Incidental Mutation 'IGL02935:Bub1'
ID364278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bub1
Ensembl Gene ENSMUSG00000027379
Gene NameBUB1, mitotic checkpoint serine/threonine kinase
SynonymsD2Xrf87, Bub1a
Accession Numbers

Genbank: NM_009772; MGI: 1100510

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02935
Quality Score
Status
Chromosome2
Chromosomal Location127801122-127831865 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127801295 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 1043 (L1043S)
Ref Sequence ENSEMBL: ENSMUSP00000028858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028858]
Predicted Effect probably damaging
Transcript: ENSMUST00000028858
AA Change: L1043S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: L1043S

DomainStartEndE-ValueType
Mad3_BUB1_I 4 126 7.41e-46 SMART
low complexity region 216 225 N/A INTRINSIC
low complexity region 372 385 N/A INTRINSIC
Pfam:Pkinase_Tyr 762 1011 9.3e-10 PFAM
Pfam:Pkinase 762 1037 1.7e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138624
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 serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation exhibit embryonic lethality prior to implantation. Mice homozygous for a kinase dead allele exhibit aneuploidy in somatic and germ cells and reduced male fertility. [provided by MGI curators]
Allele List at MGI

All alleles(22) : Targeted, knock-out(3) Targeted, other(4) Gene trapped(15)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik G A 13: 54,561,862 P13L possibly damaging Het
A930016O22Rik A T 7: 19,420,413 probably benign Het
Ajuba A G 14: 54,570,467 F436S probably damaging Het
Bptf C A 11: 107,080,799 A961S probably damaging Het
Brca1 A G 11: 101,489,867 V1780A probably benign Het
Cngb3 T A 4: 19,425,491 M433K possibly damaging Het
Col4a1 T C 8: 11,219,166 D928G probably damaging Het
Colq G A 14: 31,535,634 P259S probably damaging Het
Csmd1 T C 8: 16,223,334 Y828C probably damaging Het
Dennd5a T C 7: 109,921,307 R448G possibly damaging Het
Dip2c A G 13: 9,662,146 D1435G probably damaging Het
Dst T A 1: 34,186,845 L1188* probably null Het
Duox1 G T 2: 122,324,519 G462C possibly damaging Het
Flcn A T 11: 59,795,236 I402N possibly damaging Het
Fuca2 G A 10: 13,507,319 E344K probably null Het
Golim4 T C 3: 75,894,992 H331R possibly damaging Het
Grid1 A T 14: 34,822,558 I29F possibly damaging Het
Hltf T A 3: 20,069,051 F201Y probably damaging Het
Ipo8 A T 6: 148,789,841 I677N probably benign Het
Meioc A G 11: 102,672,191 T72A probably benign Het
Meox2 A T 12: 37,109,105 H92L probably damaging Het
Mlec C A 5: 115,157,814 R74L probably benign Het
Mrpl58 G A 11: 115,410,228 probably benign Het
Mtch1 T C 17: 29,336,210 D288G probably benign Het
Myo16 A G 8: 10,532,990 E1090G probably benign Het
Nicn1 A G 9: 108,290,646 N39S probably benign Het
Nlrp9c A G 7: 26,385,276 S293P probably benign Het
Olfr1042 G T 2: 86,160,370 probably benign Het
Olfr1344 G A 7: 6,440,754 V285M possibly damaging Het
Olfr66 T C 7: 103,881,664 N193S probably damaging Het
Pcdh20 T A 14: 88,467,002 probably benign Het
Peg3 C A 7: 6,711,129 V365F probably damaging Het
Penk A G 4: 4,133,843 F268S probably damaging Het
Pitrm1 T A 13: 6,553,264 Y116N probably damaging Het
Prex1 C A 2: 166,570,345 G389C probably damaging Het
Ptch2 C T 4: 117,114,770 A1163V probably damaging Het
Rasgrp3 G A 17: 75,497,070 V123I probably benign Het
Slc36a2 G T 11: 55,170,028 N185K possibly damaging Het
Sox9 G T 11: 112,785,349 G455C probably damaging Het
St6galnac1 G T 11: 116,769,345 D47E probably benign Het
Taar5 A T 10: 23,971,517 D271V probably damaging Het
Top3a A T 11: 60,762,528 I85K possibly damaging Het
Ttll8 T A 15: 88,914,556 M659L probably benign Het
Ythdc2 C T 18: 44,855,045 R656C probably damaging Het
Other mutations in Bub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Bub1 APN 2 127829472 missense probably damaging 0.96
IGL00795:Bub1 APN 2 127821815 missense probably benign 0.00
IGL00966:Bub1 APN 2 127810663 missense probably damaging 1.00
IGL01807:Bub1 APN 2 127812977 missense probably benign 0.00
IGL02212:Bub1 APN 2 127805351 missense probably damaging 1.00
IGL02537:Bub1 APN 2 127801347 nonsense probably null
IGL03064:Bub1 APN 2 127817453 missense probably benign 0.00
R0052:Bub1 UTSW 2 127809039 missense probably benign 0.10
R0052:Bub1 UTSW 2 127809039 missense probably benign 0.10
R0325:Bub1 UTSW 2 127801394 nonsense probably null
R1502:Bub1 UTSW 2 127827419 missense probably damaging 0.98
R1627:Bub1 UTSW 2 127809013 missense probably benign 0.01
R1743:Bub1 UTSW 2 127813850 missense probably damaging 1.00
R1778:Bub1 UTSW 2 127803122 missense possibly damaging 0.60
R2043:Bub1 UTSW 2 127804220 missense probably damaging 1.00
R2108:Bub1 UTSW 2 127819335 missense probably damaging 0.99
R2165:Bub1 UTSW 2 127801281 missense probably benign 0.01
R2190:Bub1 UTSW 2 127810725 missense probably benign 0.06
R2507:Bub1 UTSW 2 127801423 missense probably benign 0.04
R2508:Bub1 UTSW 2 127801423 missense probably benign 0.04
R3836:Bub1 UTSW 2 127814886 missense probably damaging 1.00
R3862:Bub1 UTSW 2 127814756 splice site probably benign
R3904:Bub1 UTSW 2 127821942 missense probably benign 0.08
R4373:Bub1 UTSW 2 127805236 intron probably benign
R4580:Bub1 UTSW 2 127829676 critical splice donor site probably null
R4751:Bub1 UTSW 2 127823938 intron probably benign
R5239:Bub1 UTSW 2 127821696 missense probably damaging 1.00
R5498:Bub1 UTSW 2 127814709 missense possibly damaging 0.59
R5591:Bub1 UTSW 2 127819343 missense probably benign 0.16
R5672:Bub1 UTSW 2 127804880 missense possibly damaging 0.70
R5907:Bub1 UTSW 2 127819222 missense probably benign 0.02
R6714:Bub1 UTSW 2 127814732 missense probably benign 0.08
R6781:Bub1 UTSW 2 127807857 missense probably damaging 0.99
R6931:Bub1 UTSW 2 127801382 missense probably damaging 1.00
R7057:Bub1 UTSW 2 127829527 missense probably benign
R7094:Bub1 UTSW 2 127821761 missense probably null 0.99
Z1176:Bub1 UTSW 2 127829565 missense probably damaging 1.00
Posted On2015-12-18