Incidental Mutation 'IGL01017:Wee1'
ID53680
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 #IGL01017
Quality Score
Status
Chromosome7
Chromosomal Location110122046-110143286 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 110125848 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 275 (D275V)
Ref Sequence ENSEMBL: ENSMUSP00000033326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033326]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033326
AA Change: D275V

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033326
Gene: ENSMUSG00000031016
AA Change: D275V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210940
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,459,359 A29T probably damaging Het
Ankrd11 T C 8: 122,894,728 K795R probably damaging Het
Atg3 T C 16: 45,183,811 probably null Het
Ccdc169 T C 3: 55,171,318 V200A possibly damaging Het
Cdr2l C A 11: 115,392,738 Q141K probably damaging Het
Cts3 T A 13: 61,568,174 I93F probably damaging Het
Eif2ak2 A G 17: 78,863,858 L372S probably damaging Het
Elovl5 T C 9: 77,981,571 I240T possibly damaging Het
Farp1 C T 14: 121,272,774 A728V possibly damaging Het
Fbln1 A G 15: 85,244,189 D529G possibly damaging Het
Flnb G T 14: 7,917,390 probably benign Het
Gm14401 A T 2: 177,086,832 H237L probably damaging Het
Gm4951 T A 18: 60,245,436 D14E possibly damaging Het
Hivep3 T A 4: 120,099,246 H1586Q probably damaging Het
Igkv12-98 T A 6: 68,571,109 L74* probably null Het
Ktn1 T C 14: 47,708,878 S917P probably benign Het
Lama3 T C 18: 12,441,143 probably null Het
Lamb1 A G 12: 31,301,064 D723G possibly damaging Het
Lrrc39 A T 3: 116,570,851 R130S probably benign Het
Mcm3 A C 1: 20,804,815 probably null Het
Muc19 T G 15: 91,880,707 noncoding transcript Het
Necap2 A G 4: 141,067,568 F266S probably damaging Het
Nfil3 C T 13: 52,968,019 G283D probably damaging Het
Nlrp4e A T 7: 23,321,667 K526N possibly damaging Het
Olfr1178 T A 2: 88,391,901 V218E possibly damaging Het
Olfr53 A G 7: 140,652,476 T166A probably benign Het
Pelp1 G A 11: 70,396,894 R401W probably damaging Het
Phldb3 G T 7: 24,628,870 C613F probably damaging Het
Ppp1ca T C 19: 4,193,111 Y93H probably damaging Het
Ppp1r3b A G 8: 35,384,322 E105G probably benign Het
Prb1 G T 6: 132,207,231 Q480K unknown Het
Ryr1 A T 7: 29,082,543 I2007N probably damaging Het
Scgb1b27 A G 7: 34,021,803 T39A probably damaging Het
Serpinb3b T C 1: 107,154,457 D359G probably benign Het
Sgo2b G T 8: 63,926,523 R1092S probably benign Het
Sh3pxd2b C A 11: 32,403,993 S187* probably null Het
Slc11a1 T A 1: 74,379,796 L92H probably damaging Het
Smc3 T C 19: 53,629,327 V585A probably damaging Het
Sp6 A G 11: 97,022,603 probably benign Het
Spata16 A T 3: 26,840,722 I307F possibly damaging Het
Tfpi2 T A 6: 3,965,359 H33L probably benign Het
Tnxb T A 17: 34,693,808 D1642E probably damaging Het
Ttc1 T C 11: 43,730,493 N287S probably damaging Het
Ttc9 G A 12: 81,631,762 V120I possibly damaging Het
Umps A G 16: 33,966,902 V27A probably damaging Het
Usp50 C A 2: 126,709,414 M48I probably damaging Het
Vmn1r76 A T 7: 11,930,382 C267S possibly damaging Het
Zmym6 C T 4: 127,088,359 P63L 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
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 On2013-06-28