Incidental Mutation 'IGL00981:Wee1'
ID27949
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 #IGL00981
Quality Score
Status
Chromosome7
Chromosomal Location110122046-110143286 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 110139669 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 582 (E582D)
Ref Sequence ENSEMBL: ENSMUSP00000033326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033326]
Predicted Effect probably damaging
Transcript: ENSMUST00000033326
AA Change: E582D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033326
Gene: ENSMUSG00000031016
AA Change: E582D

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A T 14: 49,772,990 L420Q probably damaging Het
4930503L19Rik G A 18: 70,453,333 Q478* probably null Het
Atp7b T C 8: 22,027,527 probably null Het
Bcan T A 3: 87,997,832 I2F possibly damaging Het
Boc A G 16: 44,491,801 S633P probably damaging Het
C2cd6 A G 1: 59,077,945 S130P probably damaging Het
Cacna1a T C 8: 84,548,553 F490L probably damaging Het
Carm1 T A 9: 21,587,194 D469E possibly damaging Het
Cdyl A T 13: 35,816,113 S126C probably damaging Het
Ceacam5 A T 7: 17,745,533 I192F probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dlgap5 C T 14: 47,398,468 E515K probably damaging Het
Eif3a A T 19: 60,766,611 D1044E unknown Het
Eif3i T A 4: 129,595,069 Y125F probably benign Het
Gnai1 T G 5: 18,267,047 N346T probably benign Het
Kcnd1 C T X: 7,836,433 T629I probably benign Het
Mcc A T 18: 44,449,349 N578K probably damaging Het
Ncoa6 C T 2: 155,406,179 R1735Q probably damaging Het
Nlrp4d A T 7: 10,382,094 noncoding transcript Het
Nsun5 A T 5: 135,375,395 Q352L possibly damaging Het
Olfr127 G A 17: 37,904,181 V212M probably benign Het
Olfr1537 A G 9: 39,237,605 V276A probably benign Het
Olfr715b C A 7: 107,106,061 E267* probably null Het
Olfr715b T A 7: 107,106,062 K266N probably benign Het
Pkdrej C T 15: 85,819,656 G693D probably damaging Het
Rpl10a-ps2 A T 13: 8,940,530 probably benign Het
Spink1 C T 18: 43,737,094 probably null Het
Sqle T C 15: 59,326,619 V464A probably damaging Het
Trav6-4 A T 14: 53,454,696 T84S probably damaging Het
Trim33 T A 3: 103,351,995 probably benign Het
Txlng T C X: 162,784,372 M319V probably benign Het
Other mutations in Wee1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Wee1 APN 7 110134853 splice site probably null
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
IGL03383:Wee1 APN 7 110139692 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
Posted On2013-04-17