Incidental Mutation 'R8047:Plk4'
ID 618800
Institutional Source Beutler Lab
Gene Symbol Plk4
Ensembl Gene ENSMUSG00000025758
Gene Name polo like kinase 4
Synonyms Stk18, Sak
MMRRC Submission 067484-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8047 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 40754463-40771318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40760187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 361 (I361T)
Ref Sequence ENSEMBL: ENSMUSP00000026858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026858] [ENSMUST00000167556] [ENSMUST00000203295] [ENSMUST00000203895] [ENSMUST00000204473]
AlphaFold Q64702
PDB Structure Murine Sak Polo Domain [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000026858
AA Change: I361T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: I361T

DomainStartEndE-ValueType
S_TKc 12 265 3.46e-100 SMART
low complexity region 288 312 N/A INTRINSIC
low complexity region 329 341 N/A INTRINSIC
PDB:4G7N|B 554 774 6e-41 PDB
low complexity region 820 831 N/A INTRINSIC
Pfam:POLO_box 849 910 7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167556
AA Change: I361T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: I361T

DomainStartEndE-ValueType
S_TKc 12 265 3.46e-100 SMART
low complexity region 288 312 N/A INTRINSIC
low complexity region 329 341 N/A INTRINSIC
PDB:4G7N|B 551 771 6e-41 PDB
low complexity region 817 828 N/A INTRINSIC
Pfam:POLO_box 844 908 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203295
AA Change: I361T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: I361T

DomainStartEndE-ValueType
S_TKc 12 265 3.46e-100 SMART
low complexity region 288 312 N/A INTRINSIC
low complexity region 329 341 N/A INTRINSIC
PDB:4G7N|B 554 747 3e-32 PDB
low complexity region 793 804 N/A INTRINSIC
Pfam:POLO_box 822 883 6.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203895
SMART Domains Protein: ENSMUSP00000145455
Gene: ENSMUSG00000025758

DomainStartEndE-ValueType
STYKc 12 143 3.5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204473
SMART Domains Protein: ENSMUSP00000144693
Gene: ENSMUSG00000025758

