Incidental Mutation 'IGL01730:Plk4'
ID 105448
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 # IGL01730
Quality Score
Status
Chromosome 3
Chromosomal Location 40754463-40771318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40760285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 394 (S394P)
Ref Sequence ENSEMBL: ENSMUSP00000145277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026858] [ENSMUST00000167556] [ENSMUST00000203295] [ENSMUST00000203895] [ENSMUST00000204473]
AlphaFold Q64702
Predicted Effect probably benign
Transcript: ENSMUST00000026858
AA Change: S394P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: S394P

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: S394P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: S394P

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: S394P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: S394P

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 noncoding transcript
Transcript: ENSMUST00000204289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205046
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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 36,119,583 (GRCm39) E287G probably damaging Het
Bhmt A T 13: 93,761,917 (GRCm39) V122E probably damaging Het
Camta1 A G 4: 151,147,302 (GRCm39) I585T probably damaging Het
Cfap221 A G 1: 119,861,841 (GRCm39) S645P probably benign Het
Derl1 A T 15: 57,755,543 (GRCm39) F50Y possibly damaging Het
Dhrs3 T C 4: 144,646,042 (GRCm39) S117P probably damaging Het
E2f8 A T 7: 48,527,682 (GRCm39) probably benign Het
Fbn1 A T 2: 125,154,894 (GRCm39) probably benign Het
Fbxo15 A G 18: 84,982,299 (GRCm39) I250M probably benign Het
Ghr A T 15: 3,350,066 (GRCm39) S371T probably damaging Het
Gm5884 A T 6: 128,622,669 (GRCm39) noncoding transcript Het
Grhl2 T C 15: 37,338,018 (GRCm39) V496A probably benign Het
Gsap A G 5: 21,495,152 (GRCm39) probably benign Het
Irak3 T C 10: 120,014,005 (GRCm39) D148G probably benign Het
Itga2 A T 13: 114,990,947 (GRCm39) probably benign Het
Kif13b T C 14: 64,987,810 (GRCm39) probably null Het
Kif20b A T 19: 34,927,923 (GRCm39) K1022* probably null Het
Klhl17 G T 4: 156,316,157 (GRCm39) S399* probably null Het
Lcp2 A T 11: 34,000,943 (GRCm39) D42V possibly damaging Het
Lin7c G T 2: 109,726,785 (GRCm39) G145* probably null Het
Lrba A G 3: 86,648,731 (GRCm39) D2493G possibly damaging Het
Mobp A G 9: 119,996,992 (GRCm39) D41G probably damaging Het
Mycbp2 G A 14: 103,372,640 (GRCm39) Q785* probably null Het
Myl6b T C 10: 128,332,211 (GRCm39) Y85C possibly damaging Het
Nup133 G T 8: 124,664,972 (GRCm39) H240N probably benign Het
Or5b12 A C 19: 12,896,926 (GRCm39) F249C probably damaging Het
Prepl A G 17: 85,388,603 (GRCm39) Y167H possibly damaging Het
Prkab1 A G 5: 116,159,551 (GRCm39) L105P probably damaging Het
Ryr2 T A 13: 11,616,728 (GRCm39) I3897L possibly damaging Het
Sema3c A G 5: 17,916,434 (GRCm39) S469G probably benign Het
Serpinb3c T A 1: 107,200,914 (GRCm39) S168C probably damaging Het
Snapc4 A T 2: 26,253,736 (GRCm39) probably null Het
Sorcs2 A T 5: 36,205,153 (GRCm39) M528K probably damaging Het
Spink10 T A 18: 62,784,816 (GRCm39) probably null Het
Tent5b A T 4: 133,213,833 (GRCm39) probably null Het
Thsd7a C A 6: 12,554,980 (GRCm39) Q301H probably benign Het
Tmem135 A T 7: 88,797,252 (GRCm39) F335I possibly damaging Het
Tshr A T 12: 91,486,077 (GRCm39) D217V possibly damaging Het
Ttyh1 G A 7: 4,128,720 (GRCm39) V206M possibly damaging Het
Tusc3 T G 8: 39,617,880 (GRCm39) *348G probably null Het
Vmn2r76 G A 7: 85,879,406 (GRCm39) T298I probably benign Het
Wdr47 T C 3: 108,518,712 (GRCm39) F67L probably damaging Het
Other mutations in Plk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Plk4 APN 3 40,756,224 (GRCm39) missense probably damaging 1.00
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 2014-01-21