Incidental Mutation 'IGL01970:Wee1'
ID182541
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 #IGL01970
Quality Score
Status
Chromosome7
Chromosomal Location110122046-110143286 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 110139250 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 523 (H523Q)
Ref Sequence ENSEMBL: ENSMUSP00000033326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033326]
Predicted Effect probably damaging
Transcript: ENSMUST00000033326
AA Change: H523Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033326
Gene: ENSMUSG00000031016
AA Change: H523Q

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdk9 T C 2: 32,708,051 H280R possibly damaging Het
Cenpt C T 8: 105,845,116 R461H probably damaging Het
Cpa4 A G 6: 30,579,646 T151A probably benign Het
Glrb A G 3: 80,861,925 I165T possibly damaging Het
Gm17305 A T 11: 69,364,820 probably benign Het
Kdm5b T A 1: 134,600,727 S391T probably damaging Het
Klrg2 T C 6: 38,636,448 K207E probably damaging Het
Krt1 T C 15: 101,846,864 I487V possibly damaging Het
Krt27 A G 11: 99,348,721 L311P probably damaging Het
Leng9 T C 7: 4,148,327 Y450C probably damaging Het
Oacyl A T 18: 65,749,714 I627F possibly damaging Het
Perm1 G T 4: 156,217,661 G221W probably damaging Het
Rft1 C T 14: 30,690,535 L518F probably benign Het
Sdk1 A T 5: 142,085,682 Q1209L possibly damaging Het
Selenbp1 A G 3: 94,937,002 S57G probably benign Het
Sema5a T C 15: 32,686,646 M968T probably benign Het
Slc16a3 G A 11: 120,957,038 V351M probably damaging Het
Sorbs2 G A 8: 45,745,803 V73I probably damaging Het
Specc1l T A 10: 75,245,761 D347E probably damaging Het
Tas2r116 A C 6: 132,855,669 T78P probably benign Het
Tpm3 A G 3: 90,089,828 E224G probably damaging Het
Trnau1ap T C 4: 132,313,987 probably benign Het
Vmn2r17 T A 5: 109,427,947 M228K probably damaging Het
Vnn1 T C 10: 23,897,402 I109T probably benign Het
Xpr1 T C 1: 155,290,234 N524S 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
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 On2014-05-07