Incidental Mutation 'IGL01906:Plk4'
ID 179665
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 # IGL01906
Quality Score
Status
Chromosome 3
Chromosomal Location 40754463-40771318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 40764816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 603 (M603I)
Ref Sequence ENSEMBL: ENSMUSP00000126945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026858] [ENSMUST00000167556] [ENSMUST00000203295] [ENSMUST00000203895] [ENSMUST00000204032]
AlphaFold Q64702
Predicted Effect probably null
Transcript: ENSMUST00000026858
AA Change: M606I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: M606I

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 null
Transcript: ENSMUST00000167556
AA Change: M603I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: M603I

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
SMART Domains Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758

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 benign
Transcript: ENSMUST00000203895
SMART Domains Protein: ENSMUSP00000145455
Gene: ENSMUSG00000025758

DomainStartEndE-ValueType
STYKc 12 143 3.5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204032
SMART Domains Protein: ENSMUSP00000145201
Gene: ENSMUSG00000025758

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
Pfam:POLO_box 81 142 2.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204594
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,166,225 (GRCm39) Q24L probably damaging Het
Adam1b A T 5: 121,639,538 (GRCm39) N502K probably benign Het
Adam6a T A 12: 113,507,951 (GRCm39) M108K probably benign Het
Akr1b10 A G 6: 34,364,746 (GRCm39) K69R probably benign Het
Ap5b1 T A 19: 5,621,007 (GRCm39) L809* probably null Het
Asxl3 A T 18: 22,655,338 (GRCm39) H1116L probably benign Het
Birc6 A G 17: 74,945,353 (GRCm39) T2794A probably damaging Het
Bst1 T C 5: 43,994,861 (GRCm39) F248L probably damaging Het
Cep120 A T 18: 53,847,984 (GRCm39) V625E probably benign Het
Cgnl1 T C 9: 71,631,849 (GRCm39) M501V probably benign Het
Col19a1 T A 1: 24,356,510 (GRCm39) D661V probably damaging Het
Copb2 A T 9: 98,462,383 (GRCm39) E456V probably benign Het
Csk A G 9: 57,536,304 (GRCm39) I201T probably damaging Het
Cttnbp2 G T 6: 18,378,375 (GRCm39) S977* probably null Het
Ddr2 A G 1: 169,809,668 (GRCm39) W770R probably damaging Het
Dnah7b T C 1: 46,214,613 (GRCm39) I1126T probably damaging Het
Ephb4 A T 5: 137,359,456 (GRCm39) E342V probably damaging Het
Erc2 T A 14: 27,863,263 (GRCm39) L496Q probably damaging Het
Faim2 G A 15: 99,412,314 (GRCm39) T140I probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Haus3 A C 5: 34,325,667 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,543,638 (GRCm39) T2846A probably benign Het
Mto1 T C 9: 78,372,213 (GRCm39) V561A probably benign Het
Myb T C 10: 21,028,533 (GRCm39) Y110C probably damaging Het
Or4k36 T C 2: 111,146,246 (GRCm39) C141R probably damaging Het
Plcd3 T C 11: 102,967,682 (GRCm39) Y420C probably damaging Het
Scgb1b24 T C 7: 33,443,538 (GRCm39) C66R probably damaging Het
Sec23a T C 12: 59,053,830 (GRCm39) Y56C probably damaging Het
Setd1b C A 5: 123,295,730 (GRCm39) D1099E unknown Het
Sh2d7 G A 9: 54,446,750 (GRCm39) probably benign Het
Slc30a10 A T 1: 185,188,593 (GRCm39) K221* probably null Het
Slc5a1 T C 5: 33,311,997 (GRCm39) L463P probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Strc T C 2: 121,208,115 (GRCm39) T419A probably benign Het
Styxl2 A C 1: 165,927,092 (GRCm39) L840R probably damaging Het
Ttc39a T C 4: 109,278,591 (GRCm39) M82T probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps13b T C 15: 35,639,993 (GRCm39) probably benign 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
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 2014-05-07