Incidental Mutation 'R0018:Plk1'
ID 64938
Institutional Source Beutler Lab
Gene Symbol Plk1
Ensembl Gene ENSMUSG00000030867
Gene Name polo like kinase 1
Synonyms STPK13, Plk
MMRRC Submission 038313-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0018 (G1)
Quality Score 130
Status Validated
Chromosome 7
Chromosomal Location 121758662-121769096 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 121768208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033153] [ENSMUST00000033154] [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 null
Transcript: ENSMUST00000033154
SMART Domains Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867

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 null
Transcript: ENSMUST00000033154
SMART Domains Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867

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
Meta Mutation Damage Score 0.9594 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 100% (64/64)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,532,162 (GRCm39) probably null Het
Afp A C 5: 90,654,600 (GRCm39) Q546P probably damaging Het
Api5 A T 2: 94,251,329 (GRCm39) probably null Het
Atp2b4 T A 1: 133,645,609 (GRCm39) I982F probably damaging Het
BC024139 G A 15: 76,005,087 (GRCm39) Q592* probably null Het
Capn7 T A 14: 31,076,069 (GRCm39) C290* probably null Het
Ccn1 A G 3: 145,355,186 (GRCm39) L23P probably damaging Het
Celsr1 T A 15: 85,915,243 (GRCm39) D910V possibly damaging Het
Chga T C 12: 102,524,764 (GRCm39) S45P probably damaging Het
Cpne2 T A 8: 95,282,681 (GRCm39) C59S possibly damaging Het
Cyp2b13 G A 7: 25,785,375 (GRCm39) R248H probably benign Het
Dennd1a T A 2: 37,748,472 (GRCm39) T336S possibly damaging Het
Drc7 A G 8: 95,800,862 (GRCm39) Y628C probably damaging Het
Dse A G 10: 34,029,464 (GRCm39) V542A probably benign Het
Dspp A T 5: 104,326,096 (GRCm39) S820C unknown Het
Efcab3 G A 11: 104,612,378 (GRCm39) probably null Het
Eif5b T C 1: 38,057,970 (GRCm39) S91P unknown Het
Epop A G 11: 97,519,017 (GRCm39) V364A probably benign Het
Ext2 G A 2: 93,626,037 (GRCm39) P341L probably damaging Het
Galns T C 8: 123,311,724 (GRCm39) T429A probably benign Het
Gsx2 A G 5: 75,237,828 (GRCm39) K260R probably damaging Het
H2-M10.6 A C 17: 37,124,941 (GRCm39) H286P probably damaging Het
Hectd4 A G 5: 121,392,242 (GRCm39) N169D possibly damaging Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Hmcn1 T C 1: 150,528,302 (GRCm39) D3282G probably benign Het
Hnmt T A 2: 23,893,640 (GRCm39) N285Y possibly damaging Het
Hr A G 14: 70,795,717 (GRCm39) R450G probably benign Het
Kat6a A G 8: 23,419,289 (GRCm39) D684G possibly damaging Het
Kif27 T G 13: 58,435,867 (GRCm39) I1309L probably benign Het
Mab21l4 T A 1: 93,082,327 (GRCm39) D264V probably benign Het
Man2b1 T A 8: 85,824,118 (GRCm39) V1005E probably damaging Het
Me2 A T 18: 73,924,923 (GRCm39) F265I possibly damaging Het
Myo9a A T 9: 59,779,007 (GRCm39) T1588S probably benign Het
Neu4 T A 1: 93,953,060 (GRCm39) D476E probably benign Het
Nlrp9c T A 7: 26,071,423 (GRCm39) Q895L possibly damaging Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or1p1c A C 11: 74,160,934 (GRCm39) T240P probably benign Het
Pdzd8 C T 19: 59,289,105 (GRCm39) R765H probably damaging Het
Ppfia2 A G 10: 106,678,647 (GRCm39) probably benign Het
Prkdc T C 16: 15,544,406 (GRCm39) Y1799H probably benign Het
Psmc1 T C 12: 100,082,951 (GRCm39) probably benign Het
Ptchd3 A C 11: 121,733,170 (GRCm39) I687L probably benign Het
Ptprh A G 7: 4,604,845 (GRCm39) probably null Het
Pus3 A G 9: 35,477,920 (GRCm39) D384G probably benign Het
Rab44 C T 17: 29,358,354 (GRCm39) P181S probably benign Het
Rasa2 A G 9: 96,454,016 (GRCm39) S307P probably damaging Het
Rbpms2 A G 9: 65,558,360 (GRCm39) D142G probably damaging Het
Reln A T 5: 22,130,369 (GRCm39) D2647E probably benign Het
Ryr2 G A 13: 11,610,109 (GRCm39) T4239I possibly damaging Het
Sctr C A 1: 119,971,286 (GRCm39) probably benign Het
Serpinb6e A T 13: 34,021,828 (GRCm39) Y167N probably damaging Het
Slc13a5 T C 11: 72,157,301 (GRCm39) I31V probably benign Het
Slc15a4 A T 5: 127,679,074 (GRCm39) I422N probably damaging Het
Stk24 G A 14: 121,545,419 (GRCm39) probably benign Het
Vmn1r213 T A 13: 23,196,311 (GRCm39) V298D probably damaging Het
Xdh C T 17: 74,232,020 (GRCm39) R230H probably benign Het
Zfp418 A T 7: 7,185,449 (GRCm39) S471C probably benign Het
Other mutations in Plk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Plk1 APN 7 121,768,148 (GRCm39) missense probably damaging 0.96
IGL02895:Plk1 APN 7 121,768,389 (GRCm39) missense possibly damaging 0.91
IGL03143:Plk1 APN 7 121,760,877 (GRCm39) intron probably benign
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
Predicted Primers PCR Primer
(F):5'- GGTAGGTGTCCCAGAATGTGGAATG -3'
(R):5'- ACCTGGAAGAAGTTAATCTGCACGG -3'

Sequencing Primer
(F):5'- ggcgtgggaagaattaaaattcag -3'
(R):5'- CGGAACCACGTTCGTAGGTAG -3'
Posted On 2013-08-06