Incidental Mutation 'R5943:Cdc6'
ID 460438
Institutional Source Beutler Lab
Gene Symbol Cdc6
Ensembl Gene ENSMUSG00000017499
Gene Name cell division cycle 6
Synonyms CDC18(S.pombe), CDC18L, cell division cycle 18 homolog (S.pombe)-like
MMRRC Submission 044135-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # R5943 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 98798627-98814766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98811589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 517 (S517P)
Ref Sequence ENSEMBL: ENSMUSP00000090382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092706] [ENSMUST00000093937] [ENSMUST00000133779]
AlphaFold O89033
Predicted Effect probably damaging
Transcript: ENSMUST00000092706
AA Change: S517P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499
AA Change: S517P

DomainStartEndE-ValueType
PDB:2CCI|I 74 101 3e-6 PDB
AAA 196 349 2.75e-5 SMART
Cdc6_C 467 547 7.14e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000093937
AA Change: S544P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499
AA Change: S544P

DomainStartEndE-ValueType
PDB:2CCI|I 102 128 1e-5 PDB
AAA 223 376 2.75e-5 SMART
Cdc6_C 494 574 7.14e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133779
SMART Domains Protein: ENSMUSP00000118421
Gene: ENSMUSG00000017499

DomainStartEndE-ValueType
PDB:2CCI|I 74 101 2e-6 PDB
AAA 196 348 4.17e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135862
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
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 is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C A 17: 45,828,637 (GRCm39) Q671K probably benign Het
Acaa2 A G 18: 74,925,453 (GRCm39) H72R probably damaging Het
Acad8 A G 9: 26,910,740 (GRCm39) L18P probably benign Het
Acap3 T C 4: 155,983,879 (GRCm39) V115A possibly damaging Het
Adamts9 T C 6: 92,880,767 (GRCm39) T503A probably benign Het
Adcy1 T C 11: 7,111,337 (GRCm39) F876S probably damaging Het
Adgrv1 T C 13: 81,534,985 (GRCm39) E5760G probably damaging Het
Ankrd26 A T 6: 118,482,707 (GRCm39) I1631K probably damaging Het
Ccdc150 A G 1: 54,339,526 (GRCm39) T457A probably benign Het
Cd163 T C 6: 124,306,561 (GRCm39) *1160R probably null Het
Cenpf A T 1: 189,392,166 (GRCm39) D555E possibly damaging Het
Cfap251 A G 5: 123,424,420 (GRCm39) T205A probably benign Het
Clcn1 T A 6: 42,269,900 (GRCm39) I241N probably damaging Het
Clrn2 A T 5: 45,621,061 (GRCm39) I152F probably benign Het
Col4a4 A G 1: 82,502,737 (GRCm39) I349T unknown Het
Coq8b T A 7: 26,933,428 (GRCm39) F96L probably damaging Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Dcst1 A T 3: 89,263,718 (GRCm39) probably null Het
Dhrs3 A T 4: 144,646,546 (GRCm39) M199L possibly damaging Het
Dido1 A T 2: 180,303,675 (GRCm39) S1410T probably benign Het
Dnase1l2 C T 17: 24,661,721 (GRCm39) A13T probably damaging Het
Duox1 G A 2: 122,163,916 (GRCm39) R861Q probably benign Het
Eya2 A G 2: 165,566,609 (GRCm39) H220R probably damaging Het
Fas T G 19: 34,297,987 (GRCm39) probably null Het
Fezf1 T A 6: 23,246,948 (GRCm39) K295* probably null Het
Gldn T G 9: 54,245,721 (GRCm39) I424R possibly damaging Het
Gnptab T C 10: 88,269,376 (GRCm39) V693A probably benign Het
Gsdma A T 11: 98,563,852 (GRCm39) T269S probably benign Het
Hectd4 A T 5: 121,460,357 (GRCm39) T2209S probably benign Het
Hoxd3 A G 2: 74,577,173 (GRCm39) N351S probably benign Het
Itpkc T A 7: 26,912,404 (GRCm39) N581I possibly damaging Het
Kank3 G T 17: 34,037,375 (GRCm39) E226D probably damaging Het
Krtap5-1 A G 7: 141,850,788 (GRCm39) S7P unknown Het
