Incidental Mutation 'R1792:Cdc45'
ID 201871
Institutional Source Beutler Lab
Gene Symbol Cdc45
Ensembl Gene ENSMUSG00000000028
Gene Name cell division cycle 45
Synonyms Cdc45l
MMRRC Submission 039822-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1792 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 18599197-18630737 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18626090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 142 (D142E)
Ref Sequence ENSEMBL: ENSMUSP00000000028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000005394] [ENSMUST00000096990] [ENSMUST00000115578] [ENSMUST00000115585] [ENSMUST00000168822] [ENSMUST00000172013] [ENSMUST00000171789]
AlphaFold Q9Z1X9
Predicted Effect probably benign
Transcript: ENSMUST00000000028
AA Change: D142E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
AA Change: D142E

DomainStartEndE-ValueType
Pfam:CDC45 19 564 1.6e-152 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000005394
SMART Domains Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262

DomainStartEndE-ValueType
Pfam:UFD1 18 194 2.1e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096990
AA Change: D96E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
AA Change: D96E

DomainStartEndE-ValueType
Pfam:CDC45 18 74 7.9e-24 PFAM
Pfam:CDC45 73 520 4.5e-138 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115578
SMART Domains Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262

DomainStartEndE-ValueType
Pfam:UFD1 19 194 6.1e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115585
SMART Domains Protein: ENSMUSP00000111248
Gene: ENSMUSG00000000028

DomainStartEndE-ValueType
Pfam:CDC45 18 136 5.7e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168822
Predicted Effect probably benign
Transcript: ENSMUST00000172013
SMART Domains Protein: ENSMUSP00000128186
Gene: ENSMUSG00000005262

