Incidental Mutation 'IGL01611:Cdc6'
ID 92092
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # IGL01611
Quality Score
Status
Chromosome 11
Chromosomal Location 98798627-98814766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98805989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 388 (I388V)
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: I389V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499
AA Change: I389V

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: I416V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499
AA Change: I416V

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: I388V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118421
Gene: ENSMUSG00000017499
AA Change: I388V

DomainStartEndE-ValueType
PDB:2CCI|I 74 101 2e-6 PDB
AAA 196 348 4.17e-5 SMART
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,954,644 (GRCm39) L209S possibly damaging Het
Abcc2 G T 19: 43,815,068 (GRCm39) V1152F probably damaging Het
Adam9 C T 8: 25,457,212 (GRCm39) V639I probably benign Het
Chrm5 C T 2: 112,310,651 (GRCm39) W155* probably null Het
Chrna9 A G 5: 66,128,287 (GRCm39) D161G probably damaging Het
Det1 A G 7: 78,477,702 (GRCm39) V541A possibly damaging Het
Efhc1 G T 1: 21,060,911 (GRCm39) *649L probably null Het
Ehbp1 C T 11: 22,122,883 (GRCm39) V146M probably damaging Het
Enam A C 5: 88,651,608 (GRCm39) D1039A probably damaging Het
Fam20b A T 1: 156,530,035 (GRCm39) V133E probably benign Het
Frem2 T A 3: 53,563,130 (GRCm39) Q459L probably benign Het
Gapdhs C T 7: 30,429,866 (GRCm39) probably benign Het
Gm3404 T A 5: 146,465,157 (GRCm39) V299D possibly damaging Het
Gorasp2 C A 2: 70,519,604 (GRCm39) H310N possibly damaging Het
Gpr157 T C 4: 150,186,094 (GRCm39) S219P possibly damaging Het
Gpt2 T A 8: 86,246,167 (GRCm39) C375* probably null Het
Gtf2h3 T C 5: 124,733,748 (GRCm39) S274P probably damaging Het
Hmg20b C T 10: 81,183,309 (GRCm39) V83M probably benign Het
Igf2r G T 17: 12,944,302 (GRCm39) Y400* probably null Het
Ipo9 A T 1: 135,314,431 (GRCm39) W942R possibly damaging Het
Iqch T C 9: 63,403,519 (GRCm39) probably null Het
Kcnh3 T C 15: 99,127,383 (GRCm39) L393P probably benign Het
Kcnk12 T A 17: 88,104,495 (GRCm39) I130L probably benign Het
Lcorl T C 5: 45,904,434 (GRCm39) T205A probably damaging Het
Lpar6 G T 14: 73,476,878 (GRCm39) A280S probably damaging Het
Mgarp A T 3: 51,296,570 (GRCm39) V152E probably damaging Het
Pard3b A G 1: 62,677,021 (GRCm39) D1184G probably damaging Het
Pcnt A G 10: 76,272,258 (GRCm39) probably null Het
Pde6b A G 5: 108,551,262 (GRCm39) N182S possibly damaging Het
Pom121 T C 5: 135,412,526 (GRCm39) K516E unknown Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ptpn18 T C 1: 34,498,898 (GRCm39) probably benign Het
Rapgef5 C T 12: 117,717,154 (GRCm39) probably benign Het
Ryr2 A G 13: 11,606,202 (GRCm39) L4460S possibly damaging Het
Sema6b T C 17: 56,436,969 (GRCm39) probably null Het
Serpinb6d T A 13: 33,850,375 (GRCm39) C67* probably null Het
Sorbs2 T G 8: 46,248,381 (GRCm39) V510G probably null Het
Spic T A 10: 88,511,864 (GRCm39) I131F possibly damaging Het
Spire2 T C 8: 124,086,137 (GRCm39) S290P probably damaging Het
Tas2r117 C T 6: 132,780,447 (GRCm39) S195F probably benign Het
Tas2r117 T C 6: 132,780,450 (GRCm39) V196A probably damaging Het
Tff1 C T 17: 31,381,703 (GRCm39) G58D probably damaging Het
Tmprss11g T C 5: 86,638,640 (GRCm39) T283A probably benign Het
Toporsl T A 4: 52,610,794 (GRCm39) L229H probably damaging Het
Vmn2r80 G A 10: 79,007,488 (GRCm39) G488D probably damaging Het
Vps54 T A 11: 21,261,082 (GRCm39) V583D probably damaging Het
Vwa1 T C 4: 155,855,255 (GRCm39) E286G possibly damaging Het
Vwde A T 6: 13,219,977 (GRCm39) I58N probably damaging Het
Zbtb11 T C 16: 55,800,973 (GRCm39) V109A probably damaging Het
Zfp319 C T 8: 96,055,540 (GRCm39) R221Q probably benign Het
Other mutations in Cdc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Cdc6 APN 11 98,799,597 (GRCm39) missense probably benign 0.07
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
R9232:Cdc6 UTSW 11 98,801,201 (GRCm39) missense probably benign 0.16
Posted On 2013-12-09