Incidental Mutation 'IGL00719:Plk4'
ID 13057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plk4
Ensembl Gene ENSMUSG00000025758
Gene Name polo like kinase 4
Synonyms Stk18, Sak
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00719
Quality Score
Status
Chromosome 3
Chromosomal Location 40754463-40771318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40756224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 45 (D45V)
Ref Sequence ENSEMBL: ENSMUSP00000144693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026858] [ENSMUST00000167556] [ENSMUST00000203295] [ENSMUST00000203895] [ENSMUST00000204473]
AlphaFold Q64702
Predicted Effect probably damaging
Transcript: ENSMUST00000026858
AA Change: D44V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: D44V

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 damaging
Transcript: ENSMUST00000167556
AA Change: D44V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: D44V

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 damaging
Transcript: ENSMUST00000203295
AA Change: D44V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: D44V

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 noncoding transcript
Transcript: ENSMUST00000203320
Predicted Effect probably damaging
Transcript: ENSMUST00000203895
AA Change: D44V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145455
Gene: ENSMUSG00000025758
AA Change: D44V

DomainStartEndE-ValueType
STYKc 12 143 3.5e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204289
Predicted Effect probably damaging
Transcript: ENSMUST00000204473
AA Change: D45V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144693
Gene: ENSMUSG00000025758
AA Change: D45V

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 13 114 4.9e-17 PFAM
Pfam:Pkinase 13 115 2.4e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205046
Coding Region Coverage
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Allc C T 12: 28,614,248 (GRCm39) E142K probably benign Het
Cln5 C T 14: 103,313,468 (GRCm39) T240M possibly damaging Het
Ddx42 T C 11: 106,126,575 (GRCm39) V330A probably damaging Het
Egr1 G A 18: 34,995,547 (GRCm39) E110K possibly damaging Het
Fbxw7 A G 3: 84,876,616 (GRCm39) probably benign Het
Ftsj3 T C 11: 106,141,005 (GRCm39) D674G probably damaging Het
Mboat2 T A 12: 24,989,353 (GRCm39) probably benign Het
Mga T A 2: 119,777,934 (GRCm39) Y1826* probably null Het
Mipol1 T A 12: 57,354,139 (GRCm39) probably benign Het
Pds5b C A 5: 150,646,007 (GRCm39) T155N probably benign Het
Rnf24 C T 2: 131,147,613 (GRCm39) V63I possibly damaging Het
Serpinb6b A T 13: 33,155,529 (GRCm39) T81S probably benign Het
Sesn1 C T 10: 41,774,321 (GRCm39) T291I probably damaging Het
Tenm3 T C 8: 48,732,077 (GRCm39) T1276A probably benign Het
Tmbim7 T A 5: 3,729,087 (GRCm39) I279N probably damaging Het
Zfp40 T C 17: 23,394,716 (GRCm39) T556A probably benign Het
Other mutations in Plk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8047:Plk4 UTSW 3 40,760,187 (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
Posted On 2012-12-06