DomainStartEndE-ValueType
PDB:2YUJ|A 11 36 2e-12 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232311
Predicted Effect probably benign
Transcript: ENSMUST00000171789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231819
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.4%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 C T 11: 110,074,870 (GRCm39) V1398I probably benign Het
Ackr3 A T 1: 90,142,620 (GRCm39) N360Y probably benign Het
Acr T G 15: 89,457,346 (GRCm39) M198R probably benign Het
Adamts14 A T 10: 61,054,277 (GRCm39) M585K probably benign Het
Adgrb3 A T 1: 25,267,552 (GRCm39) C853S probably damaging Het
Arhgef28 G T 13: 98,067,694 (GRCm39) S1410R probably benign Het
Asprv1 T A 6: 86,605,354 (GRCm39) F67I possibly damaging Het
Atp8b4 T A 2: 126,167,214 (GRCm39) Y1095F probably benign Het
Cadps A G 14: 12,449,802 (GRCm38) S1136P possibly damaging Het
Ccdc57 T C 11: 120,788,707 (GRCm39) Q380R possibly damaging Het
Cs A T 10: 128,195,948 (GRCm39) N386Y possibly damaging Het
Dsc3 A T 18: 20,120,055 (GRCm39) V201E probably damaging Het
Dusp26 G T 8: 31,581,963 (GRCm39) R19L probably benign Het
Esyt3 C A 9: 99,240,169 (GRCm39) E92* probably null Het
Ext2 T C 2: 93,534,890 (GRCm39) N625D probably damaging Het
Flvcr2 A T 12: 85,793,929 (GRCm39) K102* probably null Het
Fmnl2 T A 2: 52,932,329 (GRCm39) S103T possibly damaging Het
Fmo4 T A 1: 162,621,859 (GRCm39) I451F probably benign Het
Gak A T 5: 108,733,397 (GRCm39) Y47* probably null Het
Gbp10 A T 5: 105,372,166 (GRCm39) L198Q probably damaging Het
Gm11559 T A 11: 99,755,755 (GRCm39) S135T unknown Het
Gm14496 A T 2: 181,637,946 (GRCm39) D340V probably benign Het
Grin2a T C 16: 9,810,259 (GRCm39) T47A possibly damaging Het
Gtf2ird1 A T 5: 134,395,790 (GRCm39) probably null Het
Herc4 T A 10: 63,081,680 (GRCm39) M1K probably null Het
Hirip3 T A 7: 126,461,792 (GRCm39) V29E probably damaging Het
Hs3st5 A G 10: 36,708,720 (GRCm39) D85G probably benign Het
Htt T A 5: 35,064,543 (GRCm39) S2981T probably damaging Het
Iho1 A C 9: 108,282,111 (GRCm39) S526A possibly damaging Het
Il20ra G A 10: 19,635,384 (GRCm39) V542I probably damaging Het
Itgb2l C A 16: 96,226,282 (GRCm39) C603F probably damaging Het
Klhl41 A C 2: 69,501,146 (GRCm39) K202N probably benign Het
Lct G A 1: 128,255,679 (GRCm39) S121F possibly damaging Het
Lhx6 C T 2: 35,977,387 (GRCm39) G355D probably damaging Het
Limk2 A G 11: 3,308,236 (GRCm39) V121A probably benign Het
Med1 T G 11: 98,048,109 (GRCm39) K896Q probably damaging Het
Muc6 A G 7: 141,214,371 (GRCm39) F2789S probably benign Het
Nemf T A 12: 69,359,343 (GRCm39) Y997F probably damaging Het
Nrap A G 19: 56,367,590 (GRCm39) S296P probably benign Het
Nrxn1 T C 17: 90,896,252 (GRCm39) N961D probably damaging Het
Odad2 T C 18: 7,286,743 (GRCm39) T163A probably benign Het
Or1r1 A C 11: 73,874,673 (GRCm39) S254A probably benign Het
Or6c207 A T 10: 129,105,112 (GRCm39) F27I probably benign Het
Or6y1 T C 1: 174,276,303 (GRCm39) V38A probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdk4 T A 6: 5,489,166 (GRCm39) H247L probably damaging Het
Pkd1l3 T A 8: 110,359,237 (GRCm39) V866E probably damaging Het
Pla2g4e G A 2: 119,998,955 (GRCm39) P803L probably damaging Het
Pnisr T C 4: 21,860,968 (GRCm39) V217A possibly damaging Het
Pole4 G A 6: 82,629,720 (GRCm39) P34L unknown Het
Pole4 G T 6: 82,629,721 (GRCm39) P34T unknown Het
Ptchd3 G A 11: 121,732,377 (GRCm39) W422* probably null Het
Rab1b C T 19: 5,150,513 (GRCm39) A167T probably benign Het
Rasal1 T C 5: 120,802,821 (GRCm39) M359T probably benign Het
Rexo4 T C 2: 26,850,248 (GRCm39) N310D probably benign Het
Rgma C T 7: 73,067,585 (GRCm39) T280M probably damaging Het
Rnaset2a A T 17: 8,364,408 (GRCm39) I43N probably damaging Het
Rtcb A T 10: 85,778,446 (GRCm39) V399E probably damaging Het
Scd4 T G 19: 44,326,013 (GRCm39) Y122* probably null Het
Sirt6 T C 10: 81,462,355 (GRCm39) I15V possibly damaging Het
Slamf8 A T 1: 172,415,526 (GRCm39) V104E possibly damaging Het
Slc12a4 A G 8: 106,678,475 (GRCm39) I285T possibly damaging Het
Slc25a13 G A 6: 6,115,104 (GRCm39) A207V possibly damaging Het
Slc6a21 T C 7: 44,930,155 (GRCm39) S185P probably benign Het
Smarcc2 A C 10: 128,299,740 (GRCm39) N135T probably damaging Het
Susd6 T C 12: 80,921,065 (GRCm39) S221P probably damaging Het
Syne1 C T 10: 4,990,975 (GRCm39) G8418D probably damaging Het
Tasor2 T C 13: 3,640,559 (GRCm39) K193E possibly damaging Het
Tbc1d7 C T 13: 43,318,853 (GRCm39) V95I probably benign Het
Tcerg1l T C 7: 137,963,595 (GRCm39) D225G probably benign Het
Tfip11 A T 5: 112,477,263 (GRCm39) I82F possibly damaging Het
Tmem41a C T 16: 21,755,731 (GRCm39) G192S probably null Het
Trrap G A 5: 144,790,396 (GRCm39) A3619T possibly damaging Het
Tspoap1 G A 11: 87,656,707 (GRCm39) probably null Het
Wfdc21 T C 11: 83,637,883 (GRCm39) S11P probably benign Het
Zc2hc1b A T 10: 13,044,474 (GRCm39) V63E probably 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
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
Predicted Primers PCR Primer
(F):5'- AAGGCAGAGTCTGTTCTTACACAC -3'
(R):5'- TTGGGAGCAGCTGATTAAGG -3'

Sequencing Primer
(F):5'- GAGTCTGTTCTTACACACATTAACC -3'
(R):5'- TTGGGAGCAGCTGATTAAGGAAAAG -3'
Posted On 2014-06-23