Incidental Mutation 'IGL02324:Cdk20'
ID 288403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk20
Ensembl Gene ENSMUSG00000021483
Gene Name cyclin dependent kinase 20
Synonyms Ccrk, 4932702G04Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # IGL02324
Quality Score
Status
Chromosome 13
Chromosomal Location 64580133-64587536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64585734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 244 (E244G)
Ref Sequence ENSEMBL: ENSMUSP00000021939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021939] [ENSMUST00000222562] [ENSMUST00000223121] [ENSMUST00000223419]
AlphaFold Q9JHU3
Predicted Effect probably benign
Transcript: ENSMUST00000021939
AA Change: E244G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000021939
Gene: ENSMUSG00000021483
AA Change: E244G

DomainStartEndE-ValueType
S_TKc 4 288 1.87e-87 SMART
low complexity region 306 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220992
Predicted Effect probably benign
Transcript: ENSMUST00000222470
Predicted Effect probably benign
Transcript: ENSMUST00000222562
AA Change: E218G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000222576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223011
Predicted Effect probably benign
Transcript: ENSMUST00000223121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223279
Predicted Effect probably benign
Transcript: ENSMUST00000223419
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 contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a null allele display exencephaly, open neural tubes, cleft palate, absence of the floor plate, achondroplasia of the radius and ulna, and abnormal cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T A 3: 151,203,511 (GRCm39) C124S probably damaging Het
Aldh1a7 T C 19: 20,704,368 (GRCm39) N42S probably damaging Het
Arhgef1 T C 7: 24,623,240 (GRCm39) L667P probably damaging Het
C1qb C A 4: 136,607,811 (GRCm39) R184L possibly damaging Het
Cacna1s A G 1: 136,002,914 (GRCm39) probably benign Het
Copg2 C A 6: 30,840,469 (GRCm39) probably null Het
Cyp2d40 A T 15: 82,645,149 (GRCm39) probably benign Het
Cyp2j6 A G 4: 96,414,170 (GRCm39) I365T probably damaging Het
Dhx29 A G 13: 113,064,342 (GRCm39) K6E probably damaging Het
Dpp10 T A 1: 123,295,531 (GRCm39) T539S probably benign Het
Ehbp1 A T 11: 22,046,048 (GRCm39) I542K probably damaging Het
Fat1 A G 8: 45,493,593 (GRCm39) Y3913C probably damaging Het
Flt4 C T 11: 49,536,822 (GRCm39) T1264I probably benign Het
Fmnl1 A G 11: 103,070,364 (GRCm39) D51G probably damaging Het
Gm17093 A G 14: 44,755,807 (GRCm39) T25A unknown Het
Gpatch2 A G 1: 186,957,936 (GRCm39) E97G probably damaging Het
Hcn1 T C 13: 118,039,422 (GRCm39) L446P unknown Het
Hpse2 A T 19: 42,920,038 (GRCm39) L354I probably damaging Het
Hspa4 A G 11: 53,190,885 (GRCm39) probably null Het
Krtap16-1 C T 11: 99,877,129 (GRCm39) V92M probably damaging Het
Med23 A T 10: 24,773,239 (GRCm39) Q281L probably damaging Het
Megf8 T C 7: 25,039,873 (GRCm39) S963P probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mycbp2 A G 14: 103,479,643 (GRCm39) S1217P probably damaging Het
Myocd C A 11: 65,069,484 (GRCm39) L785F probably benign Het
Nell2 T C 15: 95,126,982 (GRCm39) T798A probably damaging Het
Nfat5 T C 8: 108,092,808 (GRCm39) probably benign Het
Olfm5 T C 7: 103,803,302 (GRCm39) probably null Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
P2ry1 A T 3: 60,911,199 (GRCm39) N113Y possibly damaging Het
Pan3 A G 5: 147,466,933 (GRCm39) probably null Het
Pappa A G 4: 65,115,045 (GRCm39) R714G probably damaging Het
Plcd1 A G 9: 118,901,710 (GRCm39) F579L probably damaging Het
Ptprb T C 10: 116,155,238 (GRCm39) V664A probably benign Het
Slc27a5 T A 7: 12,731,487 (GRCm39) Q168L probably benign Het
Spag8 T C 4: 43,651,781 (GRCm39) E395G probably damaging Het
Stfa2l1 T C 16: 35,982,138 (GRCm39) Y70H probably damaging Het
Taf2 T C 15: 54,891,772 (GRCm39) N1017S probably benign Het
Tnfrsf25 C A 4: 152,203,779 (GRCm39) Q296K probably damaging Het
Trpm3 T A 19: 22,676,143 (GRCm39) I103N probably benign Het
Other mutations in Cdk20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Cdk20 APN 13 64,584,124 (GRCm39) unclassified probably benign
R1396:Cdk20 UTSW 13 64,585,217 (GRCm39) missense probably damaging 1.00
R4014:Cdk20 UTSW 13 64,585,319 (GRCm39) missense probably benign 0.01
R6328:Cdk20 UTSW 13 64,584,413 (GRCm39) missense probably damaging 1.00
R6579:Cdk20 UTSW 13 64,584,348 (GRCm39) missense probably benign 0.00
R8081:Cdk20 UTSW 13 64,586,766 (GRCm39) missense probably benign 0.01
R8134:Cdk20 UTSW 13 64,585,734 (GRCm39) missense probably benign 0.03
R9134:Cdk20 UTSW 13 64,580,906 (GRCm39) critical splice donor site probably null
X0027:Cdk20 UTSW 13 64,584,038 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16