Incidental Mutation 'R7976:Cdt1'
ID 650917
Institutional Source Beutler Lab
Gene Symbol Cdt1
Ensembl Gene ENSMUSG00000006585
Gene Name chromatin licensing and DNA replication factor 1
Synonyms 2610318F11Rik, Ris2
MMRRC Submission 046019-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7976 (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 123298585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 437 (R437W)
Ref Sequence ENSEMBL: ENSMUSP00000006760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006760] [ENSMUST00000006764] [ENSMUST00000127664] [ENSMUST00000211823] [ENSMUST00000212093] [ENSMUST00000213029] [ENSMUST00000213062]
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 damaging
Transcript: ENSMUST00000006760
AA Change: R437W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006760
Gene: ENSMUSG00000006585
AA Change: R437W

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: ENSMUST00000006764
SMART Domains Protein: ENSMUSP00000006764
Gene: ENSMUSG00000006589

DomainStartEndE-ValueType
Pfam:Pribosyltran 28 178 2.3e-25 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
Predicted Effect probably benign
Transcript: ENSMUST00000211823
Predicted Effect probably benign
Transcript: ENSMUST00000212093
Predicted Effect probably benign
Transcript: ENSMUST00000213029
Predicted Effect probably benign
Transcript: ENSMUST00000213062
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A C 12: 112,602,831 (GRCm39) I341L probably benign Het
Aldh1b1 T A 4: 45,803,092 (GRCm39) M210K possibly damaging Het
Ankrd17 G A 5: 90,431,451 (GRCm39) Q778* probably null Het
Bmper T C 9: 23,318,106 (GRCm39) V575A probably damaging Het
Brinp2 A G 1: 158,073,913 (GRCm39) V736A probably benign Het
Ccdc81 A T 7: 89,515,723 (GRCm39) L652* probably null Het
Ckb A C 12: 111,637,466 (GRCm39) L165R possibly damaging Het
Col25a1 G T 3: 130,290,075 (GRCm39) G255V probably damaging Het
Ddx17 A G 15: 79,420,156 (GRCm39) probably null Het
Dennd4a G T 9: 64,759,794 (GRCm39) G300W possibly damaging Het
Dlg4 T A 11: 69,930,008 (GRCm39) I316N probably damaging Het
Dlgap2 C T 8: 14,793,410 (GRCm39) P467L probably benign Het
Dnah9 T C 11: 65,732,227 (GRCm39) I4226M possibly damaging Het
Drc1 G A 5: 30,521,829 (GRCm39) A734T probably benign Het
Entpd1 A G 19: 40,600,865 (GRCm39) M1V probably null Het
Exph5 T G 9: 53,287,935 (GRCm39) I1672S possibly damaging Het
Fam149b T A 14: 20,427,852 (GRCm39) D379E probably damaging Het
Fgfr2 T C 7: 129,787,074 (GRCm39) T461A probably damaging Het
Frem1 A G 4: 82,919,946 (GRCm39) V469A probably damaging Het
Frem3 A T 8: 81,338,231 (GRCm39) K175* probably null Het
Fsd2 C T 7: 81,209,629 (GRCm39) G71E probably benign Het
Gcat T C 15: 78,919,188 (GRCm39) I116T probably damaging Het
Gigyf2 G A 1: 87,331,458 (GRCm39) S202N unknown Het
Glra3 T G 8: 56,565,911 (GRCm39) probably null Het
Golga4 C T 9: 118,365,836 (GRCm39) T296I possibly damaging Het
Herc1 C T 9: 66,341,552 (GRCm39) T1816I possibly damaging Het