Lrriq3 A G 3: 154,869,587 (GRCm39) Y304C probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mdn1 T C 4: 32,678,330 (GRCm39) S653P probably damaging Het
Mri1 A T 8: 84,980,948 (GRCm39) L194* probably null Het
Mtus1 T C 8: 41,537,302 (GRCm39) E138G probably benign Het
Myo3b G A 2: 70,117,285 (GRCm39) R906Q probably benign Het
Nckipsd C T 9: 108,689,435 (GRCm39) P199S possibly damaging Het
Or52n5 T A 7: 104,587,850 (GRCm39) I39N possibly damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pacsin1 T C 17: 27,925,045 (GRCm39) L253P probably damaging Het
Pcca T A 14: 122,896,188 (GRCm39) I268N probably damaging Het
Pcdhga8 A G 18: 37,949,565 (GRCm39) D327G probably damaging Het
Pcnx4 A G 12: 72,626,232 (GRCm39) H1146R probably damaging Het
Pnma8b T C 7: 16,680,362 (GRCm39) S449P probably benign Het
Psmb9 T C 17: 34,403,265 (GRCm39) E61G probably damaging Het
Pxylp1 A G 9: 96,721,203 (GRCm39) Y101H probably damaging Het
Radil A G 5: 142,471,213 (GRCm39) I1044T probably damaging Het
Rnf43 G A 11: 87,622,561 (GRCm39) R554H probably damaging Het
Sp5 A T 2: 70,305,659 (GRCm39) Q17L probably null Het
Spmip1 T A 6: 29,471,908 (GRCm39) L128Q possibly damaging Het
Strn C A 17: 78,977,276 (GRCm39) V211F probably damaging Het
Sult3a1 A G 10: 33,742,637 (GRCm39) D88G probably damaging Het
Trim14 T C 4: 46,522,136 (GRCm39) I180M probably benign Het
Tsnax C A 8: 125,751,278 (GRCm39) S90* probably null Het
Ttn A G 2: 76,798,780 (GRCm39) M498T probably benign Het
Vmn1r198 T A 13: 22,539,367 (GRCm39) Y195* probably null Het
Vmn2r70 T C 7: 85,215,199 (GRCm39) T112A probably benign Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Yme1l1 G T 2: 23,058,342 (GRCm39) R158L probably damaging Het
Zc2hc1c C A 12: 85,336,483 (GRCm39) H47N probably damaging Het
Zc3h10 C A 10: 128,381,396 (GRCm39) probably benign Het
Zfp825 T C 13: 74,629,007 (GRCm39) R170G probably benign Het
Other mutations in Cdc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Cdc6 APN 11 98,799,597 (GRCm39) missense probably benign 0.07
IGL01611:Cdc6 APN 11 98,805,989 (GRCm39) missense probably benign 0.00
IGL02202:Cdc6 APN 11 98,811,641 (GRCm39) critical splice donor site probably null
IGL03090:Cdc6 APN 11 98,810,122 (GRCm39) nonsense probably null
R1482:Cdc6 UTSW 11 98,807,807 (GRCm39) missense possibly damaging 0.50
R1559:Cdc6 UTSW 11 98,803,037 (GRCm39) missense probably damaging 1.00
R1768:Cdc6 UTSW 11 98,803,043 (GRCm39) missense probably damaging 1.00
R2044:Cdc6 UTSW 11 98,801,287 (GRCm39) missense probably benign 0.23
R2183:Cdc6 UTSW 11 98,799,524 (GRCm39) nonsense probably null
R2356:Cdc6 UTSW 11 98,810,118 (GRCm39) missense probably benign
R2938:Cdc6 UTSW 11 98,801,586 (GRCm39) missense probably benign 0.00
R4723:Cdc6 UTSW 11 98,799,657 (GRCm39) critical splice donor site probably null
R5279:Cdc6 UTSW 11 98,803,088 (GRCm39) missense probably damaging 1.00
R6514:Cdc6 UTSW 11 98,810,118 (GRCm39) missense probably benign
R7088:Cdc6 UTSW 11 98,810,065 (GRCm39) missense probably damaging 1.00
R7387:Cdc6 UTSW 11 98,799,042 (GRCm39) intron probably benign
R7662:Cdc6 UTSW 11 98,807,836 (GRCm39) missense probably benign 0.02
R7662:Cdc6 UTSW 11 98,801,438 (GRCm39) missense possibly damaging 0.49
R7677:Cdc6 UTSW 11 98,810,191 (GRCm39) nonsense probably null
R9130:Cdc6 UTSW 11 98,802,999 (GRCm39) missense probably damaging 1.00
R9232:Cdc6 UTSW 11 98,801,201 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TAAGACACAGTTTCTGGGCTTC -3'
(R):5'- TGGCCCGAATCACATCACTC -3'

Sequencing Primer
(F):5'- ACAGTTTCTGGGCTTCTTTCTTTTTG -3'
(R):5'- CCGAATCACATCACTCCGTTG -3'
Posted On 2017-02-28