Incidental Mutation 'R8436:Cdt1'
ID 654002
Institutional Source Beutler Lab
Gene Symbol Cdt1
Ensembl Gene ENSMUSG00000006585
Gene Name chromatin licensing and DNA replication factor 1
Synonyms 2610318F11Rik, Ris2
MMRRC Submission 067777-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R8436 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 123294754-123299869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123296070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 128 (S128L)
Ref Sequence ENSEMBL: ENSMUSP00000006760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006760] [ENSMUST00000127664]
AlphaFold Q8R4E9
PDB Structure Structure of the Cdt1 C-terminal domain [SOLUTION NMR]
Structure of C-terminal region of Cdt1 [SOLUTION NMR]
Crystal structure of Cdt1/geminin complex [X-RAY DIFFRACTION]
Crystal structure of cdt1 C terminal domain [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000006760
AA Change: S128L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000006760
Gene: ENSMUSG00000006585
AA Change: S128L

DomainStartEndE-ValueType
low complexity region 41 52 N/A INTRINSIC
low complexity region 59 70 N/A INTRINSIC
low complexity region 72 108 N/A INTRINSIC
CDT1 199 362 3.68e-91 SMART
low complexity region 401 427 N/A INTRINSIC
Pfam:CDT1_C 431 525 1.4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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 involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a small in-frame deletion in exon 2 are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,936 (GRCm39) I1278V possibly damaging Het
Baz1b A G 5: 135,266,821 (GRCm39) H1210R probably damaging Het
Cfap54 A T 10: 92,800,398 (GRCm39) N1603K unknown Het
Cfap99 A G 5: 34,469,026 (GRCm39) N300S possibly damaging Het
Chrdl2 G A 7: 99,676,940 (GRCm39) probably null Het
Cpb2 C A 14: 75,510,015 (GRCm39) F258L probably damaging Het
Csmd3 A T 15: 47,868,218 (GRCm39) D767E probably damaging Het
Dennd3 C T 15: 73,434,198 (GRCm39) T956I probably damaging Het
Emcn A G 3: 137,129,228 (GRCm39) T245A possibly damaging Het
Gm4353 A G 7: 115,682,864 (GRCm39) V239A probably damaging Het
Gm4884 G A 7: 40,692,810 (GRCm39) A260T probably damaging Het
Hectd4 A G 5: 121,446,421 (GRCm39) D205G possibly damaging Het
Hectd4 A G 5: 121,481,210 (GRCm39) S3005G probably benign Het
Ifngr1 T C 10: 19,479,553 (GRCm39) L148P probably damaging Het
Irf2 C T 8: 47,271,929 (GRCm39) T172M probably damaging Het
Irs1 T C 1: 82,267,970 (GRCm39) H82R possibly damaging Het
Kcnc4 G T 3: 107,366,084 (GRCm39) N41K probably damaging Het
Lig3 C T 11: 82,682,870 (GRCm39) A490V possibly damaging Het
Megf6 G A 4: 154,349,649 (GRCm39) E946K probably damaging Het
Mpi A T 9: 57,452,200 (GRCm39) Y359N probably damaging Het
Nf1 A G 11: 79,349,709 (GRCm39) S1365G probably damaging Het
P3h3 C A 6: 124,828,041 (GRCm39) probably null Het
Pdk2 A T 11: 94,930,259 (GRCm39) V59D probably damaging Het
Ppip5k2 T C 1: 97,683,613 (GRCm39) K168R probably benign Het
Prg4 G T 1: 150,331,318 (GRCm39) P452T unknown Het
Prl2b1 T C 13: 27,567,442 (GRCm39) N234S possibly damaging Het
Rnd1 T A 15: 98,574,455 (GRCm39) T41S possibly damaging Het
