Incidental Mutation 'R0064:Cdk1'
ID 16865
Institutional Source Beutler Lab
Gene Symbol Cdk1
Ensembl Gene ENSMUSG00000019942
Gene Name cyclin dependent kinase 1
Synonyms Cdc2, Cdc2a, p34
MMRRC Submission 038356-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0064 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 69170976-69188742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69180907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 101 (D101G)
Ref Sequence ENSEMBL: ENSMUSP00000119085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020099] [ENSMUST00000119827] [ENSMUST00000152448]
AlphaFold P11440
Predicted Effect probably benign
Transcript: ENSMUST00000020099
AA Change: D101G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000020099
Gene: ENSMUSG00000019942
AA Change: D101G

DomainStartEndE-ValueType
S_TKc 4 287 7.87e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119827
AA Change: D101G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113184
Gene: ENSMUSG00000019942
AA Change: D101G

DomainStartEndE-ValueType
S_TKc 4 287 7.87e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149474
Predicted Effect probably benign
Transcript: ENSMUST00000152448
AA Change: D101G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119085
Gene: ENSMUSG00000019942
AA Change: D101G

DomainStartEndE-ValueType
Pfam:Pkinase 4 200 8.7e-65 PFAM
Pfam:Pkinase_Tyr 5 200 6.9e-35 PFAM
Meta Mutation Damage Score 0.1679 question?
Coding Region Coverage
  • 1x: 87.7%
  • 3x: 83.1%
  • 10x: 65.7%
  • 20x: 35.9%
Validation Efficiency 92% (56/61)
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 a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null allele die prior to E1.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,888,288 (GRCm39) I377M probably benign Het
Ccdc25 T A 14: 66,091,561 (GRCm39) I60K possibly damaging Het
Cep126 A T 9: 8,130,183 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crlf3 A G 11: 79,948,728 (GRCm39) I239T possibly damaging Het
Cul1 A G 6: 47,479,349 (GRCm39) probably benign Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fgd3 T G 13: 49,449,901 (GRCm39) D116A possibly damaging Het
Gm270 C A 13: 49,919,367 (GRCm39) noncoding transcript Het
Knl1 T A 2: 118,906,724 (GRCm39) N1604K probably benign Het
Lpl A G 8: 69,345,356 (GRCm39) H120R probably damaging Het
Myo18a G T 11: 77,738,170 (GRCm39) R1704L probably damaging Het
Nlrc3 G T 16: 3,781,951 (GRCm39) T486K possibly damaging Het
Obscn A C 11: 58,918,292 (GRCm39) V6260G probably damaging Het
Or10a2 T C 7: 106,673,487 (GRCm39) F151L probably benign Het
Pmpca C A 2: 26,285,519 (GRCm39) D498E probably benign Het
Pnpla7 G T 2: 24,887,239 (GRCm39) E28* probably null Het
Polg C A 7: 79,111,632 (GRCm39) W206C probably damaging Het
Spata31 T C 13: 65,069,912 (GRCm39) Y687H probably damaging Het
Sybu T A 15: 44,536,389 (GRCm39) T646S probably benign Het
Tns3 G A 11: 8,385,856 (GRCm39) Q1381* probably null Het
Trank1 A G 9: 111,172,263 (GRCm39) D84G probably damaging Het
Urb1 A G 16: 90,576,028 (GRCm39) F843L probably benign Het
Zfp287 A T 11: 62,605,764 (GRCm39) L370H possibly damaging Het
Other mutations in Cdk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02343:Cdk1 APN 10 69,176,331 (GRCm39) missense probably benign
IGL02875:Cdk1 APN 10 69,178,366 (GRCm39) splice site probably benign
IGL03295:Cdk1 APN 10 69,178,373 (GRCm39) missense possibly damaging 0.88
R0064:Cdk1 UTSW 10 69,180,907 (GRCm39) missense probably benign 0.34
R0413:Cdk1 UTSW 10 69,180,929 (GRCm39) missense probably benign 0.00
R1635:Cdk1 UTSW 10 69,174,377 (GRCm39) missense probably damaging 1.00
R4173:Cdk1 UTSW 10 69,180,991 (GRCm39) missense probably benign 0.19
R5154:Cdk1 UTSW 10 69,176,298 (GRCm39) unclassified probably benign
R6847:Cdk1 UTSW 10 69,174,358 (GRCm39) missense probably benign
R8222:Cdk1 UTSW 10 69,176,426 (GRCm39) missense probably benign 0.00
R8755:Cdk1 UTSW 10 69,176,435 (GRCm39) missense probably benign 0.02
R9681:Cdk1 UTSW 10 69,178,449 (GRCm39) missense possibly damaging 0.89
RF023:Cdk1 UTSW 10 69,176,328 (GRCm39) missense possibly damaging 0.69
Posted On 2013-01-20