Incidental Mutation 'IGL03295:Cdk1'
ID 416061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk1
Ensembl Gene ENSMUSG00000019942
Gene Name cyclin dependent kinase 1
Synonyms Cdc2, Cdc2a, p34
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03295
Quality Score
Status
Chromosome 10
Chromosomal Location 69170976-69188742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69178373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 162 (H162Q)
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: H162Q

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020099
Gene: ENSMUSG00000019942
AA Change: H162Q

DomainStartEndE-ValueType
S_TKc 4 287 7.87e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119827
AA Change: H162Q

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113184
Gene: ENSMUSG00000019942
AA Change: H162Q

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 possibly damaging
Transcript: ENSMUST00000152448
AA Change: H162Q

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119085
Gene: ENSMUSG00000019942
AA Change: H162Q

DomainStartEndE-ValueType
Pfam:Pkinase 4 200 8.7e-65 PFAM
Pfam:Pkinase_Tyr 5 200 6.9e-35 PFAM
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 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,390,915 (GRCm39) probably benign Het
Adamts5 T C 16: 85,674,833 (GRCm39) T444A probably damaging Het
Aldh18a1 T C 19: 40,551,386 (GRCm39) E522G probably damaging Het
Bbx T C 16: 50,044,927 (GRCm39) T437A probably damaging Het
Bsx A G 9: 40,785,743 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,977,769 (GRCm39) N729S probably benign Het
Chrac1 A G 15: 72,965,445 (GRCm39) probably benign Het
Cip2a T C 16: 48,814,704 (GRCm39) S22P probably damaging Het
Ddx60 A T 8: 62,409,155 (GRCm39) D397V possibly damaging Het
Edn2 T A 4: 120,019,178 (GRCm39) C56S probably damaging Het
Gm4952 T C 19: 12,595,691 (GRCm39) V27A probably benign Het
Herc1 T A 9: 66,303,985 (GRCm39) S763T possibly damaging Het
Hspd1 G A 1: 55,119,334 (GRCm39) T381I probably benign Het
Krt1c T A 15: 101,724,864 (GRCm39) I249F probably damaging Het
Lman2l T C 1: 36,477,892 (GRCm39) D148G probably damaging Het
Lrp1b C T 2: 40,568,999 (GRCm39) probably null Het
Mier3 C A 13: 111,840,215 (GRCm39) T51K probably benign Het
Ppp1r36 C T 12: 76,485,192 (GRCm39) P305L probably damaging Het
Pramel27 G A 4: 143,579,759 (GRCm39) C448Y probably damaging Het
Prdm1 T C 10: 44,315,866 (GRCm39) I790V probably damaging Het
Sephs2 T C 7: 126,871,941 (GRCm39) E384G possibly damaging Het
Sipa1l1 T A 12: 82,479,714 (GRCm39) W1466R probably damaging Het
Snai2 T C 16: 14,524,638 (GRCm39) L48P possibly damaging Het
Stt3a A G 9: 36,674,627 (GRCm39) probably null Het
Synj1 T A 16: 90,735,318 (GRCm39) N1545I probably benign Het
Vav2 A T 2: 27,165,041 (GRCm39) S607T possibly damaging Het
Wdr27 T C 17: 15,154,837 (GRCm39) K27E possibly damaging Het
Xcl1 A T 1: 164,763,004 (GRCm39) V19E unknown Het
Xlr3c A T X: 72,301,240 (GRCm39) probably null Het
Zbtb44 T A 9: 30,964,753 (GRCm39) D54E probably benign Het
Zscan21 A G 5: 138,123,540 (GRCm39) D73G 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
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
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 2016-08-02