Incidental Mutation 'R5078:Cdk19'
ID 386967
Institutional Source Beutler Lab
Gene Symbol Cdk19
Ensembl Gene ENSMUSG00000038481
Gene Name cyclin dependent kinase 19
Synonyms Cdc2l6, 2700084L06Rik
MMRRC Submission 042667-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5078 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 40225283-40359814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40312150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 133 (Y133C)
Ref Sequence ENSEMBL: ENSMUSP00000149435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044672] [ENSMUST00000095743] [ENSMUST00000214659] [ENSMUST00000215000]
AlphaFold Q8BWD8
Predicted Effect probably damaging
Transcript: ENSMUST00000044672
AA Change: Y133C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040936
Gene: ENSMUSG00000038481
AA Change: Y133C

DomainStartEndE-ValueType
S_TKc 21 335 9.96e-83 SMART
low complexity region 371 405 N/A INTRINSIC
low complexity region 407 422 N/A INTRINSIC
low complexity region 467 499 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000095743
AA Change: Y133C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093414
Gene: ENSMUSG00000038481
AA Change: Y133C

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 22 172 7.2e-17 PFAM
Pfam:Pkinase 23 166 2.5e-29 PFAM
Pfam:Pkinase 164 291 1.2e-11 PFAM
low complexity region 327 361 N/A INTRINSIC
low complexity region 363 378 N/A INTRINSIC
low complexity region 423 455 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000214659
AA Change: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216736
Meta Mutation Damage Score 0.7056 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 T C 16: 4,141,771 (GRCm39) S345G probably benign Het
Adgrf2 A T 17: 43,021,877 (GRCm39) F316I probably damaging Het
Ank2 A G 3: 126,736,002 (GRCm39) probably benign Het
Auts2 T C 5: 132,287,786 (GRCm39) K66E possibly damaging Het
Bicra T C 7: 15,709,382 (GRCm39) D1144G probably damaging Het
Cabin1 A G 10: 75,557,312 (GRCm39) S1109P probably damaging Het
Camkv T C 9: 107,822,572 (GRCm39) V29A probably damaging Het
Ccdc178 A T 18: 22,200,685 (GRCm39) probably null Het
Ccser1 G A 6: 61,288,350 (GRCm39) R171H probably damaging Het
Cerkl T A 2: 79,223,352 (GRCm39) D123V probably benign Het
Chd1 T C 17: 15,946,616 (GRCm39) S121P possibly damaging Het
Col4a2 T C 8: 11,493,936 (GRCm39) V1459A probably benign Het
Dlg1 T A 16: 31,675,287 (GRCm39) Y704* probably null Het
Dsg2 T C 18: 20,729,140 (GRCm39) probably null Het
Egln3 T C 12: 54,228,453 (GRCm39) R218G probably damaging Het
Gm11568 T C 11: 99,749,181 (GRCm39) C129R unknown Het
Gm13991 T C 2: 116,358,355 (GRCm39) noncoding transcript Het
Gmnc C A 16: 26,784,332 (GRCm39) V58L probably benign Het
Gpx5 A G 13: 21,472,881 (GRCm39) F151S probably damaging Het
Helz G A 11: 107,546,922 (GRCm39) G1079R probably damaging Het
Ice1 T C 13: 70,752,969 (GRCm39) E1039G probably benign Het
Kif18a T C 2: 109,125,487 (GRCm39) probably benign Het
Klhl29 T C 12: 5,143,530 (GRCm39) T500A possibly damaging Het