Igfbpl1 C A 4: 45,826,786 (GRCm39) R3L unknown Het
Ighv15-2 A T 12: 114,528,470 (GRCm39) S28T probably benign Het
Kat2b T A 17: 53,955,835 (GRCm39) M427K probably benign Het
Kdm4c A G 4: 74,295,906 (GRCm39) T882A probably damaging Het
Kif1a G T 1: 92,967,496 (GRCm39) F1138L probably damaging Het
Klhl20 A T 1: 160,934,307 (GRCm39) S237R probably benign Het
Lamc1 A T 1: 153,123,014 (GRCm39) N725K probably damaging Het
Lmtk3 A G 7: 45,444,890 (GRCm39) D1191G unknown Het
Ltbp1 C A 17: 75,670,358 (GRCm39) N1466K possibly damaging Het
Ly75 T C 2: 60,195,432 (GRCm39) E242G probably damaging Het
Lyrm1 T C 7: 119,515,449 (GRCm39) V113A probably benign Het
Mfsd13a G T 19: 46,360,446 (GRCm39) A333S probably benign Het
Mllt10 T C 2: 18,167,214 (GRCm39) S380P possibly damaging Het
Mrc2 A G 11: 105,238,829 (GRCm39) K1295E possibly damaging Het
Muc5ac A T 7: 141,363,528 (GRCm39) I2280F unknown Het
Neurod2 A C 11: 98,218,023 (GRCm39) F380L probably damaging Het
Ntrk3 G A 7: 78,005,954 (GRCm39) A469V probably damaging Het
Nup205 T C 6: 35,175,888 (GRCm39) F584L probably damaging Het
Oas1d A T 5: 121,057,210 (GRCm39) Y272F probably damaging Het
Olfm3 T C 3: 114,874,794 (GRCm39) V30A probably benign Het
Or4c110 T A 2: 88,831,973 (GRCm39) I220F probably damaging Het
Or5b117 A G 19: 13,431,563 (GRCm39) I106T probably benign Het
Or8k22 A G 2: 86,163,064 (GRCm39) V212A probably benign Het
Pcdhga12 A G 18: 37,901,427 (GRCm39) Y753C probably damaging Het
Phox2b A G 5: 67,253,514 (GRCm39) V294A unknown Het
Prdm2 A T 4: 142,859,812 (GRCm39) C1159* probably null Het
Ptpn12 G T 5: 21,207,631 (GRCm39) S275* probably null Het
Rigi T C 4: 40,209,894 (GRCm39) M725V probably damaging Het
Rnf223 A T 4: 156,216,776 (GRCm39) E50D probably damaging Het
Rrp12 A T 19: 41,879,548 (GRCm39) Y169N probably benign Het
Sgip1 T C 4: 102,757,736 (GRCm39) probably null Het
Shank2 T C 7: 143,964,798 (GRCm39) I802T probably damaging Het
Skint2 A T 4: 112,481,329 (GRCm39) N64I probably damaging Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Tmem106c G C 15: 97,865,985 (GRCm39) G192R probably damaging Het
Tmem72 T C 6: 116,673,800 (GRCm39) H106R probably damaging Het
Upf2 G C 2: 6,030,926 (GRCm39) V789L unknown Het
Vash1 A G 12: 86,726,758 (GRCm39) probably benign Het
Vmn1r201 T A 13: 22,658,875 (GRCm39) Y30N probably benign Het
Xpr1 A G 1: 155,166,035 (GRCm39) F571L possibly damaging Het
Yif1a T C 19: 5,139,815 (GRCm39) S87P probably damaging Het
Zer1 T C 2: 29,997,520 (GRCm39) Y462C probably damaging Het
Zfp597 G A 16: 3,684,375 (GRCm39) P127L possibly damaging Het
Zxdc T C 6: 90,375,749 (GRCm39) S742P probably benign 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
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
R8436:Cdt1 UTSW 8 123,296,070 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TTGTGACCTCTGACCTGTGC -3'
(R):5'- TCAGACACGAAGACATTGCG -3'

Sequencing Primer
(F):5'- CCTACCCTGCAGATGGAGAAG -3'
(R):5'- AGCTCTGGCAGACGCTCTAAC -3'
Posted On 2020-09-15