Incidental Mutation 'IGL01067:Plk1'
ID 51437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plk1
Ensembl Gene ENSMUSG00000030867
Gene Name polo like kinase 1
Synonyms STPK13, Plk
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01067
Quality Score
Status
Chromosome 7
Chromosomal Location 121758662-121769096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121768148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 456 (R456H)
Ref Sequence ENSEMBL: ENSMUSP00000033154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033153] [ENSMUST00000033154] [ENSMUST00000206198] [ENSMUST00000206470]
AlphaFold Q07832
Predicted Effect probably benign
Transcript: ENSMUST00000033153
SMART Domains Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
PQQ 33 64 5.5e-8 SMART
PQQ 115 147 4.7e-4 SMART
PQQ 148 180 6.1e-2 SMART
PQQ 192 223 6.2e-3 SMART
low complexity region 449 461 N/A INTRINSIC
S_TKc 508 768 2.5e-11 SMART
PUG 831 888 9e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000033154
AA Change: R456H

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867
AA Change: R456H

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
low complexity region 20 35 N/A INTRINSIC
S_TKc 53 305 7.36e-95 SMART
low complexity region 354 365 N/A INTRINSIC
Pfam:POLO_box 418 479 4.4e-24 PFAM
Pfam:POLO_box 516 583 3.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206202
Predicted Effect probably benign
Transcript: ENSMUST00000206470
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and may play a role in DNA replication during S phase. This gene is expressed in all embryonic tissues, but restricted to thymus and ovaries in adult tissues. Homozygous knockout mice were embryonic lethal, suggesting that this gene is important for early embryonic development. This gene is thought to be a potential oncogene because it is overexpressed in a variety of tumors and tumor cell lines. Depletion of this protein in cancer cells has been shown to inhibit cell proliferation and suppress oncogenic transformation; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null mutation display lethality before implantation, embryonic growth arrest, and impaired mitosis. Mice heterozygous for a null mutation display increased tumor incidence and increased incidence of aneuploidy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
A330008L17Rik T C 8: 100,148,586 (GRCm39) noncoding transcript Het
Acp4 C T 7: 43,902,876 (GRCm39) V331I probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Alg6 T C 4: 99,629,807 (GRCm39) V128A probably benign Het
Ank3 A G 10: 69,686,026 (GRCm39) K280E probably damaging Het
Bfar T C 16: 13,503,105 (GRCm39) C36R probably damaging Het
Car14 A G 3: 95,806,128 (GRCm39) I311T probably damaging Het
Cd300c T C 11: 114,851,253 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,096 (GRCm39) E513V probably damaging Het
Clip1 C A 5: 123,768,867 (GRCm39) K612N probably damaging Het
Depdc5 A G 5: 33,056,411 (GRCm39) probably null Het
Dock3 A T 9: 106,959,572 (GRCm39) probably null Het
Dph6 A T 2: 114,478,290 (GRCm39) M17K probably damaging Het
Enkur T C 2: 21,194,042 (GRCm39) Q177R probably benign Het
Faap100 T C 11: 120,262,958 (GRCm39) H800R probably damaging Het
Fastkd2 T G 1: 63,776,930 (GRCm39) probably benign Het
Fcgr2b A T 1: 170,795,622 (GRCm39) N102K possibly damaging Het
Fezf1 C T 6: 23,247,842 (GRCm39) V78I possibly damaging Het
Fmn2 A T 1: 174,330,885 (GRCm39) D425V unknown Het
Fnta G A 8: 26,497,229 (GRCm39) Q207* probably null Het
Fpr3 T A 17: 18,190,828 (GRCm39) V33D probably benign Het
Fshr C T 17: 89,292,821 (GRCm39) C619Y possibly damaging Het
Gbp3 T C 3: 142,272,358 (GRCm39) probably null Het
Gjb2 A G 14: 57,337,629 (GRCm39) V193A possibly damaging Het
Il4ra A G 7: 125,174,333 (GRCm39) T292A probably benign Het
Lama5 A G 2: 179,818,336 (GRCm39) probably benign Het
Marveld3 G T 8: 110,688,596 (GRCm39) D48E possibly damaging Het
Meox1 A T 11: 101,784,599 (GRCm39) I78N probably benign Het
Ncor1 A T 11: 62,283,354 (GRCm39) H444Q probably damaging Het
Ndst3 T C 3: 123,340,466 (GRCm39) Q784R probably damaging Het
Or10ag2 A G 2: 87,248,714 (GRCm39) I107M probably benign Het
Or4k44 T A 2: 111,368,359 (GRCm39) I92F probably damaging Het
Pld5 A T 1: 176,102,445 (GRCm39) probably benign Het
Polr2a T A 11: 69,638,840 (GRCm39) I65F possibly damaging Het
Ptprd T A 4: 75,977,922 (GRCm39) I196F probably damaging Het
Qsox2 T C 2: 26,118,408 (GRCm39) N121S probably damaging Het
Reln A G 5: 22,184,664 (GRCm39) L1617S probably damaging Het
Rragc T C 4: 123,823,761 (GRCm39) F345L probably benign Het
Sass6 A T 3: 116,407,605 (GRCm39) E240D possibly damaging Het
Shcbp1l A C 1: 153,311,770 (GRCm39) S308R possibly damaging Het
Slc1a5 T A 7: 16,520,804 (GRCm39) C224* probably null Het
Slc27a5 T C 7: 12,722,999 (GRCm39) E567G probably damaging Het
Synj2 T A 17: 6,088,201 (GRCm39) N1417K possibly damaging Het
Tbc1d9 A G 8: 83,960,791 (GRCm39) T214A probably damaging Het
Tjp3 C A 10: 81,109,699 (GRCm39) V835L probably benign Het
Trpc4 C A 3: 54,129,983 (GRCm39) Q250K probably benign Het
Ttn A T 2: 76,575,506 (GRCm39) I25129N probably damaging Het
Ube4a T A 9: 44,856,163 (GRCm39) Y523F probably damaging Het
Zfp971 G A 2: 177,665,175 (GRCm39) probably null Het
Other mutations in Plk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02895:Plk1 APN 7 121,768,389 (GRCm39) missense possibly damaging 0.91
IGL03143:Plk1 APN 7 121,760,877 (GRCm39) intron probably benign
R0018:Plk1 UTSW 7 121,768,208 (GRCm39) critical splice donor site probably null
R1365:Plk1 UTSW 7 121,767,852 (GRCm39) missense probably damaging 1.00
R1710:Plk1 UTSW 7 121,768,121 (GRCm39) missense probably damaging 1.00
R2016:Plk1 UTSW 7 121,761,663 (GRCm39) missense probably damaging 1.00
R2248:Plk1 UTSW 7 121,768,044 (GRCm39) unclassified probably benign
R2327:Plk1 UTSW 7 121,759,118 (GRCm39) missense probably benign
R4887:Plk1 UTSW 7 121,767,828 (GRCm39) missense probably damaging 1.00
R6246:Plk1 UTSW 7 121,768,659 (GRCm39) missense probably damaging 1.00
R7698:Plk1 UTSW 7 121,768,481 (GRCm39) missense probably damaging 1.00
R9319:Plk1 UTSW 7 121,768,122 (GRCm39) missense probably damaging 0.97
Z1176:Plk1 UTSW 7 121,766,873 (GRCm39) missense not run
Z1177:Plk1 UTSW 7 121,766,873 (GRCm39) missense not run
Posted On 2013-06-21