Lrfn5 A C 12: 61,890,660 (GRCm39) K650Q possibly damaging Het
Lrp2 T C 2: 69,331,874 (GRCm39) D1627G possibly damaging Het
Nxn T C 11: 76,152,433 (GRCm39) K354E probably damaging Het
Or5d20-ps1 T A 2: 87,931,879 (GRCm39) I151L probably benign Het
Pcnx2 T C 8: 126,478,895 (GRCm39) T2118A probably benign Het
Phldb2 A G 16: 45,598,105 (GRCm39) F861L possibly damaging Het
Piezo2 A G 18: 63,157,607 (GRCm39) Y2368H probably damaging Het
Pnp T A 14: 51,188,963 (GRCm39) L252* probably null Het
Prom2 T C 2: 127,373,757 (GRCm39) Q641R probably benign Het
Prpf31 T C 7: 3,637,702 (GRCm39) S180P possibly damaging Het
Prss27 C A 17: 24,263,414 (GRCm39) Y142* probably null Het
Ripk1 T G 13: 34,201,082 (GRCm39) M265R probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ropn1 T A 16: 34,487,161 (GRCm39) D32E probably damaging Het
Rps23 T C 13: 91,071,822 (GRCm39) F41L probably benign Het
Sec24d A G 3: 123,084,201 (GRCm39) I127V probably benign Het
Selenot C T 3: 58,492,692 (GRCm39) R60W probably damaging Het
Tll1 T C 8: 64,546,921 (GRCm39) K342E probably damaging Het
Tlx1 A T 19: 45,144,460 (GRCm39) N61Y probably damaging Het
Vmn2r117 T A 17: 23,679,122 (GRCm39) I701F probably damaging Het
Zmynd12 A G 4: 119,302,047 (GRCm39) K229E probably damaging Het
Other mutations in Cdk19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Cdk19 APN 10 40,312,161 (GRCm39) missense probably benign 0.14
IGL00482:Cdk19 APN 10 40,345,644 (GRCm39) missense possibly damaging 0.61
IGL03380:Cdk19 APN 10 40,352,908 (GRCm39) missense probably benign 0.42
R0217:Cdk19 UTSW 10 40,352,254 (GRCm39) splice site probably benign
R1639:Cdk19 UTSW 10 40,352,965 (GRCm39) critical splice donor site probably null
R1899:Cdk19 UTSW 10 40,355,776 (GRCm39) utr 3 prime probably benign
R2102:Cdk19 UTSW 10 40,355,726 (GRCm39) utr 3 prime probably benign
R3828:Cdk19 UTSW 10 40,351,609 (GRCm39) missense probably damaging 0.96
R4124:Cdk19 UTSW 10 40,270,391 (GRCm39) missense probably benign 0.09
R4125:Cdk19 UTSW 10 40,270,391 (GRCm39) missense probably benign 0.09
R4128:Cdk19 UTSW 10 40,270,391 (GRCm39) missense probably benign 0.09
R4474:Cdk19 UTSW 10 40,345,952 (GRCm39) critical splice donor site probably null
R4668:Cdk19 UTSW 10 40,342,706 (GRCm39) missense probably damaging 0.98
R4750:Cdk19 UTSW 10 40,352,195 (GRCm39) missense probably damaging 1.00
R4871:Cdk19 UTSW 10 40,352,232 (GRCm39) missense probably benign 0.03
R4993:Cdk19 UTSW 10 40,352,214 (GRCm39) missense possibly damaging 0.79
R7130:Cdk19 UTSW 10 40,355,761 (GRCm39) missense unknown
R7570:Cdk19 UTSW 10 40,353,954 (GRCm39) missense possibly damaging 0.80
R8179:Cdk19 UTSW 10 40,270,368 (GRCm39) missense possibly damaging 0.89
R9027:Cdk19 UTSW 10 40,355,728 (GRCm39) missense unknown
R9438:Cdk19 UTSW 10 40,352,176 (GRCm39) missense probably damaging 1.00
R9684:Cdk19 UTSW 10 40,351,594 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAACATGGCCACATTCATCCC -3'
(R):5'- GCTCCCAGTCTTTTGATTGTAG -3'

Sequencing Primer
(F):5'- TGGCCACATTCATCCCAAAATACAG -3'
(R):5'- AGTGACTTTTTAATCTCTCCTTTTGC -3'
Posted On 2016-06-06