Incidental Mutation 'R5214:Cdc45'
ID 403375
Institutional Source Beutler Lab
Gene Symbol Cdc45
Ensembl Gene ENSMUSG00000000028
Gene Name cell division cycle 45
Synonyms Cdc45l
MMRRC Submission 042787-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5214 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 18599197-18630737 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18614647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 205 (R205H)
Ref Sequence ENSEMBL: ENSMUSP00000094753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000096990]
AlphaFold Q9Z1X9
Predicted Effect probably damaging
Transcript: ENSMUST00000000028
AA Change: R251H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
AA Change: R251H

DomainStartEndE-ValueType
Pfam:CDC45 19 564 1.6e-152 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000096990
AA Change: R205H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
AA Change: R205H

DomainStartEndE-ValueType
Pfam:CDC45 18 74 7.9e-24 PFAM
Pfam:CDC45 73 520 4.5e-138 PFAM
Meta Mutation Damage Score 0.1932 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (77/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik A G 3: 116,861,424 (GRCm39) noncoding transcript Het
4930449A18Rik A T 3: 59,733,305 (GRCm39) noncoding transcript Het
Acsbg3 T C 17: 57,193,493 (GRCm39) V613A probably benign Het
Adgrl1 G A 8: 84,642,202 (GRCm39) probably null Het
Aldh1l1 A G 6: 90,540,399 (GRCm39) D228G probably damaging Het
Ankrd17 T C 5: 90,431,319 (GRCm39) I822V possibly damaging Het
Atm C A 9: 53,402,327 (GRCm39) A1382S probably benign Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Cacna1e T A 1: 154,577,110 (GRCm39) I96F possibly damaging Het
Calhm5 A G 10: 33,968,487 (GRCm39) S189P probably damaging Het
Ccar1 G A 10: 62,606,740 (GRCm39) R335C probably damaging Het
Ccdc113 T C 8: 96,272,601 (GRCm39) I236T possibly damaging Het
Ccdc14 T A 16: 34,525,225 (GRCm39) S125T probably benign Het
Cdon T C 9: 35,394,504 (GRCm39) C917R probably damaging Het
Ckap2l T C 2: 129,127,389 (GRCm39) D263G probably benign Het
Cntnap3 G T 13: 64,909,824 (GRCm39) H760Q probably damaging Het
Dennd2d G A 3: 106,393,637 (GRCm39) probably null Het
Dock4 A G 12: 40,754,465 (GRCm39) I485V probably benign Het
Dspp A G 5: 104,326,364 (GRCm39) D909G unknown Het
Eps8 A T 6: 137,504,490 (GRCm39) M81K probably damaging Het
Fras1 T C 5: 96,917,452 (GRCm39) S3491P probably damaging Het
Gm17669 C T 18: 67,695,479 (GRCm39) T8I possibly damaging Het
Gm5114 G T 7: 39,057,792 (GRCm39) T609K probably benign Het
Gm973 A G 1: 59,565,880 (GRCm39) N32S probably damaging Het
Herpud1 G T 8: 95,117,479 (GRCm39) probably null Het
Jcad T A 18: 4,674,134 (GRCm39) L632Q probably damaging Het
Kcnh8 T C 17: 53,205,486 (GRCm39) L527S probably damaging Het
Klk1b11 C A 7: 43,647,266 (GRCm39) H67N probably benign Het
Ldhb T A 6: 142,441,321 (GRCm39) I190F probably damaging Het
Lrrc34 A T 3: 30,690,397 (GRCm39) C168* probably null Het
Lrtm1 C T 14: 28,743,651 (GRCm39) H40Y possibly damaging Het
Mageb3 T C 2: 121,785,319 (GRCm39) M128V possibly damaging Het
Miga2 A G 2: 30,261,208 (GRCm39) T90A probably benign Het
Msantd5 C A 11: 51,125,675 (GRCm39) H199Q possibly damaging Het
Ndrg1 G A 15: 66,831,239 (GRCm39) T24I probably damaging Het
Nos2 T C 11: 78,846,267 (GRCm39) L878P probably damaging Het
Or11g27 T G 14: 50,771,804 (GRCm39) *312E probably null Het
Pcdhgb1 T A 18: 37,814,478 (GRCm39) I323N probably damaging Het
Plec A G 15: 76,061,921 (GRCm39) I2537T probably damaging Het
Pnpo C A 11: 96,833,295 (GRCm39) E68D probably benign Het
Ppp6r1 C T 7: 4,646,176 (GRCm39) R175Q probably benign Het
Prnp C T 2: 131,778,924 (GRCm39) T192I probably damaging Het
Ptprb T C 10: 116,205,229 (GRCm39) I2148T possibly damaging Het
Raf1 G T 6: 115,614,583 (GRCm39) F99L possibly damaging Het
Rbks A G 5: 31,807,736 (GRCm39) probably benign Het
Rlf T C 4: 121,007,897 (GRCm39) D361G probably damaging Het
Rnpepl1 G T 1: 92,847,001 (GRCm39) D608Y probably benign Het
Scaf1 G A 7: 44,652,662 (GRCm39) probably benign Het
Sh3rf1 A T 8: 61,825,765 (GRCm39) M587L probably damaging Het
Slc22a21 A T 11: 53,843,869 (GRCm39) S473T probably damaging Het
Syt15 A G 14: 33,943,703 (GRCm39) D84G possibly damaging Het
Tbc1d19 T C 5: 54,007,183 (GRCm39) L236P probably benign Het
Tbx2 G T 11: 85,729,263 (GRCm39) A549S probably benign Het
Tc2n A T 12: 101,659,461 (GRCm39) C157* probably null Het
Tecta C T 9: 42,256,964 (GRCm39) V1571I probably benign Het
Them4 A G 3: 94,224,818 (GRCm39) K65R probably benign Het
Tmc5 C T 7: 118,247,155 (GRCm39) T553M probably damaging Het
Tmem200c C T 17: 69,148,122 (GRCm39) A235V probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Tmf1 G C 6: 97,144,253 (GRCm39) A701G possibly damaging Het
Tomm70a G A 16: 56,942,300 (GRCm39) G26S unknown Het
Treh T C 9: 44,594,173 (GRCm39) Y140H probably damaging Het
Ttc28 A G 5: 111,325,489 (GRCm39) probably benign Het
Uba7 T C 9: 107,854,713 (GRCm39) probably benign Het
Ube4a T C 9: 44,860,166 (GRCm39) I299V probably benign Het
Zfhx4 A C 3: 5,468,701 (GRCm39) K2953T probably damaging Het
Zfp280d T A 9: 72,215,395 (GRCm39) probably benign Het
Zscan20 G A 4: 128,482,109 (GRCm39) R518C probably benign Het
Zw10 T C 9: 48,975,463 (GRCm39) I296T 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
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
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
Predicted Primers PCR Primer
(F):5'- GGACATGGGTGGTTCTATCAC -3'
(R):5'- ATTGACTGTGTGGGCTAGACAC -3'

Sequencing Primer
(F):5'- GGTTCTATCACCATAGTAACGAAAC -3'
(R):5'- TATCTCAGTACCTAAAGATGGGGC -3'
Posted On 2016-07-22