Incidental Mutation 'R9232:Cdc6'
ID 700310
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 068986-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # R9232 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98798627-98814766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 98801201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 151 (S151A)
Ref Sequence ENSEMBL: ENSMUSP00000091469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092706] [ENSMUST00000093937] [ENSMUST00000133779]
AlphaFold O89033
Predicted Effect possibly damaging
Transcript: ENSMUST00000092706
AA Change: S124A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499
AA Change: S124A

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 benign
Transcript: ENSMUST00000093937
AA Change: S151A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499
AA Change: S151A

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
AA Change: S124A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000118421
Gene: ENSMUSG00000017499
AA Change: S124A

DomainStartEndE-ValueType
PDB:2CCI|I 74 101 2e-6 PDB
AAA 196 348 4.17e-5 SMART
Meta Mutation Damage Score 0.0634 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (53/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 A T 18: 10,652,198 (GRCm39) S278T probably benign Het
Adgrf1 T C 17: 43,621,295 (GRCm39) Y511H probably benign Het
Atp5pd A G 11: 115,309,221 (GRCm39) F38S probably benign Het
Ceacam12 T A 7: 17,803,341 (GRCm39) M249K probably benign Het
Cenpt T C 8: 106,571,793 (GRCm39) Q446R probably damaging Het
Cnnm1 T A 19: 43,480,325 (GRCm39) S883T probably benign Het
Cntn6 T C 6: 104,815,781 (GRCm39) W721R probably damaging Het
Defb43 A G 14: 63,255,281 (GRCm39) K38R probably damaging Het
Eif2a T C 3: 58,463,022 (GRCm39) S522P probably benign Het
Erap1 T G 13: 74,811,637 (GRCm39) S332R probably benign Het
Foxa3 C A 7: 18,748,790 (GRCm39) R112L probably damaging Het
Foxf1 T A 8: 121,811,715 (GRCm39) M193K possibly damaging Het
Gbp11 T C 5: 105,476,290 (GRCm39) Y273C possibly damaging Het
Gli2 T A 1: 118,764,021 (GRCm39) T1377S probably benign Het
Gm10271 T A 10: 116,808,479 (GRCm39) L12F probably damaging Het
Grm5 G A 7: 87,723,591 (GRCm39) G627D probably damaging Het
Gtf3c4 A G 2: 28,724,848 (GRCm39) S295P probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Igsf10 G A 3: 59,243,843 (GRCm39) R164W probably damaging Het
Iqch T A 9: 63,329,200 (GRCm39) M1045L probably benign Het
Kcnt2 T C 1: 140,411,931 (GRCm39) S455P possibly damaging Het
Kif26b G A 1: 178,742,511 (GRCm39) G869E probably damaging Het
Kit A G 5: 75,799,792 (GRCm39) N508S probably benign Het
Lgals8 C T 13: 12,469,777 (GRCm39) V61M probably damaging Het
Lztr1 T C 16: 17,339,343 (GRCm39) V392A possibly damaging Het
Mad1l1 T A 5: 140,091,296 (GRCm39) M524L probably benign Het
Mob3b T C 4: 34,986,101 (GRCm39) N146D probably benign Het
Muc16 T C 9: 18,567,336 (GRCm39) T1728A unknown Het
Nlgn2 T C 11: 69,718,855 (GRCm39) H278R probably damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Plce1 A G 19: 38,705,423 (GRCm39) M943V probably benign Het
Pramel25 T G 4: 143,520,263 (GRCm39) L169R probably benign Het
Proser2 A G 2: 6,106,015 (GRCm39) L183P probably benign Het
Prss36 T C 7: 127,543,988 (GRCm39) I128V probably benign Het
Rabggta C T 14: 55,956,745 (GRCm39) V320I probably benign Het
Sepsecs A G 5: 52,823,344 (GRCm39) V125A probably benign Het
Sik3 C T 9: 46,123,216 (GRCm39) P1005L probably benign Het
Slc22a20 A T 19: 6,023,009 (GRCm39) I378N possibly damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Tap1 T C 17: 34,412,277 (GRCm39) V494A probably benign Het
Tg A G 15: 66,570,310 (GRCm39) D1394G probably benign Het
Tgfbr3 T C 5: 107,290,361 (GRCm39) T315A possibly damaging Het
Tmc2 A G 2: 130,085,049 (GRCm39) T559A probably damaging Het
Tph1 A G 7: 46,311,529 (GRCm39) I71T probably benign Het
Trib3 A T 2: 152,184,962 (GRCm39) C96S probably damaging Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Trim56 A G 5: 137,141,632 (GRCm39) V628A probably damaging Het
Ttc6 A G 12: 57,776,210 (GRCm39) Y1718C probably damaging Het
Tuft1 T C 3: 94,529,445 (GRCm39) Q244R probably benign Het
Unc13b A G 4: 43,240,321 (GRCm39) T793A probably benign Het
Vmn1r39 A G 6: 66,781,580 (GRCm39) I246T possibly damaging Het
Xpo1 T C 11: 23,232,646 (GRCm39) S389P probably benign Het
Zdbf2 T C 1: 63,347,168 (GRCm39) F1849S possibly damaging 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
R5943:Cdc6 UTSW 11 98,811,589 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- CGTTTCAGGCGATGACAACC -3'
(R):5'- GCCTGTGTCGGACAAATGAAC -3'

Sequencing Primer
(F):5'- GGCGATGACAACCTGTGCAAC -3'
(R):5'- TGTGTCGGACAAATGAACAATTAAAG -3'
Posted On 2022-02-07