Incidental Mutation 'R4887:Plk1'
ID 376978
Institutional Source Beutler Lab
Gene Symbol Plk1
Ensembl Gene ENSMUSG00000030867
Gene Name polo like kinase 1
Synonyms Plk, STPK13
MMRRC Submission 041979-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4887 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 122159439-122169873 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122168605 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 411 (V411A)
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

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: V411A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867
AA Change: V411A

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A T 17: 56,876,324 (GRCm38) I22F possibly damaging Het
2310009B15Rik A C 1: 138,852,165 (GRCm38) Y116* probably null Het
4930548H24Rik A G 5: 31,486,252 (GRCm38) I109V probably benign Het
Acer3 T C 7: 98,257,701 (GRCm38) T91A possibly damaging Het
Adam12 T C 7: 134,172,821 (GRCm38) K20E possibly damaging Het
Adamtsl3 T C 7: 82,574,614 (GRCm38) V275A possibly damaging Het
Afg1l C T 10: 42,454,378 (GRCm38) V98I probably benign Het
Alpk1 C T 3: 127,673,475 (GRCm38) G1052R probably damaging Het
Anln A T 9: 22,380,188 (GRCm38) S115T possibly damaging Het
Apob T A 12: 8,013,099 (GRCm38) N3827K probably damaging Het
Aqr G A 2: 114,150,509 (GRCm38) L264F probably damaging Het
Arhgap33 T C 7: 30,532,192 (GRCm38) S123G probably damaging Het
Arvcf C T 16: 18,398,113 (GRCm38) R333* probably null Het
Brca2 T A 5: 150,556,937 (GRCm38) L2724Q probably damaging Het
Btbd11 C T 10: 85,387,378 (GRCm38) T17M unknown Het
C2cd6 T A 1: 59,094,734 (GRCm38) T43S probably benign Het
Cacna1h A G 17: 25,377,287 (GRCm38) V1920A possibly damaging Het
Capsl A T 15: 9,457,772 (GRCm38) I26F possibly damaging Het
Card10 A T 15: 78,781,524 (GRCm38) V673E possibly damaging Het
Ccar1 A G 10: 62,753,218 (GRCm38) S829P unknown Het
Cdc42bpa T C 1: 180,144,635 (GRCm38) M1334T possibly damaging Het
Ceacam2 C T 7: 25,520,832 (GRCm38) C267Y probably benign Het
Cep68 G A 11: 20,239,239 (GRCm38) T591M probably benign Het
Chil4 T C 3: 106,204,144 (GRCm38) K218R probably benign Het
Cldn14 G T 16: 93,919,859 (GRCm38) T33K possibly damaging Het
Copa T A 1: 172,092,276 (GRCm38) C140S probably benign Het
Coq6 T C 12: 84,372,296 (GRCm38) L358P probably damaging Het
Cyfip1 C T 7: 55,872,068 (GRCm38) P40L probably damaging Het
Dennd2a A C 6: 39,497,159 (GRCm38) S414A probably benign Het
Dpm1 T C 2: 168,217,759 (GRCm38) N139S probably benign Het
Dpp7 T A 2: 25,352,758 (GRCm38) probably null Het
Ednrb T C 14: 103,820,011 (GRCm38) I372V possibly damaging Het
Edrf1 G T 7: 133,658,610 (GRCm38) M83I probably damaging Het
Fam135a G A 1: 24,024,253 (GRCm38) Q1087* probably null Het
Fancg T C 4: 43,006,866 (GRCm38) T275A probably benign Het
Fbn1 T A 2: 125,309,774 (GRCm38) H2520L probably damaging Het
Fmn2 T C 1: 174,581,961 (GRCm38) S587P unknown Het
Foxr2 A G X: 153,130,316 (GRCm38) Q61R probably damaging Het
Frrs1 A G 3: 116,902,416 (GRCm38) *124W probably null Het
Gm16432 A G 1: 178,103,949 (GRCm38) Y478C unknown Het
Gm7535 T A 17: 17,911,071 (GRCm38) probably benign Het
Gm884 T C 11: 103,614,872 (GRCm38) H2090R probably benign Het
Gm996 G A 2: 25,579,747 (GRCm38) R51C possibly damaging Het
Herc3 T C 6: 58,887,499 (GRCm38) V706A probably damaging Het
Hist1h4a T C 13: 23,760,952 (GRCm38) D69G probably damaging Het
Hivep3 A G 4: 120,122,934 (GRCm38) E1723G probably damaging Het
Igsf9b A G 9: 27,322,650 (GRCm38) I382V probably benign Het
Ints1 G T 5: 139,771,156 (GRCm38) T467N possibly damaging Het
Iqca G A 1: 90,045,701 (GRCm38) T783M probably damaging Het
Kng1 A G 16: 23,067,698 (GRCm38) K131R possibly damaging Het
