Incidental Mutation 'R9738:Cdk8'
ID 731719
Institutional Source Beutler Lab
Gene Symbol Cdk8
Ensembl Gene ENSMUSG00000029635
Gene Name cyclin dependent kinase 8
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9738 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 146168040-146239684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146236539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 318 (N318S)
Ref Sequence ENSEMBL: ENSMUSP00000125668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031640] [ENSMUST00000161181] [ENSMUST00000162494]
AlphaFold Q8R3L8
Predicted Effect probably benign
Transcript: ENSMUST00000031640
AA Change: N383S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031640
Gene: ENSMUSG00000029635
AA Change: N383S

DomainStartEndE-ValueType
S_TKc 21 335 1.89e-83 SMART
low complexity region 372 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161181
AA Change: N318S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125668
Gene: ENSMUSG00000029635
AA Change: N318S

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 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.3%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b A G 12: 70,216,039 (GRCm39) T199A probably benign Het
Ank2 A G 3: 126,737,121 (GRCm39) F2921S unknown Het
Atg12 A G 18: 46,874,505 (GRCm39) S37P probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cdh5 A G 8: 104,863,329 (GRCm39) D413G probably damaging Het
Clasp2 T A 9: 113,590,665 (GRCm39) L68* probably null Het
Cntnap2 CCACATAAACAACACACA CCACA 6: 45,992,373 (GRCm39) probably null Het
Cpne9 A C 6: 113,267,401 (GRCm39) N194T probably damaging Het
Cpxm1 A G 2: 130,235,302 (GRCm39) probably null Het
Crtc1 T C 8: 70,840,205 (GRCm39) N556S probably damaging Het
Gm12888 A T 4: 121,175,520 (GRCm39) C87* probably null Het
Hivep2 A G 10: 14,019,583 (GRCm39) E2118G probably damaging Het
Hrh4 A G 18: 13,155,270 (GRCm39) N270D possibly damaging Het
Iqsec1 G A 6: 90,671,672 (GRCm39) Q77* probably null Het
Lars1 A G 18: 42,350,649 (GRCm39) W887R probably damaging Het
Lgr5 A G 10: 115,288,527 (GRCm39) Y706H probably damaging Het
Ltn1 A T 16: 87,222,524 (GRCm39) F170I probably damaging Het
Msrb1 T C 17: 24,958,535 (GRCm39) S40P probably damaging Het
Myh6 T C 14: 55,189,759 (GRCm39) I1096V probably benign Het
Myh7b A G 2: 155,455,963 (GRCm39) Y116C probably damaging Het
Ndrg2 T C 14: 52,148,238 (GRCm39) H41R possibly damaging Het
Or5an11 A G 19: 12,245,869 (GRCm39) T92A probably benign Het
Spag17 A G 3: 99,934,526 (GRCm39) T603A possibly damaging Het
Sugp1 T A 8: 70,505,256 (GRCm39) H74Q probably benign Het
Tjp1 T C 7: 64,986,380 (GRCm39) T243A probably benign Het
Tsnaxip1 A G 8: 106,568,390 (GRCm39) E358G possibly damaging Het
Unc5d T A 8: 29,214,332 (GRCm39) H410L probably benign Het
Usp1 T C 4: 98,819,672 (GRCm39) V378A probably benign Het
Wdtc1 A G 4: 133,022,604 (GRCm39) S581P probably damaging Het
Zfp947 A G 17: 22,365,341 (GRCm39) V111A probably benign Het
Other mutations in Cdk8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01476:Cdk8 APN 5 146,231,973 (GRCm39) splice site probably null
R0506:Cdk8 UTSW 5 146,235,682 (GRCm39) missense probably damaging 1.00
R1132:Cdk8 UTSW 5 146,236,625 (GRCm39) missense probably benign 0.09
R1513:Cdk8 UTSW 5 146,233,188 (GRCm39) missense possibly damaging 0.93
R2231:Cdk8 UTSW 5 146,168,414 (GRCm39) start gained probably benign
R3692:Cdk8 UTSW 5 146,220,478 (GRCm39) nonsense probably null
R4157:Cdk8 UTSW 5 146,236,259 (GRCm39) intron probably benign
R4760:Cdk8 UTSW 5 146,229,476 (GRCm39) missense probably benign 0.15
R4804:Cdk8 UTSW 5 146,233,209 (GRCm39) missense probably damaging 1.00
R5119:Cdk8 UTSW 5 146,220,437 (GRCm39) critical splice acceptor site probably null
R6633:Cdk8 UTSW 5 146,235,656 (GRCm39) nonsense probably null
R6755:Cdk8 UTSW 5 146,205,126 (GRCm39) missense probably damaging 1.00
R7442:Cdk8 UTSW 5 146,229,579 (GRCm39) critical splice donor site probably null
R7936:Cdk8 UTSW 5 146,236,644 (GRCm39) missense possibly damaging 0.49
R8083:Cdk8 UTSW 5 146,205,100 (GRCm39) missense probably damaging 1.00
R8315:Cdk8 UTSW 5 146,205,061 (GRCm39) missense probably damaging 1.00
R9159:Cdk8 UTSW 5 146,168,549 (GRCm39) missense probably damaging 1.00
R9643:Cdk8 UTSW 5 146,235,664 (GRCm39) missense probably damaging 1.00
Z1177:Cdk8 UTSW 5 146,238,447 (GRCm39) missense probably benign 0.00
Z1177:Cdk8 UTSW 5 146,236,606 (GRCm39) missense probably damaging 0.99
Z1177:Cdk8 UTSW 5 146,236,605 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TTTCGCCGGTTGTCAGATCC -3'
(R):5'- TGTCTTTCCAGGAACACAAACG -3'

Sequencing Primer
(F):5'- GCCGGTTGTCAGATCCCATATC -3'
(R):5'- TGTAGTCCACACTTTACAACAGATCG -3'
Posted On 2022-11-14