Incidental Mutation 'IGL03380:Cdk19'
ID 420640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk19
Ensembl Gene ENSMUSG00000038481
Gene Name cyclin dependent kinase 19
Synonyms Cdc2l6, 2700084L06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03380
Quality Score
Status
Chromosome 10
Chromosomal Location 40225283-40359814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40352908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 308 (P308L)
Ref Sequence ENSEMBL: ENSMUSP00000093414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044672] [ENSMUST00000095743] [ENSMUST00000214659] [ENSMUST00000215000]
AlphaFold Q8BWD8
Predicted Effect probably benign
Transcript: ENSMUST00000044672
AA Change: P352L

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040936
Gene: ENSMUSG00000038481
AA Change: P352L

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 benign
Transcript: ENSMUST00000095743
AA Change: P308L

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000093414
Gene: ENSMUSG00000038481
AA Change: P308L

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 benign
Transcript: ENSMUST00000214659
Predicted Effect probably benign
Transcript: ENSMUST00000215000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216736
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,574 (GRCm39) N2774D probably benign Het
Aldh1a2 T G 9: 71,162,399 (GRCm39) Y149* probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap23 A G 11: 97,343,344 (GRCm39) D542G probably damaging Het
Atp8a1 T C 5: 67,889,529 (GRCm39) E582G probably benign Het
C4b A T 17: 34,959,260 (GRCm39) V438D probably benign Het
Caps2 A G 10: 112,036,601 (GRCm39) E345G probably benign Het
Drc3 A G 11: 60,268,731 (GRCm39) E307G probably benign Het
Dst G A 1: 34,296,881 (GRCm39) A1041T probably damaging Het
Elp2 T C 18: 24,755,537 (GRCm39) V428A probably benign Het
Eml5 G T 12: 98,840,906 (GRCm39) probably benign Het
Fam120b G A 17: 15,623,396 (GRCm39) probably benign Het
Fpr-rs6 G A 17: 20,403,245 (GRCm39) L39F possibly damaging Het
Fsd1 T C 17: 56,302,456 (GRCm39) I300T probably benign Het
Hsd17b6 T C 10: 127,830,207 (GRCm39) probably null Het
Hspa1a T C 17: 35,189,253 (GRCm39) K550R probably benign Het
Krba1 A G 6: 48,380,387 (GRCm39) H37R possibly damaging Het
Lama2 T C 10: 26,926,261 (GRCm39) D2117G probably damaging Het
Map4k2 T C 19: 6,394,620 (GRCm39) F332S possibly damaging Het
Mindy1 T C 3: 95,198,329 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,399,627 (GRCm39) Y284* probably null Het
Or5b109 T A 19: 13,212,365 (GRCm39) F250L probably benign Het
Pkhd1 T A 1: 20,270,894 (GRCm39) T3220S probably damaging Het
Pramel7 A T 2: 87,321,716 (GRCm39) D106E probably benign Het
Psme3 T C 11: 101,210,852 (GRCm39) probably null Het
Rsph1 T C 17: 31,496,210 (GRCm39) E7G unknown Het
Slc13a2 T C 11: 78,289,908 (GRCm39) T469A probably benign Het
Slc30a9 C T 5: 67,473,054 (GRCm39) T46I probably benign Het
Slc37a4 T G 9: 44,311,320 (GRCm39) S204A probably benign Het
Slc8b1 T C 5: 120,657,800 (GRCm39) F88L probably damaging Het
Smpd3 C T 8: 106,986,291 (GRCm39) V504I probably benign Het
Tbx4 A G 11: 85,805,465 (GRCm39) N418S probably benign Het
Tmem132c A G 5: 127,613,506 (GRCm39) T470A probably benign Het
Tmem207 A T 16: 26,345,407 (GRCm39) C20S probably damaging Het
Usp43 G A 11: 67,766,142 (GRCm39) A761V possibly damaging Het
Vmn1r191 C T 13: 22,363,055 (GRCm39) S233N probably damaging Het
Vmn2r58 T A 7: 41,513,874 (GRCm39) E256D probably benign Het
Zc3hav1 T C 6: 38,313,493 (GRCm39) Y184C 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
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
R5078:Cdk19 UTSW 10 40,312,150 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02