Krt35 T C 11: 100,093,130 (GRCm38) Y348C probably damaging Het
Ldlrad3 A G 2: 102,113,536 (GRCm38) C64R probably damaging Het
Lilr4b C T 10: 51,484,520 (GRCm38) A272V possibly damaging Het
Ltn1 A T 16: 87,398,809 (GRCm38) C1276* probably null Het
Matn1 G A 4: 130,952,114 (GRCm38) A360T probably benign Het
Minpp1 G A 19: 32,498,384 (GRCm38) V306I probably benign Het
Mkx G A 18: 6,992,904 (GRCm38) R127W probably damaging Het
Mrpl48 G T 7: 100,546,409 (GRCm38) probably benign Het
Ms4a2 A G 19: 11,618,429 (GRCm38) L166S possibly damaging Het
Mtus2 T A 5: 148,077,103 (GRCm38) Y235* probably null Het
Myh4 G T 11: 67,241,054 (GRCm38) W113C probably damaging Het
Nav2 T A 7: 49,548,434 (GRCm38) C1270* probably null Het
Ncoa5 A G 2: 165,002,150 (GRCm38) L111P probably damaging Het
Nup107 T C 10: 117,770,478 (GRCm38) Y453C probably damaging Het
Oca2 C T 7: 56,330,358 (GRCm38) Q604* probably null Het
Olfr116 A T 17: 37,623,891 (GRCm38) V248D probably damaging Het
Olfr1339 A C 4: 118,734,688 (GRCm38) H53P probably benign Het
Olfr482 T A 7: 108,095,096 (GRCm38) N158I probably benign Het
Olfr525 T C 7: 140,323,101 (GRCm38) M134T probably benign Het
Olfr952 T C 9: 39,426,235 (GRCm38) T279A possibly damaging Het
Pde3a G T 6: 141,470,942 (GRCm38) G514V possibly damaging Het
Pik3cb A T 9: 99,101,328 (GRCm38) C76S probably damaging Het
Pole C T 5: 110,324,753 (GRCm38) P1600L probably damaging Het
Prr36 T C 8: 4,210,881 (GRCm38) T979A probably benign Het
Rdh7 T A 10: 127,885,721 (GRCm38) T229S probably benign Het
Rnpepl1 A T 1: 92,915,113 (GRCm38) T140S probably damaging Het
Rps6kc1 A T 1: 190,798,694 (GRCm38) S947T probably benign Het
Rtl1 A G 12: 109,591,704 (GRCm38) F1234L probably damaging Het
Sdc1 G A 12: 8,791,708 (GRCm38) M279I probably damaging Het
Siae T C 9: 37,627,800 (GRCm38) L169P possibly damaging Het
Slc22a22 C T 15: 57,249,752 (GRCm38) V364I probably benign Het
Sltm G T 9: 70,588,978 (GRCm38) V932F probably damaging Het
Smad1 A G 8: 79,349,752 (GRCm38) L279P probably damaging Het
Spag17 G T 3: 100,050,831 (GRCm38) G935V probably damaging Het
Srgap3 A G 6: 112,746,934 (GRCm38) S546P probably damaging Het
Stxbp5 T C 10: 9,809,100 (GRCm38) I519V probably benign Het
Syt16 A T 12: 74,129,386 (GRCm38) I10F probably damaging Het
Trim43b C G 9: 89,091,312 (GRCm38) G123R probably damaging Het
Ubr3 T C 2: 70,013,131 (GRCm38) Y1572H probably damaging Het
Umodl1 G A 17: 31,008,665 (GRCm38) R1324H probably benign Het
Vmn2r44 A T 7: 8,377,986 (GRCm38) W303R probably benign Het
Wdr93 T C 7: 79,785,774 (GRCm38) Y684H probably damaging Het
Wnk2 G A 13: 49,071,002 (GRCm38) R268C probably damaging Het
Zfp438 C T 18: 5,213,776 (GRCm38) C394Y possibly damaging Het
Other mutations in Plk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Plk1 APN 7 122,168,925 (GRCm38) missense probably damaging 0.96
IGL02895:Plk1 APN 7 122,169,166 (GRCm38) missense possibly damaging 0.91
IGL03143:Plk1 APN 7 122,161,654 (GRCm38) intron probably benign
R0018:Plk1 UTSW 7 122,168,985 (GRCm38) critical splice donor site probably null
R1365:Plk1 UTSW 7 122,168,629 (GRCm38) missense probably damaging 1.00
R1710:Plk1 UTSW 7 122,168,898 (GRCm38) missense probably damaging 1.00
R2016:Plk1 UTSW 7 122,162,440 (GRCm38) missense probably damaging 1.00
R2248:Plk1 UTSW 7 122,168,821 (GRCm38) unclassified probably benign
R2327:Plk1 UTSW 7 122,159,895 (GRCm38) missense probably benign
R6246:Plk1 UTSW 7 122,169,436 (GRCm38) missense probably damaging 1.00
R7698:Plk1 UTSW 7 122,169,258 (GRCm38) missense probably damaging 1.00
R9319:Plk1 UTSW 7 122,168,899 (GRCm38) missense probably damaging 0.97
Z1176:Plk1 UTSW 7 122,167,650 (GRCm38) missense not run
Z1177:Plk1 UTSW 7 122,167,650 (GRCm38) missense not run
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-17