Incidental Mutation 'R7130:Cdk19'
ID 552593
Institutional Source Beutler Lab
Gene Symbol Cdk19
Ensembl Gene ENSMUSG00000038481
Gene Name cyclin dependent kinase 19
Synonyms Cdc2l6, 2700084L06Rik
MMRRC Submission 045215-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7130 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 40225283-40359814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40355761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 490 (T490A)
Ref Sequence ENSEMBL: ENSMUSP00000040936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044672] [ENSMUST00000095743] [ENSMUST00000214659] [ENSMUST00000215000]
AlphaFold Q8BWD8
Predicted Effect unknown
Transcript: ENSMUST00000044672
AA Change: T490A
SMART Domains Protein: ENSMUSP00000040936
Gene: ENSMUSG00000038481
AA Change: T490A

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 unknown
Transcript: ENSMUST00000095743
AA Change: T446A
SMART Domains Protein: ENSMUSP00000093414
Gene: ENSMUSG00000038481
AA Change: T446A

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
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (63/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,418,021 (GRCm39) T735I possibly damaging Het
Abtb3 A C 10: 85,223,419 (GRCm39) D76A unknown Het
Adcy10 T A 1: 165,331,616 (GRCm39) V83E probably damaging Het
Adcy6 A G 15: 98,495,110 (GRCm39) Y701H probably benign Het
Apbb1 G A 7: 105,214,538 (GRCm39) H518Y probably damaging Het
Arhgap20 T A 9: 51,761,047 (GRCm39) V966E probably damaging Het
Bbx T A 16: 50,030,805 (GRCm39) probably null Het
Bpifb9b T A 2: 154,153,592 (GRCm39) N219K probably damaging Het
Cyb5r1 T G 1: 134,335,759 (GRCm39) probably benign Het
Dnah14 C T 1: 181,573,523 (GRCm39) Q2945* probably null Het
Eif5b A G 1: 38,080,857 (GRCm39) T733A probably damaging Het
Esyt3 T A 9: 99,200,223 (GRCm39) D657V probably benign Het
Fat4 T A 3: 39,034,936 (GRCm39) F2863I probably damaging Het
Fbxw14 T A 9: 109,100,350 (GRCm39) I435L probably benign Het
Fus G A 7: 127,573,585 (GRCm39) G253S unknown Het
Gdi2 T C 13: 3,598,891 (GRCm39) V25A probably benign Het
Gm28729 T G 9: 96,401,457 (GRCm39) R110S probably benign Het
Gucd1 A G 10: 75,347,951 (GRCm39) L28P possibly damaging Het
Hmgxb3 C T 18: 61,265,450 (GRCm39) S1176N probably benign Het
Islr2 T C 9: 58,105,575 (GRCm39) T606A probably damaging Het
Kcnf1 T C 12: 17,225,810 (GRCm39) D137G probably benign Het
Klkb1 T A 8: 45,728,575 (GRCm39) T395S probably benign Het
Morc2b T A 17: 33,355,262 (GRCm39) S837C possibly damaging Het
Mrpl9 A G 3: 94,354,597 (GRCm39) R204G probably benign Het
Naaladl1 A G 19: 6,156,018 (GRCm39) E64G probably benign Het
Nlrx1 T C 9: 44,173,638 (GRCm39) E521G possibly damaging Het
Npc2 A G 12: 84,812,081 (GRCm39) S54P probably damaging Het
Nxpe2 T C 9: 48,250,837 (GRCm39) M37V probably benign Het
Or2ag17 A G 7: 106,389,389 (GRCm39) L273P probably benign Het
Or2w1 T G 13: 21,317,416 (GRCm39) V157G probably benign Het
Or4b1b T C 2: 90,112,266 (GRCm39) I218V probably benign Het
Or9s27 C T 1: 92,516,634 (GRCm39) A194V probably benign Het
Osbpl9 G A 4: 108,940,296 (GRCm39) R213C probably benign Het
Pard3 C A 8: 128,142,164 (GRCm39) R907S probably damaging Het
Pcdhb11 A G 18: 37,556,559 (GRCm39) S630G probably benign Het
Pcdhb17 G A 18: 37,618,498 (GRCm39) C96Y probably damaging Het
Pclo C T 5: 14,729,356 (GRCm39) T2738I unknown Het
Pcnx2 G A 8: 126,480,323 (GRCm39) R1995* probably null Het
Ppm1a T A 12: 72,831,007 (GRCm39) N177K probably benign Het
Rfx6 A T 10: 51,554,476 (GRCm39) K106* probably null Het
Rhoh T C 5: 66,050,207 (GRCm39) V159A probably damaging Het
Rreb1 T C 13: 38,083,724 (GRCm39) V129A probably damaging Het
Sdccag8 C A 1: 176,702,167 (GRCm39) A424D probably damaging Het
Sdf2 T C 11: 78,136,823 (GRCm39) M1T probably null Het
Sftpb T A 6: 72,282,808 (GRCm39) F94I possibly damaging Het
Slc38a2 G T 15: 96,589,263 (GRCm39) H410Q probably damaging Het
Slc40a1 A T 1: 45,960,384 (GRCm39) V68E probably damaging Het
Spopfm3 T C 3: 94,105,834 (GRCm39) W51R probably damaging Het
Srd5a3 T C 5: 76,297,684 (GRCm39) V162A possibly damaging Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Tango6 A G 8: 107,533,733 (GRCm39) D953G probably damaging Het
Tdrd7 T C 4: 46,029,693 (GRCm39) S1009P probably damaging Het
Thap3 T C 4: 152,073,373 (GRCm39) Y14C possibly damaging Het
Tmem143 T A 7: 45,558,901 (GRCm39) M281K possibly damaging Het
Trio TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC 15: 27,742,399 (GRCm39) probably benign Het
Tsga10 A G 1: 37,822,965 (GRCm39) I516T probably damaging Het
Ttn T C 2: 76,721,013 (GRCm39) I6804V unknown Het
Ubtfl1 C A 9: 18,321,143 (GRCm39) P224T probably damaging Het
Umad1 G T 6: 8,427,185 (GRCm39) C120F probably null Het
Unc93a2 T C 17: 7,637,824 (GRCm39) T304A probably benign Het
Vinac1 A T 2: 128,881,101 (GRCm39) V275D Het
Vmn2r79 T C 7: 86,651,474 (GRCm39) V291A 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
R5078:Cdk19 UTSW 10 40,312,150 (GRCm39) missense probably damaging 1.00
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'- GGTCTCACAGGCTACAGTTTC -3'
(R):5'- TCCTTCAAAACACTTAGCATGC -3'

Sequencing Primer
(F):5'- CATAGCAGGAGCCTCATGATG -3'
(R):5'- CATGCAAAGGTTTCCTCTCAAGGG -3'
Posted On 2019-05-15