Incidental Mutation 'IGL02738:Cdc45'
ID 305735
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 # IGL02738
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,466,792 (GRCm39) probably benign Het
Akr1c21 A T 13: 4,630,300 (GRCm39) N198Y probably damaging Het
Anapc11 A T 11: 120,490,102 (GRCm39) K6I probably benign Het
Angel1 G A 12: 86,752,060 (GRCm39) L554F probably benign Het
Arhgap11a A T 2: 113,663,320 (GRCm39) *988K probably null Het
Arnt T A 3: 95,402,631 (GRCm39) probably null Het
Atp1a3 T A 7: 24,689,901 (GRCm39) D519V possibly damaging Het
Bdp1 C A 13: 100,187,861 (GRCm39) A1575S probably benign Het
Bglap G A 3: 88,291,715 (GRCm39) T3I unknown Het
Brca2 C T 5: 150,490,500 (GRCm39) P3054L probably damaging Het
Btn2a2 C A 13: 23,662,976 (GRCm39) E316* probably null Het
C1qtnf9 C T 14: 61,017,388 (GRCm39) T306I probably benign Het
Caprin2 T C 6: 148,744,360 (GRCm39) T1022A probably damaging Het
Cd109 T C 9: 78,598,581 (GRCm39) Y940H probably damaging Het
Cd300ld A G 11: 114,875,076 (GRCm39) L186S probably benign Het
Chd6 A T 2: 160,807,618 (GRCm39) S1865R probably benign Het
Chrna2 T C 14: 66,386,889 (GRCm39) V345A probably benign Het
Dnah1 T G 14: 31,014,597 (GRCm39) E1756A probably benign Het
Dnah3 C T 7: 119,564,720 (GRCm39) A2637T probably benign Het
Ern2 A G 7: 121,782,122 (GRCm39) F80S probably damaging Het
Ero1b A G 13: 12,619,322 (GRCm39) I439V possibly damaging Het
Eva1a T G 6: 82,048,211 (GRCm39) S30A probably benign Het
Fer1l4 A G 2: 155,887,648 (GRCm39) L516P probably benign Het
Garin2 T A 12: 78,780,989 (GRCm39) probably benign Het
Hexim2 T C 11: 103,029,103 (GRCm39) S52P probably damaging Het
Hoxb9 A T 11: 96,165,554 (GRCm39) M208L possibly damaging Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lcn10 G A 2: 25,574,032 (GRCm39) probably benign Het
Letm2 A G 8: 26,076,789 (GRCm39) I271T probably damaging Het
Lrrc34 T C 3: 30,685,441 (GRCm39) S303G possibly damaging Het
Matn2 C A 15: 34,388,885 (GRCm39) A325D probably benign Het
Mboat4 T C 8: 34,582,258 (GRCm39) L4P probably damaging Het
Mmp1a T A 9: 7,464,301 (GRCm39) probably benign Het
Naip2 T A 13: 100,325,685 (GRCm39) R74S probably benign Het
Neb G T 2: 52,133,862 (GRCm39) Q3374K probably damaging Het
Nup210l A G 3: 90,044,157 (GRCm39) E486G possibly damaging Het
Or4b13 A G 2: 90,082,699 (GRCm39) I211T possibly damaging Het
Or4k51 A C 2: 111,584,699 (GRCm39) Y35S probably damaging Het
Or5m12 A G 2: 85,735,293 (GRCm39) V35A probably benign Het
Or6c69 A T 10: 129,747,200 (GRCm39) probably benign Het
Pde8a A C 7: 80,976,090 (GRCm39) N677H probably damaging Het
Plag1 G A 4: 3,903,812 (GRCm39) Q460* probably null Het
Podnl1 A G 8: 84,858,824 (GRCm39) T550A probably benign Het
Ptpn22 A G 3: 103,781,382 (GRCm39) probably benign Het
Pycr3 A T 15: 75,790,565 (GRCm39) I98N probably damaging Het
Rtn4r A G 16: 17,969,052 (GRCm39) Y160C probably damaging Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc2a4 A G 11: 69,836,940 (GRCm39) Y43H probably damaging Het
Sorbs1 A T 19: 40,365,348 (GRCm39) L145Q probably damaging Het
Speer2 A T 16: 69,658,600 (GRCm39) S22T probably benign Het
Sugp2 G T 8: 70,696,449 (GRCm39) G474V probably damaging Het
Syt3 C T 7: 44,035,447 (GRCm39) S18L possibly damaging Het
Tacc1 T C 8: 25,691,159 (GRCm39) E48G probably damaging Het
Tdrd6 A G 17: 43,931,337 (GRCm39) V2083A probably benign Het
Thra A T 11: 98,655,185 (GRCm39) H355L probably benign Het
Tmem35b C T 4: 127,019,981 (GRCm39) Q34* probably null Het
Unk G T 11: 115,947,017 (GRCm39) G537V probably damaging Het
Usp32 T A 11: 84,974,632 (GRCm39) D92V probably damaging Het
Vmn1r209 G T 13: 22,990,290 (GRCm39) Y133* probably null Het
Vmn1r42 A G 6: 89,821,630 (GRCm39) V313A possibly damaging Het
Vnn1 A G 10: 23,780,520 (GRCm39) I503V probably benign Het
Vwa2 G A 19: 56,886,361 (GRCm39) G143R possibly damaging 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
IGL02079:Cdc45 APN 16 18,617,479 (GRCm39) missense probably benign 0.06
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
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 2015-04-16