Incidental Mutation 'IGL02343:Cdk1'
ID 289191
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 # IGL02343
Quality Score
Status
Chromosome 10
Chromosomal Location 69170976-69188742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69176331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 259 (N259D)
Ref Sequence ENSEMBL: ENSMUSP00000113184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020099] [ENSMUST00000119827] [ENSMUST00000152448]
AlphaFold P11440
Predicted Effect probably benign
Transcript: ENSMUST00000020099
AA Change: N259D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020099
Gene: ENSMUSG00000019942
AA Change: N259D

DomainStartEndE-ValueType
S_TKc 4 287 7.87e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119827
AA Change: N259D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113184
Gene: ENSMUSG00000019942
AA Change: N259D

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
SMART Domains Protein: ENSMUSP00000119085
Gene: ENSMUSG00000019942

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 T A 2: 22,977,507 (GRCm39) N168K possibly damaging Het
Aig1 T C 10: 13,744,418 (GRCm39) M29V probably damaging Het
Albfm1 C A 5: 90,727,473 (GRCm39) H364N probably damaging Het
Apba2 A G 7: 64,344,894 (GRCm39) E28G probably damaging Het
Bglap3 T C 3: 88,276,423 (GRCm39) N45S possibly damaging Het
Cables2 A G 2: 179,902,072 (GRCm39) probably null Het
Cd109 A G 9: 78,596,237 (GRCm39) probably benign Het
Ces1h A G 8: 94,078,654 (GRCm39) *563R probably null Het
Cfap46 C T 7: 139,262,425 (GRCm39) A115T probably damaging Het
Cry2 A T 2: 92,257,266 (GRCm39) V101E possibly damaging Het
Cyp4a31 A G 4: 115,421,026 (GRCm39) Y38C probably damaging Het
Dip2a T C 10: 76,155,312 (GRCm39) Y130C probably benign Het
Eps8l1 A G 7: 4,475,123 (GRCm39) T366A probably benign Het
Esr2 C T 12: 76,192,119 (GRCm39) R303H probably benign Het
Fbxo41 T G 6: 85,455,153 (GRCm39) L617F possibly damaging Het
Fbxw15 A T 9: 109,381,723 (GRCm39) probably benign Het
Lrriq1 T A 10: 103,070,024 (GRCm39) probably benign Het
Me1 A T 9: 86,536,694 (GRCm39) probably null Het
Moxd1 G A 10: 24,155,762 (GRCm39) V289I probably damaging Het
Muc19 T G 15: 91,778,428 (GRCm39) noncoding transcript Het
Myo15b A G 11: 115,764,226 (GRCm39) probably benign Het
Nav1 A T 1: 135,382,490 (GRCm39) L1264* probably null Het
Nhlrc4 T C 17: 26,162,335 (GRCm39) *137W probably null Het
Nrxn3 A G 12: 88,762,123 (GRCm39) T57A probably damaging Het
Or10g3 T A 14: 52,609,934 (GRCm39) D192V probably damaging Het
Orc2 A T 1: 58,508,825 (GRCm39) probably null Het
Rpap2 G A 5: 107,766,047 (GRCm39) probably null Het
S100a9 T C 3: 90,602,531 (GRCm39) H21R probably damaging Het
Spz1 T A 13: 92,712,054 (GRCm39) M141L probably benign Het
Stk40 A G 4: 126,030,695 (GRCm39) Y305C probably damaging Het
Stra6l A G 4: 45,869,588 (GRCm39) Q218R probably damaging Het
T C A 17: 8,658,732 (GRCm39) probably benign Het
Tep1 T C 14: 51,066,704 (GRCm39) D2298G probably damaging Het
Trim40 A T 17: 37,200,030 (GRCm39) L16Q probably benign Het
Tubb4a T C 17: 57,388,538 (GRCm39) I163V probably benign Het
Vwc2 T A 11: 11,066,532 (GRCm39) C207S probably damaging Het
Zfp407 A G 18: 84,227,849 (GRCm39) I1920T possibly damaging Het
Zfp429 T C 13: 67,538,844 (GRCm39) E200G probably damaging Het
Zfp451 C T 1: 33,815,574 (GRCm39) C792Y probably damaging Het
Other mutations in Cdk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-04-16