Incidental Mutation 'R4173:Cdk1'
ID 318213
Institutional Source Beutler Lab
Gene Symbol Cdk1
Ensembl Gene ENSMUSG00000019942
Gene Name cyclin dependent kinase 1
Synonyms Cdc2, Cdc2a, p34
MMRRC Submission 041012-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4173 (G1)
Quality Score 165
Status Not validated
Chromosome 10
Chromosomal Location 69170976-69188742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69180991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 73 (D73G)
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: D73G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000020099
Gene: ENSMUSG00000019942
AA Change: D73G

DomainStartEndE-ValueType
S_TKc 4 287 7.87e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119827
AA Change: D73G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113184
Gene: ENSMUSG00000019942
AA Change: D73G

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: D73G

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119085
Gene: ENSMUSG00000019942
AA Change: D73G

DomainStartEndE-ValueType
Pfam:Pkinase 4 200 8.7e-65 PFAM
Pfam:Pkinase_Tyr 5 200 6.9e-35 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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 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
Akip1 C T 7: 109,306,716 (GRCm39) Q138* probably null Het
Cspg4 A G 9: 56,795,214 (GRCm39) E983G probably damaging Het
Gnmt A G 17: 47,037,047 (GRCm39) V217A probably damaging Het
Myo5c A G 9: 75,153,540 (GRCm39) E142G probably damaging Het
Nr1h5 C T 3: 102,859,546 (GRCm39) R171H probably damaging Het
Opcml C T 9: 28,814,654 (GRCm39) T302I probably benign Het
Or4c58 T G 2: 89,675,122 (GRCm39) D65A probably damaging Het
Pcdha11 T C 18: 37,145,676 (GRCm39) V589A probably damaging Het
Pigl T A 11: 62,349,337 (GRCm39) F18I probably benign Het
Pip4k2b T C 11: 97,613,201 (GRCm39) K265R probably benign Het
Rora C A 9: 68,561,192 (GRCm39) T35K probably benign Het
Serpinb9e A G 13: 33,439,141 (GRCm39) N189S probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc25a45 C A 19: 5,930,611 (GRCm39) Y99* probably null Het
Smgc T C 15: 91,744,759 (GRCm39) S655P possibly damaging Het
Thbs2 A C 17: 14,901,893 (GRCm39) probably null Het
Timd2 T C 11: 46,561,787 (GRCm39) T286A probably benign Het
Trav6d-3 A G 14: 52,962,806 (GRCm39) I14M probably benign Het
Trim28 A G 7: 12,763,805 (GRCm39) D622G probably benign Het
Txnl4b G A 8: 110,295,706 (GRCm39) V37I probably benign Het
Ubr1 C T 2: 120,777,103 (GRCm39) probably null Het
Vps13c A G 9: 67,843,595 (GRCm39) N1959D probably benign Het
Xkr4 A G 1: 3,286,711 (GRCm39) F493S probably damaging Het
Xrn2 T C 2: 146,889,612 (GRCm39) V665A probably 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
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
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
Predicted Primers PCR Primer
(F):5'- CTTACAGGTTTTCTAAGATGCAGC -3'
(R):5'- AATCTTCTCGAGCAGCCAGC -3'

Sequencing Primer
(F):5'- GGTTTTCTAAGATGCAGCCACAAAAC -3'
(R):5'- CAGCCAGCTTTAGGAGTGCAG -3'
Posted On 2015-06-10