Incidental Mutation 'R5279:Cdc6'
ID 404128
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 042839-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # R5279 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98798627-98814766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98803088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 316 (I316F)
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: I316F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499
AA Change: I316F

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 possibly damaging
Transcript: ENSMUST00000093937
AA Change: I343F

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499
AA Change: I343F

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 damaging
Transcript: ENSMUST00000133779
AA Change: I315F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118421
Gene: ENSMUSG00000017499
AA Change: I315F

DomainStartEndE-ValueType
PDB:2CCI|I 74 101 2e-6 PDB
AAA 196 348 4.17e-5 SMART
Meta Mutation Damage Score 0.4311 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (73/74)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C A 17: 24,508,388 (GRCm39) G1049V probably damaging Het
Afdn G A 17: 14,109,214 (GRCm39) R1579H probably damaging Het
Ankrd28 T A 14: 31,456,963 (GRCm39) N386Y probably damaging Het
Atf7ip T A 6: 136,580,377 (GRCm39) Y1100* probably null Het
Atp9b T A 18: 80,956,073 (GRCm39) E3V probably damaging Het
AW554918 T G 18: 25,308,488 (GRCm39) D60E possibly damaging Het
Baz2b G T 2: 59,762,496 (GRCm39) Q927K probably damaging Het
Birc6 A G 17: 74,957,042 (GRCm39) R3659G probably damaging Het
C8a T G 4: 104,703,185 (GRCm39) N291H probably damaging Het
Calcoco1 G A 15: 102,619,420 (GRCm39) L390F probably damaging Het
Carmil3 A G 14: 55,739,028 (GRCm39) D894G probably damaging Het
Cdc20 A G 4: 118,290,711 (GRCm39) Y430H probably damaging Het
Ceacam23 T A 7: 17,607,214 (GRCm39) noncoding transcript Het
Cenpu T A 8: 47,031,945 (GRCm39) probably null Het
Csmd2 T A 4: 128,350,707 (GRCm39) V1592D probably benign Het
Csmd3 G T 15: 48,655,340 (GRCm39) probably null Het
Dnah7c T C 1: 46,558,429 (GRCm39) F512L probably benign Het
Fam136a T A 6: 86,343,686 (GRCm39) L61Q probably damaging Het
Fpgs A C 2: 32,582,779 (GRCm39) probably benign Het
Fzd4 G A 7: 89,056,881 (GRCm39) M309I probably benign Het
Gad2 A G 2: 22,563,969 (GRCm39) T391A probably benign Het
Gm11563 A T 11: 99,549,539 (GRCm39) S72T unknown Het
Gon4l A G 3: 88,794,944 (GRCm39) I716V probably benign Het
Itga9 T C 9: 118,457,273 (GRCm39) V128A probably damaging Het
Kat6a CGCAGCAGCAGCAGCAGCA CGCAGCAGCAGCA 8: 23,429,664 (GRCm39) probably benign Het
Lrrc9 T A 12: 72,542,368 (GRCm39) D1063E possibly damaging Het
Lyst T A 13: 13,823,387 (GRCm39) L1453* probably null Het
Mcm3ap T C 10: 76,343,373 (GRCm39) V1755A probably damaging Het
Mrc1 T C 2: 14,314,869 (GRCm39) S985P probably damaging Het
Mst1 A C 9: 107,959,414 (GRCm39) K233N probably damaging Het
Nr2c2ap G A 8: 70,584,653 (GRCm39) D42N probably damaging Het
Ntn1 A G 11: 68,276,538 (GRCm39) S137P probably benign Het
Pard3 T C 8: 128,186,867 (GRCm39) probably null Het
Pcdh15 T A 10: 74,430,015 (GRCm39) D1210E probably damaging Het
Pcdhga5 T C 18: 37,827,774 (GRCm39) L74P probably benign Het
Pcsk5 T C 19: 17,573,022 (GRCm39) probably null Het
Pdia3 T C 2: 121,244,484 (GRCm39) probably benign Het
Pikfyve A T 1: 65,235,858 (GRCm39) R177* probably null Het
Pklr A G 3: 89,050,566 (GRCm39) E409G probably damaging Het
Plod2 T C 9: 92,463,376 (GRCm39) Y154H probably damaging Het
Psmc3 T A 2: 90,884,667 (GRCm39) D6E probably benign Het
Ptpru T A 4: 131,547,334 (GRCm39) N205I possibly damaging Het
Rbm6 T C 9: 107,655,213 (GRCm39) E1006G probably benign Het
Rgl2 T C 17: 34,154,922 (GRCm39) V642A probably benign Het
Rnf8 T A 17: 29,845,680 (GRCm39) H104Q possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rpa1 T C 11: 75,204,170 (GRCm39) N269S probably damaging Het
Sdk2 A G 11: 113,757,857 (GRCm39) M519T probably benign Het
Snx30 A G 4: 59,885,070 (GRCm39) S237G probably benign Het
Spx A G 6: 142,359,766 (GRCm39) N36S probably damaging Het
Stard7 T C 2: 127,137,416 (GRCm39) Y289H probably damaging Het
Sugp2 T C 8: 70,709,757 (GRCm39) probably benign Het
Susd4 C T 1: 182,715,043 (GRCm39) T288I probably damaging Het
Tceanc2 T A 4: 107,034,826 (GRCm39) probably null Het
Tm4sf4 T G 3: 57,341,159 (GRCm39) V97G probably benign Het
Tmtc1 C T 6: 148,256,629 (GRCm39) probably benign Het
Trappc11 C T 8: 47,958,339 (GRCm39) probably benign Het
Triobp G T 15: 78,878,591 (GRCm39) V398F possibly damaging Het
Ttll9 T A 2: 152,804,464 (GRCm39) S2T possibly damaging Het
Ttn T C 2: 76,731,320 (GRCm39) probably benign Het
Tyw3 A G 3: 154,300,108 (GRCm39) C80R probably damaging Het
Usp24 T C 4: 106,242,621 (GRCm39) V1177A possibly damaging Het
Vmn1r65 A G 7: 6,011,754 (GRCm39) V160A probably damaging Het
Vmn2r104 T A 17: 20,262,146 (GRCm39) H328L probably benign Het
Vmn2r65 A C 7: 84,589,849 (GRCm39) I689S probably damaging Het
Wrn A G 8: 33,731,129 (GRCm39) Y1068H probably damaging Het
Xpo4 C A 14: 57,850,866 (GRCm39) S346I probably benign Het
Zc3h3 T A 15: 75,711,439 (GRCm39) T341S probably benign Het
Zxdc T C 6: 90,347,419 (GRCm39) M260T 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
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
R9232:Cdc6 UTSW 11 98,801,201 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGTCGACCTACCAACCTAAGG -3'
(R):5'- CAGGCTTCAGACCTCAGAAG -3'

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