Incidental Mutation 'IGL03380:Cdk19'
ID420640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk19
Ensembl Gene ENSMUSG00000038481
Gene Namecyclin-dependent kinase 19
SynonymsCdc2l6, 2700084L06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03380
Quality Score
Status
Chromosome10
Chromosomal Location40339564-40483818 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 40476912 bp
ZygosityHeterozygous
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]
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: 9,298,574 N2774D probably benign Het
Aldh1a2 T G 9: 71,255,117 Y149* probably null Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap23 A G 11: 97,452,518 D542G probably damaging Het
Atp8a1 T C 5: 67,732,186 E582G probably benign Het
C4b A T 17: 34,740,286 V438D probably benign Het
Caps2 A G 10: 112,200,696 E345G probably benign Het
Drc3 A G 11: 60,377,905 E307G probably benign Het
Dst G A 1: 34,257,800 A1041T probably damaging Het
Elp2 T C 18: 24,622,480 V428A probably benign Het
Eml5 G T 12: 98,874,647 probably benign Het
Fam120b G A 17: 15,403,134 probably benign Het
Fpr-rs6 G A 17: 20,182,983 L39F possibly damaging Het
Fsd1 T C 17: 55,995,456 I300T probably benign Het
Hsd17b6 T C 10: 127,994,338 probably null Het
Hspa1a T C 17: 34,970,277 K550R probably benign Het
Krba1 A G 6: 48,403,453 H37R possibly damaging Het
Lama2 T C 10: 27,050,265 D2117G probably damaging Het
Map4k2 T C 19: 6,344,590 F332S possibly damaging Het
Mindy1 T C 3: 95,291,018 probably benign Het
Nhsl1 T G 10: 18,523,879 Y284* probably null Het
Olfr1463 T A 19: 13,235,001 F250L probably benign Het
Pkhd1 T A 1: 20,200,670 T3220S probably damaging Het
Pramel7 A T 2: 87,491,372 D106E probably benign Het
Psme3 T C 11: 101,320,026 probably null Het
Rsph1 T C 17: 31,277,236 E7G unknown Het
Slc13a2 T C 11: 78,399,082 T469A probably benign Het
Slc30a9 C T 5: 67,315,711 T46I probably benign Het
Slc37a4 T G 9: 44,400,023 S204A probably benign Het
Slc8b1 T C 5: 120,519,735 F88L probably damaging Het
Smpd3 C T 8: 106,259,659 V504I probably benign Het
Tbx4 A G 11: 85,914,639 N418S probably benign Het
Tmem132c A G 5: 127,536,442 T470A probably benign Het
Tmem207 A T 16: 26,526,657 C20S probably damaging Het
Usp43 G A 11: 67,875,316 A761V possibly damaging Het
Vmn1r191 C T 13: 22,178,885 S233N probably damaging Het
Vmn2r58 T A 7: 41,864,450 E256D probably benign Het
Zc3hav1 T C 6: 38,336,558 Y184C probably damaging Het
Other mutations in Cdk19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Cdk19 APN 10 40436165 missense probably benign 0.14
IGL00482:Cdk19 APN 10 40469648 missense possibly damaging 0.61
R0217:Cdk19 UTSW 10 40476258 splice site probably benign
R1639:Cdk19 UTSW 10 40476969 critical splice donor site probably null
R1899:Cdk19 UTSW 10 40479780 utr 3 prime probably benign
R2102:Cdk19 UTSW 10 40479730 utr 3 prime probably benign
R3828:Cdk19 UTSW 10 40475613 missense probably damaging 0.96
R4124:Cdk19 UTSW 10 40394395 missense probably benign 0.09
R4125:Cdk19 UTSW 10 40394395 missense probably benign 0.09
R4128:Cdk19 UTSW 10 40394395 missense probably benign 0.09
R4474:Cdk19 UTSW 10 40469956 critical splice donor site probably null
R4668:Cdk19 UTSW 10 40466710 missense probably damaging 0.98
R4750:Cdk19 UTSW 10 40476199 missense probably damaging 1.00
R4871:Cdk19 UTSW 10 40476236 missense probably benign 0.03
R4993:Cdk19 UTSW 10 40476218 missense possibly damaging 0.79
R5078:Cdk19 UTSW 10 40436154 missense probably damaging 1.00
R7130:Cdk19 UTSW 10 40479765 missense unknown
R7570:Cdk19 UTSW 10 40477958 missense possibly damaging 0.80
Posted On2016-08-02