Incidental Mutation 'R2938:Cdc6'
ID 256120
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 040515-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # R2938 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98798627-98814766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98801586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 217 (I217V)
Ref Sequence ENSEMBL: ENSMUSP00000118421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092706] [ENSMUST00000093937] [ENSMUST00000133779]
AlphaFold O89033
Predicted Effect probably benign
Transcript: ENSMUST00000092706
AA Change: I217V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499
AA Change: I217V

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: I244V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499
AA Change: I244V

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: I217V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118421
Gene: ENSMUSG00000017499
AA Change: I217V

DomainStartEndE-ValueType
PDB:2CCI|I 74 101 2e-6 PDB
AAA 196 348 4.17e-5 SMART
Meta Mutation Damage Score 0.0638 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 T A 2: 166,736,653 (GRCm39) I1775K probably damaging Het
Arhgap45 T A 10: 79,864,836 (GRCm39) M933K probably damaging Het
Astn2 A T 4: 65,910,550 (GRCm39) H427Q possibly damaging Het
Bace2 T C 16: 97,213,388 (GRCm39) probably null Het
Cacna1b A G 2: 24,496,540 (GRCm39) V125A probably benign Het
Cbarp T C 10: 79,967,603 (GRCm39) D539G probably damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc73 T A 2: 104,805,980 (GRCm39) L296* probably null Het
Cd40 G C 2: 164,911,622 (GRCm39) V191L probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdr1 T G X: 60,228,968 (GRCm39) D66A unknown Het
Cela3b A G 4: 137,150,574 (GRCm39) I208T probably benign Het
Col1a2 A T 6: 4,520,788 (GRCm39) Q375L possibly damaging Het
Csn1s1 A T 5: 87,824,995 (GRCm39) Q221L possibly damaging Het
Cstl1 T A 2: 148,592,977 (GRCm39) I44N possibly damaging Het
Depdc5 G A 5: 33,058,965 (GRCm39) probably null Het
Dthd1 A G 5: 63,000,300 (GRCm39) I541V probably benign Het
Eml6 G A 11: 29,783,049 (GRCm39) probably benign Het
Fkbp15 T A 4: 62,222,900 (GRCm39) T1000S probably benign Het
Gimap8 A T 6: 48,635,730 (GRCm39) R498S possibly damaging Het
Glis1 A G 4: 107,489,488 (GRCm39) N692D possibly damaging Het
Gpr83 A G 9: 14,776,167 (GRCm39) T163A probably benign Het
Hmgcr G A 13: 96,799,576 (GRCm39) L173F probably damaging Het
Htr2b T A 1: 86,030,177 (GRCm39) I173F possibly damaging Het
Ifna11 T C 4: 88,738,530 (GRCm39) L112P probably damaging Het
Lmod1 A G 1: 135,291,654 (GRCm39) K170E probably benign Het
Lrrtm1 A T 6: 77,220,635 (GRCm39) M31L probably benign Het
Macf1 T C 4: 123,326,695 (GRCm39) N2815S probably damaging Het
Man1c1 A G 4: 134,430,263 (GRCm39) I173T possibly damaging Het
Man2b2 A G 5: 36,978,330 (GRCm39) I318T probably benign Het
Mib1 T A 18: 10,752,033 (GRCm39) probably benign Het
Myo10 T A 15: 25,795,803 (GRCm39) S1315T probably damaging Het
Nsun5 C T 5: 135,404,317 (GRCm39) Q375* probably null Het
Opcml A G 9: 27,702,682 (GRCm39) M1V probably null Het
Or4d5 A T 9: 40,012,039 (GRCm39) I249K probably benign Het
Or5m3 T C 2: 85,838,357 (GRCm39) M79T probably damaging Het
Or6c66b T A 10: 129,376,484 (GRCm39) F26Y probably damaging Het
Parm1 T C 5: 91,742,328 (GRCm39) I232T possibly damaging Het
Pdss1 T A 2: 22,796,799 (GRCm39) probably null Het
Pfkfb2 G A 1: 130,633,147 (GRCm39) T202I possibly damaging Het
Postn T A 3: 54,277,731 (GRCm39) F242Y probably damaging Het
Prss12 A G 3: 123,280,625 (GRCm39) T437A probably benign Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rbm10 T C X: 20,513,934 (GRCm39) L429P possibly damaging Het
Saraf A G 8: 34,635,735 (GRCm39) N346D probably benign Het
Sec31b T C 19: 44,524,618 (GRCm39) D93G probably damaging Het
Sgcg A T 14: 61,467,074 (GRCm39) F175L probably damaging Het
Sh3rf2 A G 18: 42,282,789 (GRCm39) D449G probably benign Het
Slc9a3 T C 13: 74,269,788 (GRCm39) I52T possibly damaging Het
Tcf7 A T 11: 52,173,610 (GRCm39) probably null Het
Tlr1 A G 5: 65,083,251 (GRCm39) V442A probably damaging Het
Tmub1 A G 5: 24,650,922 (GRCm39) *261Q probably null Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Utp4 A G 8: 107,649,561 (GRCm39) D670G probably damaging Het
Vamp5 A G 6: 72,346,323 (GRCm39) V91A probably benign Het
Vmn1r35 A T 6: 66,655,950 (GRCm39) M73K possibly damaging Het
Vmn2r12 C T 5: 109,239,397 (GRCm39) E389K probably damaging Het
Wdsub1 T C 2: 59,703,630 (GRCm39) T112A possibly damaging Het
Xpo4 G T 14: 57,841,897 (GRCm39) Q473K probably benign Het
Xpo7 A G 14: 70,909,130 (GRCm39) I797T probably damaging Het
Zfp808 G A 13: 62,319,032 (GRCm39) V67M 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
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
R9232:Cdc6 UTSW 11 98,801,201 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GCTATCAGCAAGCCAAGCTC -3'
(R):5'- TCTAGGAAGCAGTCAATCTCCC -3'

Sequencing Primer
(F):5'- AGCTCGTCCTGAATACAGCTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2014-12-29