Incidental Mutation 'IGL01615:Cdk20'
ID 92380
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 # IGL01615
Quality Score
Status
Chromosome 13
Chromosomal Location 64580133-64587536 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 64584124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021939] [ENSMUST00000222562] [ENSMUST00000223121] [ENSMUST00000223419]
AlphaFold Q9JHU3
Predicted Effect probably benign
Transcript: ENSMUST00000021939
SMART Domains Protein: ENSMUSP00000021939
Gene: ENSMUSG00000021483

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 noncoding transcript
Transcript: ENSMUST00000221465
Predicted Effect probably benign
Transcript: ENSMUST00000222470
Predicted Effect probably benign
Transcript: ENSMUST00000222562
Predicted Effect probably benign
Transcript: ENSMUST00000222576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223011
Predicted Effect probably benign
Transcript: ENSMUST00000223121
Predicted Effect probably benign
Transcript: ENSMUST00000223419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223279
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,171,692 (GRCm39) T906A probably damaging Het
Akap13 A G 7: 75,347,141 (GRCm39) S1731G probably damaging Het
Apbb2 A G 5: 66,465,044 (GRCm39) V650A probably benign Het
Appl1 A G 14: 26,681,427 (GRCm39) probably benign Het
Avpr1b T G 1: 131,527,885 (GRCm39) V136G probably damaging Het
C6 T C 15: 4,811,378 (GRCm39) F409L probably benign Het
Ccdc121rt3 A G 5: 112,503,696 (GRCm39) S3P possibly damaging Het
Cenpf T C 1: 189,385,381 (GRCm39) K2300E possibly damaging Het
Cfap57 C T 4: 118,457,993 (GRCm39) R399Q probably damaging Het
Cimap3 G T 3: 105,904,523 (GRCm39) probably null Het
Cnnm1 A T 19: 43,460,375 (GRCm39) S706C probably benign Het
Cr1l T C 1: 194,812,189 (GRCm39) I45V possibly damaging Het
D130043K22Rik A T 13: 25,083,779 (GRCm39) R1081S probably damaging Het
Ddx60 A T 8: 62,416,774 (GRCm39) H573L probably null Het
Eif5b T C 1: 38,084,787 (GRCm39) L878S probably damaging Het
Ets1 T C 9: 32,644,235 (GRCm39) probably benign Het
Evi5 A G 5: 107,912,573 (GRCm39) L696P probably damaging Het
Fbh1 C A 2: 11,762,334 (GRCm39) E12* probably null Het
Gabpb1 C A 2: 126,495,520 (GRCm39) M77I possibly damaging Het
Glul T A 1: 153,782,222 (GRCm39) N152K probably benign Het
Gm45234 T C 6: 124,723,394 (GRCm39) Y613C probably damaging Het
Gm5611 A G 9: 16,941,647 (GRCm39) noncoding transcript Het
Gpr156 T A 16: 37,808,953 (GRCm39) I225K probably damaging Het
Herc4 T C 10: 63,126,461 (GRCm39) probably benign Het
Iqsec3 C T 6: 121,387,580 (GRCm39) V720M probably damaging Het
Itgam A T 7: 127,715,939 (GRCm39) H1104L possibly damaging Het
Itgb3 T A 11: 104,534,791 (GRCm39) D549E probably damaging Het
Kctd7 A T 5: 130,176,976 (GRCm39) M76L probably damaging Het
Kdm3b T G 18: 34,962,284 (GRCm39) N1523K probably damaging Het
Map3k12 T A 15: 102,412,186 (GRCm39) E318D probably damaging Het
Mc1r T C 8: 124,134,789 (GRCm39) Y181H probably damaging Het
Mex3c G A 18: 73,706,703 (GRCm39) A197T unknown Het
Mvk A G 5: 114,584,353 (GRCm39) D71G probably benign Het
Ndufb3 T A 1: 58,634,912 (GRCm39) L88* probably null Het
Or56a4 A G 7: 104,806,667 (GRCm39) V74A probably benign Het
Or5p55 A G 7: 107,567,144 (GRCm39) D180G probably damaging Het
Pramel17 T A 4: 101,694,201 (GRCm39) R227S possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Slc5a3 C T 16: 91,876,000 (GRCm39) Q686* probably null Het
Vmn2r75 T C 7: 85,797,681 (GRCm39) I711V probably benign Het
Vps13c T A 9: 67,863,063 (GRCm39) H3026Q probably benign Het
Zfp354c A G 11: 50,708,732 (GRCm39) S22P possibly damaging Het
Other mutations in Cdk20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02324:Cdk20 APN 13 64,585,734 (GRCm39) missense probably benign 0.03
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 2013-12-09