Incidental Mutation 'IGL03383:Wee1'
ID420767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wee1
Ensembl Gene ENSMUSG00000031016
Gene NameWEE 1 homolog 1 (S. pombe)
SynonymsWee1A
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03383
Quality Score
Status
Chromosome7
Chromosomal Location110122046-110143286 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110139692 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 590 (N590S)
Ref Sequence ENSEMBL: ENSMUSP00000033326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033326]
Predicted Effect probably damaging
Transcript: ENSMUST00000033326
AA Change: N590S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033326
Gene: ENSMUSG00000031016
AA Change: N590S

DomainStartEndE-ValueType
low complexity region 62 112 N/A INTRINSIC
Pfam:Pkinase_Tyr 298 566 1.9e-26 PFAM
Pfam:Pkinase 298 568 1.7e-61 PFAM
low complexity region 620 631 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185931
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E7. Mice homozygous for a knock-out allele exhibit lethality between E3.5 and E7.5 with reduced proliferation, increased apoptosis and abnormal G2/M checkpoint function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,657,423 probably benign Het
Cit T C 5: 115,873,845 probably benign Het
Clmp A G 9: 40,774,441 N211S probably damaging Het
Cnot2 A G 10: 116,494,817 probably benign Het
Cntn6 A G 6: 104,776,457 probably benign Het
Dnajb9 C T 12: 44,208,313 probably benign Het
Ece2 T A 16: 20,633,097 N411K possibly damaging Het
Fam208a A G 14: 27,441,961 I235V possibly damaging Het
Fshr A G 17: 89,046,699 I77T possibly damaging Het
Fshr A G 17: 88,985,693 M519T probably damaging Het
Gm10654 G A 8: 70,932,131 noncoding transcript Het
Gm5093 A G 17: 46,439,591 I170T probably benign Het
Meis3 A G 7: 16,183,819 K299R probably damaging Het
Nxf1 T C 19: 8,763,697 F15L probably damaging Het
Nxpe3 T C 16: 55,849,713 D343G probably benign Het
Olfr1246 A T 2: 89,590,312 Y268N probably benign Het
Polr3k A G 2: 181,866,027 T65A probably damaging Het
Preb A T 5: 30,958,321 W222R probably damaging Het
Psmd11 T C 11: 80,469,845 I56T probably damaging Het
Rtkn2 A G 10: 68,017,837 T232A probably damaging Het
Scaf11 T C 15: 96,420,183 probably null Het
Slc4a10 A T 2: 62,267,436 K493M probably damaging Het
Stard10 A G 7: 101,342,570 K112E probably damaging Het
Sugp1 A T 8: 70,069,567 probably benign Het
Tmem156 T C 5: 65,075,697 E139G probably damaging Het
Tubd1 C T 11: 86,549,008 probably benign Het
Uap1 G A 1: 170,158,891 T174M probably damaging Het
Vmn2r13 T C 5: 109,156,532 T678A probably damaging Het
Vmn2r84 A T 10: 130,386,687 C555S probably damaging Het
Vps13d T C 4: 145,168,319 probably null Het
Vps8 T C 16: 21,435,823 probably null Het
Zfp112 C A 7: 24,125,678 S357Y probably damaging Het
Zfp423 T A 8: 87,859,452 K48* probably null Het
Zscan4d A G 7: 11,162,765 V226A probably benign Het
Other mutations in Wee1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Wee1 APN 7 110134853 splice site probably null
IGL00981:Wee1 APN 7 110139669 missense probably damaging 1.00
IGL01017:Wee1 APN 7 110125848 missense possibly damaging 0.93
IGL01357:Wee1 APN 7 110142035 missense probably benign 0.39
IGL01838:Wee1 APN 7 110124537 missense probably benign 0.01
IGL01970:Wee1 APN 7 110139250 missense probably damaging 1.00
IGL02396:Wee1 APN 7 110142093 missense probably damaging 1.00
IGL02511:Wee1 APN 7 110139276 missense possibly damaging 0.55
IGL02884:Wee1 APN 7 110126062 missense probably benign 0.02
IGL03085:Wee1 APN 7 110124598 missense probably damaging 1.00
IGL03221:Wee1 APN 7 110126817 missense probably damaging 1.00
R0220:Wee1 UTSW 7 110124526 missense probably benign 0.10
R1934:Wee1 UTSW 7 110122491 missense probably benign 0.06
R3110:Wee1 UTSW 7 110130836 missense probably damaging 1.00
R3112:Wee1 UTSW 7 110130836 missense probably damaging 1.00
R3978:Wee1 UTSW 7 110124555 missense probably damaging 1.00
R4348:Wee1 UTSW 7 110130958 missense probably damaging 1.00
R5434:Wee1 UTSW 7 110124569 frame shift probably null
R5435:Wee1 UTSW 7 110124569 frame shift probably null
R5436:Wee1 UTSW 7 110124569 frame shift probably null
R5449:Wee1 UTSW 7 110124569 frame shift probably null
R5566:Wee1 UTSW 7 110126050 nonsense probably null
R5630:Wee1 UTSW 7 110124569 frame shift probably null
R5632:Wee1 UTSW 7 110124569 frame shift probably null
R5685:Wee1 UTSW 7 110124569 frame shift probably null
R5694:Wee1 UTSW 7 110124569 frame shift probably null
R5807:Wee1 UTSW 7 110124569 frame shift probably null
R5941:Wee1 UTSW 7 110124569 frame shift probably null
R6044:Wee1 UTSW 7 110139306 missense probably benign 0.00
R6163:Wee1 UTSW 7 110135651 missense probably damaging 1.00
R6826:Wee1 UTSW 7 110124663 critical splice donor site probably null
R7203:Wee1 UTSW 7 110134794 missense probably benign 0.00
R7835:Wee1 UTSW 7 110130878 nonsense probably null
R8273:Wee1 UTSW 7 110124484 missense probably benign 0.00
Posted On2016-08-02