Incidental Mutation 'IGL02895:Plk1'
ID363383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plk1
Ensembl Gene ENSMUSG00000030867
Gene Namepolo like kinase 1
SynonymsPlk, STPK13
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02895
Quality Score
Status
Chromosome7
Chromosomal Location122159439-122169873 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122169166 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 504 (E504G)
Ref Sequence ENSEMBL: ENSMUSP00000033154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033153] [ENSMUST00000033154] [ENSMUST00000206198]
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 possibly damaging
Transcript: ENSMUST00000033154
AA Change: E504G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867
AA Change: E504G

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
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,232,107 probably benign Het
Ahctf1 C T 1: 179,793,811 E130K probably damaging Het
Atf7ip C A 6: 136,560,688 S306R probably damaging Het
Cpd A G 11: 76,785,203 V1208A probably benign Het
Ctsl C T 13: 64,366,512 A195T probably damaging Het
Dennd2c T C 3: 103,137,203 Y367H possibly damaging Het
Endod1 T A 9: 14,356,870 T440S probably benign Het
Gm12695 T C 4: 96,723,949 R526G probably damaging Het
Ighv1-39 T C 12: 114,914,682 T90A probably damaging Het
Kdm2a G A 19: 4,362,902 R19C probably damaging Het
Klra1 C T 6: 130,375,240 E180K possibly damaging Het
Odam A G 5: 87,885,864 Q21R probably benign Het
Olfr1205 A G 2: 88,831,642 Y175C probably damaging Het
Olfr145 G A 9: 37,897,982 V193I probably benign Het
Rtl3 T C X: 106,839,544 I37M possibly damaging Het
Srebf2 A G 15: 82,147,467 E22G possibly damaging Het
Tmem74b A G 2: 151,706,391 S13G probably benign Het
Utp14b T C 1: 78,664,607 V74A possibly damaging Het
Znrf3 T C 11: 5,289,085 M93V probably damaging Het
Other mutations in Plk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Plk1 APN 7 122168925 missense probably damaging 0.96
IGL03143:Plk1 APN 7 122161654 intron probably benign
R0018:Plk1 UTSW 7 122168985 critical splice donor site probably null
R1365:Plk1 UTSW 7 122168629 missense probably damaging 1.00
R1710:Plk1 UTSW 7 122168898 missense probably damaging 1.00
R2016:Plk1 UTSW 7 122162440 missense probably damaging 1.00
R2248:Plk1 UTSW 7 122168821 unclassified probably benign
R2327:Plk1 UTSW 7 122159895 missense probably benign
R4887:Plk1 UTSW 7 122168605 missense probably damaging 1.00
R6246:Plk1 UTSW 7 122169436 missense probably damaging 1.00
R7698:Plk1 UTSW 7 122169258 missense probably damaging 1.00
Z1176:Plk1 UTSW 7 122167650 missense not run
Z1177:Plk1 UTSW 7 122167650 missense not run
Posted On2015-12-18