Y probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rusc2 A G 4: 43,425,668 (GRCm39) S1258G probably benign Het
Scn1a T C 2: 66,153,704 (GRCm39) R710G probably benign Het
Wwc1 A G 11: 35,766,885 (GRCm39) S457P probably damaging Het
Xdh C T 17: 74,198,272 (GRCm39) G1205D probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp592 T C 7: 80,688,978 (GRCm39) S1080P probably benign Het
Other mutations in Cdc45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Cdc45 APN 16 18,630,311 (GRCm39) missense probably damaging 1.00
IGL01677:Cdc45 APN 16 18,605,750 (GRCm39) missense probably benign 0.02
IGL02080:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02105:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02106:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02237:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02238:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02239:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02371:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02441:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02442:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02465:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02466:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02468:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02469:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02470:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02471:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02472:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02473:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02489:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02490:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02491:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02492:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02511:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02558:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02559:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02560:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02561:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02562:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02566:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02567:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02576:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02583:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02589:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02626:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02627:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02628:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02629:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02687:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02688:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02689:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02720:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02724:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02731:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02738:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
IGL02991:Cdc45 UTSW 16 18,617,479 (GRCm39) missense probably benign 0.06
R0051:Cdc45 UTSW 16 18,613,524 (GRCm39) missense probably damaging 1.00
R0051:Cdc45 UTSW 16 18,613,524 (GRCm39) missense probably damaging 1.00
R0458:Cdc45 UTSW 16 18,600,722 (GRCm39) splice site probably benign
R1398:Cdc45 UTSW 16 18,600,721 (GRCm39) splice site probably benign
R1413:Cdc45 UTSW 16 18,627,491 (GRCm39) missense possibly damaging 0.63
R1792:Cdc45 UTSW 16 18,626,090 (GRCm39) missense probably benign 0.01
R2919:Cdc45 UTSW 16 18,627,543 (GRCm39) missense probably benign 0.00
R3956:Cdc45 UTSW 16 18,624,180 (GRCm39) missense probably benign 0.00
R4079:Cdc45 UTSW 16 18,630,110 (GRCm39) missense probably damaging 1.00
R4825:Cdc45 UTSW 16 18,603,613 (GRCm39) missense probably damaging 0.98
R5028:Cdc45 UTSW 16 18,613,930 (GRCm39) missense probably benign 0.43
R5214:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5215:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5309:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5311:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5312:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5352:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5353:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5354:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5355:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5356:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5424:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5426:Cdc45 UTSW 16 18,614,647 (GRCm39) missense probably damaging 1.00
R5655:Cdc45 UTSW 16 18,626,029 (GRCm39) critical splice donor site probably null
R6174:Cdc45 UTSW 16 18,613,454 (GRCm39) splice site probably null
R6796:Cdc45 UTSW 16 18,603,607 (GRCm39) missense probably damaging 1.00
R7910:Cdc45 UTSW 16 18,629,203 (GRCm39) missense probably damaging 0.98
R8519:Cdc45 UTSW 16 18,627,597 (GRCm39) missense probably damaging 1.00
R8987:Cdc45 UTSW 16 18,630,300 (GRCm39) missense probably benign
R9221:Cdc45 UTSW 16 18,605,521 (GRCm39) missense probably benign 0.08
Posted On 2014-05-07