Incidental Mutation 'IGL02491:Cdc45'
ID 295631
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 # IGL02491
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,067,794 (GRCm39) probably benign Het
Acacb T A 5: 114,330,166 (GRCm39) I443N probably damaging Het
C1qtnf3 A T 15: 10,972,067 (GRCm39) I118F possibly damaging Het
Carmil3 C T 14: 55,741,974 (GRCm39) A1148V probably benign Het
Ccdc62 A T 5: 124,099,378 (GRCm39) S677C probably damaging Het
Col11a2 C A 17: 34,283,181 (GRCm39) probably benign Het
Cpsf7 A G 19: 10,517,001 (GRCm39) I368V possibly damaging Het
Csmd2 T C 4: 128,428,050 (GRCm39) S2934P probably benign Het
Csmd3 A G 15: 47,777,511 (GRCm39) probably benign Het
Cubn A G 2: 13,326,039 (GRCm39) Y2709H probably damaging Het
Cyp2d12 T A 15: 82,442,682 (GRCm39) L375Q possibly damaging Het
Etv4 A T 11: 101,674,791 (GRCm39) probably null Het
Exph5 T A 9: 53,286,343 (GRCm39) D1141E possibly damaging Het
Fbxo16 T A 14: 65,558,736 (GRCm39) H298Q probably benign Het
Fbxw21 T A 9: 108,972,887 (GRCm39) Y349F probably benign Het
Foxs1 G A 2: 152,774,721 (GRCm39) R111C probably damaging Het
Galnt15 T A 14: 31,778,273 (GRCm39) L436Q probably damaging Het
Gbf1 T C 19: 46,250,979 (GRCm39) probably benign Het
Gm8237 A T 14: 5,863,577 (GRCm38) C29* probably null Het
Hcn1 A G 13: 117,946,576 (GRCm39) D317G unknown Het
Itgam A G 7: 127,715,190 (GRCm39) N877D possibly damaging Het
Kcnma1 T C 14: 23,361,757 (GRCm39) R1047G probably damaging Het
Klhdc3 T C 17: 46,988,226 (GRCm39) R180G possibly damaging Het
Lpcat2 T C 8: 93,600,879 (GRCm39) V241A probably damaging Het
Mnat1 A G 12: 73,170,682 (GRCm39) N24S probably null Het
Mprip A G 11: 59,660,857 (GRCm39) T967A probably benign Het
Mtf1 T C 4: 124,732,372 (GRCm39) F477L probably benign Het
Naaladl1 A G 19: 6,159,748 (GRCm39) E393G possibly damaging Het
Or10ak7 A T 4: 118,791,358 (GRCm39) L229H probably damaging Het
Or2at1 A G 7: 99,416,540 (GRCm39) E57G possibly damaging Het
Or5e1 A G 7: 108,354,321 (GRCm39) K86R probably damaging Het
Pcdhb6 A T 18: 37,468,735 (GRCm39) D552V probably damaging Het
Pglyrp3 C T 3: 91,921,944 (GRCm39) S4F possibly damaging Het
Pramel13 A T 4: 144,121,322 (GRCm39) M234K probably damaging Het
Prss27 A T 17: 24,263,229 (GRCm39) probably benign Het
Slc5a9 A G 4: 111,753,549 (GRCm39) S51P probably damaging Het
Slc6a4 A G 11: 76,918,034 (GRCm39) Y592C probably damaging Het
Slc7a13 T A 4: 19,841,404 (GRCm39) V417D probably damaging Het
Spring1 T C 5: 118,397,160 (GRCm39) Y130H probably benign Het
Syne2 A G 12: 76,118,953 (GRCm39) T5857A probably benign Het
Thap1 A C 8: 26,650,885 (GRCm39) S52R probably damaging Het
Thsd4 T C 9: 59,907,301 (GRCm39) N158S probably damaging Het
Tmem147 A T 7: 30,427,626 (GRCm39) probably benign Het
Trdmt1 G A 2: 13,521,483 (GRCm39) A311V probably benign Het
U2surp T A 9: 95,372,273 (GRCm39) R296S probably damaging Het
Upf2 A G 2: 6,030,975 (GRCm39) D805G unknown Het
Usp34 T A 11: 23,382,630 (GRCm39) H2057Q probably damaging Het
Vmn2r110 T A 17: 20,816,400 (GRCm39) D41V probably damaging Het
Vmn2r16 T A 5: 109,487,703 (GRCm39) L192* probably null Het
Vnn3 T A 10: 23,741,816 (GRCm39) S374T probably benign Het
Wdr62 A C 7: 29,942,184 (GRCm39) D1089E probably benign Het
Xdh T A 17: 74,193,459 (GRCm39) D1279V probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp518b A G 5: 38,831,123 (GRCm39) I294T possibly damaging Het
Zfp983 G A 17: 21,876,528 (GRCm39) probably null 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
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 2015-04-16