Incidental Mutation 'IGL01476:Cdk8'
ID88481
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk8
Ensembl Gene ENSMUSG00000029635
Gene Namecyclin-dependent kinase 8
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01476
Quality Score
Status
Chromosome5
Chromosomal Location146231230-146302874 bp(+) (GRCm38)
Type of Mutationunclassified (2419 bp from exon)
DNA Base Change (assembly) A to G at 146295163 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031640] [ENSMUST00000161181] [ENSMUST00000161652] [ENSMUST00000162494]
Predicted Effect probably benign
Transcript: ENSMUST00000031640
AA Change: D264G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031640
Gene: ENSMUSG00000029635
AA Change: D264G

DomainStartEndE-ValueType
S_TKc 21 335 1.89e-83 SMART
low complexity region 372 391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160924
Predicted Effect probably benign
Transcript: ENSMUST00000161181
AA Change: D199G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125668
Gene: ENSMUSG00000029635
AA Change: D199G

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 179 6e-16 PFAM
Pfam:Pkinase 1 270 1.6e-44 PFAM
low complexity region 307 326 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161652
SMART Domains Protein: ENSMUSP00000124323
Gene: ENSMUSG00000029635

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 22 215 2e-22 PFAM
Pfam:Pkinase 23 226 5.2e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162494
SMART Domains Protein: ENSMUSP00000125516
Gene: ENSMUSG00000029635

DomainStartEndE-ValueType
Pfam:Pkinase 22 153 5.9e-25 PFAM
Pfam:Pkinase_Tyr 22 156 1.5e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198861
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit, cyclin C, are components of the Mediator transcriptional regulatory complex, involved in both transcriptional activation and repression by phosphorylation of the carboxy-terminal domain of the largest subunit of RNA polymerase II. This kinase regulates transcription by targeting the cyclin-dependent kinase 7 subunits of the general transcription initiation factor IIH, thus providing a link between the Mediator complex and the basal transcription machinery. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a gene-trapped allele die prior to implantation exhibiting fragmented blastomeres and failure to undergo compaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Abcc10 A G 17: 46,327,937 probably benign Het
Atp13a2 G A 4: 141,000,770 C558Y probably damaging Het
BC017643 T C 11: 121,225,845 Y86C probably damaging Het
Btbd1 G A 7: 81,801,049 R328* probably null Het
Chd8 A T 14: 52,205,490 N534K probably benign Het
Dlgap2 C T 8: 14,778,301 R570* probably null Het
Eri2 A C 7: 119,790,249 F149V probably damaging Het
Esyt1 A G 10: 128,511,494 M1054T probably damaging Het
Gcm2 A G 13: 41,105,741 V84A probably damaging Het
Gm597 A T 1: 28,777,453 H499Q probably benign Het
Got1 A C 19: 43,524,409 V16G probably damaging Het
Itga9 C T 9: 118,607,111 R62C probably damaging Het
Kif21a T C 15: 90,943,864 R1232G possibly damaging Het
Map1a A G 2: 121,305,207 Y1930C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr384 T C 11: 73,603,230 S217P probably damaging Het
Olfr701 G A 7: 106,818,620 C179Y probably damaging Het
Pclo A G 5: 14,521,108 K169R probably damaging Het
Rnf169 A C 7: 99,955,484 Y174D probably damaging Het
Sarm1 T C 11: 78,490,811 E282G probably damaging Het
Sec24a A G 11: 51,708,956 S840P possibly damaging Het
Skor2 A T 18: 76,858,667 Q28L unknown Het
Slc35f2 T C 9: 53,806,706 V168A possibly damaging Het
Slc6a7 A T 18: 61,005,773 L221Q probably damaging Het
Syt4 A T 18: 31,441,643 V307E probably damaging Het
Tasp1 A G 2: 140,008,773 L110S probably benign Het
Thnsl1 T A 2: 21,212,159 D241E probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tpbpb A T 13: 60,902,134 D60E probably benign Het
Trip11 T C 12: 101,898,911 I168V probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wscd2 A G 5: 113,572,321 D302G probably damaging Het
Other mutations in Cdk8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0506:Cdk8 UTSW 5 146298872 missense probably damaging 1.00
R1132:Cdk8 UTSW 5 146299815 missense probably benign 0.09
R1513:Cdk8 UTSW 5 146296378 missense possibly damaging 0.93
R2231:Cdk8 UTSW 5 146231604 start gained probably benign
R3692:Cdk8 UTSW 5 146283668 nonsense probably null
R4157:Cdk8 UTSW 5 146299449 intron probably benign
R4760:Cdk8 UTSW 5 146292666 missense probably benign 0.15
R4804:Cdk8 UTSW 5 146296399 missense probably damaging 1.00
R5119:Cdk8 UTSW 5 146283627 critical splice acceptor site probably null
R6633:Cdk8 UTSW 5 146298846 nonsense probably null
R6755:Cdk8 UTSW 5 146268316 missense probably damaging 1.00
R7442:Cdk8 UTSW 5 146292769 critical splice donor site probably null
Posted On2013-11-18