Sall4 G A 2: 168,597,830 (GRCm39) P337S probably damaging Het
Slc1a2 G A 2: 102,586,298 (GRCm39) A301T possibly damaging Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Svep1 G A 4: 58,044,053 (GRCm39) T3531I possibly damaging Het
Sycp2 T C 2: 178,004,761 (GRCm39) D894G probably benign Het
Syne1 T C 10: 5,178,659 (GRCm39) N4605S probably benign Het
Syt4 A C 18: 31,573,472 (GRCm39) C348G possibly damaging Het
Tceanc2 G A 4: 107,034,778 (GRCm39) T28M probably damaging Het
Tmco1 A G 1: 167,136,254 (GRCm39) D5G Het
Tnfsf12 T C 11: 69,577,713 (GRCm39) K235E probably damaging Het
Trank1 T C 9: 111,220,450 (GRCm39) S2396P possibly damaging Het
Vipas39 T A 12: 87,304,191 (GRCm39) D125V probably damaging Het
Vmn1r86 A G 7: 12,836,771 (GRCm39) F35S probably benign Het
Vmn2r16 A G 5: 109,511,649 (GRCm39) N619D probably damaging Het
Vps13a A G 19: 16,718,157 (GRCm39) V521A probably benign Het
Wdr20rt T A 12: 65,273,035 (GRCm39) L166Q probably damaging Het
Zbtb11 T A 16: 55,821,022 (GRCm39) C706* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zscan21 A T 5: 138,116,178 (GRCm39) Y30F unknown Het
Other mutations in Cdt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB001:Cdt1 UTSW 8 123,296,091 (GRCm39) missense probably damaging 1.00
BB011:Cdt1 UTSW 8 123,296,091 (GRCm39) missense probably damaging 1.00
R0014:Cdt1 UTSW 8 123,299,305 (GRCm39) missense probably benign 0.00
R0494:Cdt1 UTSW 8 123,298,799 (GRCm39) missense possibly damaging 0.64
R0614:Cdt1 UTSW 8 123,294,876 (GRCm39) missense probably benign 0.04
R0645:Cdt1 UTSW 8 123,298,884 (GRCm39) unclassified probably benign
R1699:Cdt1 UTSW 8 123,296,722 (GRCm39) missense probably damaging 0.99
R1889:Cdt1 UTSW 8 123,298,791 (GRCm39) missense possibly damaging 0.85
R3114:Cdt1 UTSW 8 123,297,221 (GRCm39) nonsense probably null
R4243:Cdt1 UTSW 8 123,298,157 (GRCm39) missense probably benign 0.04
R4532:Cdt1 UTSW 8 123,298,495 (GRCm39) missense probably benign 0.00
R5496:Cdt1 UTSW 8 123,297,239 (GRCm39) missense probably damaging 0.99
R5498:Cdt1 UTSW 8 123,297,239 (GRCm39) missense probably damaging 0.99
R5501:Cdt1 UTSW 8 123,297,239 (GRCm39) missense probably damaging 0.99
R5523:Cdt1 UTSW 8 123,294,832 (GRCm39) missense possibly damaging 0.95
R5647:Cdt1 UTSW 8 123,296,947 (GRCm39) missense possibly damaging 0.79
R6160:Cdt1 UTSW 8 123,298,107 (GRCm39) missense probably benign 0.36
R6892:Cdt1 UTSW 8 123,296,951 (GRCm39) missense probably damaging 1.00
R7001:Cdt1 UTSW 8 123,299,249 (GRCm39) missense probably damaging 1.00
R7089:Cdt1 UTSW 8 123,298,719 (GRCm39) missense probably damaging 1.00
R7214:Cdt1 UTSW 8 123,295,012 (GRCm39) critical splice donor site probably null
R7583:Cdt1 UTSW 8 123,296,995 (GRCm39) missense probably damaging 0.99
R7924:Cdt1 UTSW 8 123,296,091 (GRCm39) missense probably damaging 1.00
R7976:Cdt1 UTSW 8 123,298,585 (GRCm39) missense probably damaging 1.00
R8116:Cdt1 UTSW 8 123,298,728 (GRCm39) missense probably benign 0.05
R8236:Cdt1 UTSW 8 123,298,767 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTTAATCGCCAGGACTCC -3'
(R):5'- CTTAACCTTGTGGCCCCACTAG -3'

Sequencing Primer
(F):5'- AGTTCTCTGCCTGAGCCCAG -3'
(R):5'- ACTAGGACTCACCATGGTTGC -3'
Posted On 2020-10-20