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 13 114 4.9e-17 PFAM
Pfam:Pkinase 13 115 2.4e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to the nucleolus during G2, to centrosomes during G2/M, and to the cleavage furrow during cytokinesis. It is required for progression through mitosis, cell survival, and embryonic development. The mouse genome contains a pseudogene similar to this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for disruptions of this gene die before birth. Development is arrested around E7.5. Mice heterozygous for an ENU-induced allele or gene trap alele exhibit male hypogonadism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 G A 8: 80,427,817 (GRCm39) T157I possibly damaging Het
Cd200l2 T C 16: 45,340,829 (GRCm39) I245V probably benign Het
Cdh22 G A 2: 165,012,687 (GRCm39) R133W probably damaging Het
Cep152 A T 2: 125,406,247 (GRCm39) N1428K probably benign Het
Clstn3 T A 6: 124,408,972 (GRCm39) D892V possibly damaging Het
Coch G A 12: 51,650,496 (GRCm39) probably null Het
D6Ertd527e G T 6: 87,088,454 (GRCm39) V206F unknown Het
Dnaaf9 A T 2: 130,617,019 (GRCm39) V439E probably damaging Het
Dock3 T C 9: 106,870,208 (GRCm39) I625M possibly damaging Het
Dpy19l4 A G 4: 11,317,139 (GRCm39) S20P probably benign Het
Eef1e1 T C 13: 38,830,222 (GRCm39) Q150R probably damaging Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Engase T C 11: 118,377,282 (GRCm39) S526P probably benign Het
Fbxo40 T A 16: 36,790,231 (GRCm39) D293V probably damaging Het
Gipc3 T A 10: 81,177,132 (GRCm39) N146I probably damaging Het
Gm11569 T C 11: 99,689,616 (GRCm39) T28A unknown Het
Gm43302 T C 5: 105,422,623 (GRCm39) I470V possibly damaging Het
Gpihbp1 A G 15: 75,469,627 (GRCm39) Q114R possibly damaging Het
Grhl2 T A 15: 37,336,465 (GRCm39) M454K probably benign Het
Gsap A T 5: 21,462,866 (GRCm39) probably null Het
Ighv6-5 T C 12: 114,380,191 (GRCm39) probably null Het
Kif1b C A 4: 149,299,379 (GRCm39) V1010L probably damaging Het
Krt8 A T 15: 101,912,406 (GRCm39) I90N probably damaging Het
Lrrc69 A T 4: 14,773,726 (GRCm39) I110N probably benign Het
Lta T C 17: 35,423,011 (GRCm39) Y104C probably damaging Het
Madd A G 2: 91,009,546 (GRCm39) Y13H probably damaging Het
Mccc2 C T 13: 100,091,181 (GRCm39) V439I probably benign Het
Mecom T A 3: 30,292,404 (GRCm39) D35V Het
Msra C T 14: 64,522,612 (GRCm39) A76T probably damaging Het
Myo18b G T 5: 112,871,681 (GRCm39) D2133E possibly damaging Het
Ncapd2 C T 6: 125,166,762 (GRCm39) V31M probably damaging Het
Npc1 A G 18: 12,346,374 (GRCm39) V274A probably benign Het
Or5m11b T C 2: 85,806,271 (GRCm39) I228T possibly damaging Het
Patz1 C T 11: 3,256,283 (GRCm39) P523L probably benign Het
Pbx2 T C 17: 34,814,262 (GRCm39) S350P probably benign Het
Ppat G T 5: 77,073,557 (GRCm39) N122K probably damaging Het
Prss23 T A 7: 89,159,136 (GRCm39) Q311L probably damaging Het
Psg26 G T 7: 18,212,474 (GRCm39) Q294K possibly damaging Het
Rab3il1 G T 19: 10,011,166 (GRCm39) R285L probably benign Het
Radil A G 5: 142,480,695 (GRCm39) C587R probably damaging Het
Rd3 A T 1: 191,709,620 (GRCm39) probably benign Het
Reck T C 4: 43,927,221 (GRCm39) L504P probably damaging Het
Rmc1 C T 18: 12,313,586 (GRCm39) T233M possibly damaging Het
Selenov A C 7: 27,990,108 (GRCm39) L132R probably benign Het
Spag16 A T 1: 69,882,155 (GRCm39) D49V probably damaging Het
Ston2 C T 12: 91,608,617 (GRCm39) V828I probably damaging Het
Tiam1 A G 16: 89,694,672 (GRCm39) S262P probably benign Het
Tlnrd1 A T 7: 83,532,069 (GRCm39) S121T probably damaging Het
Unc13c T A 9: 73,719,636 (GRCm39) K1011* probably null Het
Vmn2r89 T A 14: 51,692,549 (GRCm39) D117E probably benign Het
Zbtb7c A C 18: 76,270,221 (GRCm39) N103T probably damaging Het
Zfp764 T C 7: 127,005,412 (GRCm39) E75G probably damaging Het
Other mutations in Plk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Plk4 APN 3 40,756,224 (GRCm39) missense probably damaging 1.00
IGL01730:Plk4 APN 3 40,760,285 (GRCm39) missense probably benign 0.00
IGL01906:Plk4 APN 3 40,764,816 (GRCm39) missense probably null 0.01
IGL02021:Plk4 APN 3 40,765,143 (GRCm39) missense probably damaging 0.97
IGL02718:Plk4 APN 3 40,769,456 (GRCm39) missense probably damaging 1.00
IGL03287:Plk4 APN 3 40,759,553 (GRCm39) missense probably benign 0.11
R0058:Plk4 UTSW 3 40,760,307 (GRCm39) missense probably benign
R0058:Plk4 UTSW 3 40,760,307 (GRCm39) missense probably benign
R0312:Plk4 UTSW 3 40,767,982 (GRCm39) missense probably damaging 0.97
R0387:Plk4 UTSW 3 40,767,319 (GRCm39) splice site probably benign
R0411:Plk4 UTSW 3 40,765,654 (GRCm39) unclassified probably benign
R0480:Plk4 UTSW 3 40,760,075 (GRCm39) missense probably benign 0.15
R1170:Plk4 UTSW 3 40,756,282 (GRCm39) missense probably damaging 1.00
R1268:Plk4 UTSW 3 40,765,804 (GRCm39) missense probably damaging 1.00
R1529:Plk4 UTSW 3 40,760,971 (GRCm39) missense probably benign 0.09
R1987:Plk4 UTSW 3 40,760,252 (GRCm39) missense possibly damaging 0.60
R1988:Plk4 UTSW 3 40,760,252 (GRCm39) missense possibly damaging 0.60
R2050:Plk4 UTSW 3 40,764,815 (GRCm39) missense probably benign
R4409:Plk4 UTSW 3 40,760,984 (GRCm39) missense probably damaging 0.98
R4727:Plk4 UTSW 3 40,759,589 (GRCm39) missense probably benign 0.00
R4765:Plk4 UTSW 3 40,756,457 (GRCm39) missense probably damaging 1.00
R4772:Plk4 UTSW 3 40,759,625 (GRCm39) missense probably damaging 1.00
R5022:Plk4 UTSW 3 40,756,512 (GRCm39) splice site probably null
R5363:Plk4 UTSW 3 40,756,419 (GRCm39) missense possibly damaging 0.71
R5651:Plk4 UTSW 3 40,767,940 (GRCm39) missense probably benign 0.00
R5665:Plk4 UTSW 3 40,768,021 (GRCm39) missense possibly damaging 0.79
R5724:Plk4 UTSW 3 40,755,481 (GRCm39) missense probably damaging 1.00
R6391:Plk4 UTSW 3 40,763,408 (GRCm39) missense probably benign 0.05
R6694:Plk4 UTSW 3 40,756,263 (GRCm39) missense probably damaging 1.00
R7412:Plk4 UTSW 3 40,766,613 (GRCm39) missense probably benign
R8165:Plk4 UTSW 3 40,768,009 (GRCm39) missense probably damaging 0.99
R8399:Plk4 UTSW 3 40,763,265 (GRCm39) nonsense probably null
R8411:Plk4 UTSW 3 40,767,901 (GRCm39) missense probably benign
R8724:Plk4 UTSW 3 40,768,022 (GRCm39) missense probably damaging 0.97
R9222:Plk4 UTSW 3 40,760,990 (GRCm39) missense possibly damaging 0.94
R9294:Plk4 UTSW 3 40,766,326 (GRCm39) missense probably damaging 1.00
R9573:Plk4 UTSW 3 40,763,257 (GRCm39) missense probably benign 0.00
R9794:Plk4 UTSW 3 40,759,535 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTGGGCATGCTACACTTTCC -3'
(R):5'- TACCTGTGTTGATTTTCATCCAGTG -3'

Sequencing Primer
(F):5'- TACCAGTTTGAGTGGCAGCCTAC -3'
(R):5'- CCAGTGATCTTCTAGGCTTTGAAAG -3'
Posted On 2020-01-23