Incidental Mutation 'IGL01807:Bub1'
ID 155714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bub1
Ensembl Gene ENSMUSG00000027379
Gene Name BUB1, mitotic checkpoint serine/threonine kinase
Synonyms D2Xrf87, Bub1a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01807
Quality Score
Status
Chromosome 2
Chromosomal Location 127643036-127673785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127654897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 545 (S545P)
Ref Sequence ENSEMBL: ENSMUSP00000028858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028858]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028858
AA Change: S545P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: S545P

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: ENSMUST00000143824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153048
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,551,640 (GRCm39) L1223M probably damaging Het
Ano7 A G 1: 93,330,418 (GRCm39) E814G possibly damaging Het
Atf1 T C 15: 100,149,945 (GRCm39) probably benign Het
Bco2 T C 9: 50,457,158 (GRCm39) probably benign Het
Birc6 A G 17: 74,938,032 (GRCm39) I2625V probably benign Het
Cacna1i T A 15: 80,258,348 (GRCm39) I1173N probably damaging Het
Ccdc175 T C 12: 72,206,616 (GRCm39) E210G probably benign Het
Ccl2 G A 11: 81,926,513 (GRCm39) G9D possibly damaging Het
Chmp2b T A 16: 65,337,091 (GRCm39) T189S probably benign Het
Col4a1 A T 8: 11,297,056 (GRCm39) probably benign Het
Ecm1 A G 3: 95,643,891 (GRCm39) S236P probably damaging Het
Epha8 A G 4: 136,658,993 (GRCm39) V887A probably benign Het
Fam227a T C 15: 79,533,856 (GRCm39) M36V probably benign Het
Fbxo15 T A 18: 84,999,506 (GRCm39) probably benign Het
Mtmr4 A G 11: 87,494,976 (GRCm39) I423V possibly damaging Het
Ngly1 C T 14: 16,290,873 (GRCm38) L452F probably benign Het
Or52u1 T A 7: 104,237,091 (GRCm39) W27R probably damaging Het
Or5ac15 T C 16: 58,939,936 (GRCm39) T166A possibly damaging Het
Pak2 T C 16: 31,856,097 (GRCm39) K247E probably damaging Het
Pola2 A G 19: 6,003,187 (GRCm39) probably benign Het
Ppp1r9a C T 6: 5,158,248 (GRCm39) Q1219* probably null Het
Rasgrf1 T C 9: 89,873,566 (GRCm39) I625T probably damaging Het
Rpap1 T C 2: 119,613,189 (GRCm39) T120A possibly damaging Het
Scin T C 12: 40,134,288 (GRCm39) Y252C probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smc1b T A 15: 84,980,946 (GRCm39) D774V probably damaging Het
Uba6 C T 5: 86,270,270 (GRCm39) R838Q probably damaging Het
Ulk4 A G 9: 121,084,251 (GRCm39) S105P probably damaging Het
Vwa3a G A 7: 120,374,729 (GRCm39) probably null Het
Xirp2 A G 2: 67,345,375 (GRCm39) T2539A probably benign Het
Zfpm2 T C 15: 40,616,452 (GRCm39) probably null Het
Other mutations in Bub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Bub1 APN 2 127,671,392 (GRCm39) missense probably damaging 0.96
IGL00795:Bub1 APN 2 127,663,735 (GRCm39) missense probably benign 0.00
IGL00966:Bub1 APN 2 127,652,583 (GRCm39) missense probably damaging 1.00
IGL02212:Bub1 APN 2 127,647,271 (GRCm39) missense probably damaging 1.00
IGL02537:Bub1 APN 2 127,643,267 (GRCm39) nonsense probably null
IGL02935:Bub1 APN 2 127,643,215 (GRCm39) missense probably damaging 1.00
IGL03064:Bub1 APN 2 127,659,373 (GRCm39) missense probably benign 0.00
R0052:Bub1 UTSW 2 127,650,959 (GRCm39) missense probably benign 0.10
R0052:Bub1 UTSW 2 127,650,959 (GRCm39) missense probably benign 0.10
R0325:Bub1 UTSW 2 127,643,314 (GRCm39) nonsense probably null
R1502:Bub1 UTSW 2 127,669,339 (GRCm39) missense probably damaging 0.98
R1627:Bub1 UTSW 2 127,650,933 (GRCm39) missense probably benign 0.01
R1743:Bub1 UTSW 2 127,655,770 (GRCm39) missense probably damaging 1.00
R1778:Bub1 UTSW 2 127,645,042 (GRCm39) missense possibly damaging 0.60
R2043:Bub1 UTSW 2 127,646,140 (GRCm39) missense probably damaging 1.00
R2108:Bub1 UTSW 2 127,661,255 (GRCm39) missense probably damaging 0.99
R2165:Bub1 UTSW 2 127,643,201 (GRCm39) missense probably benign 0.01
R2190:Bub1 UTSW 2 127,652,645 (GRCm39) missense probably benign 0.06
R2507:Bub1 UTSW 2 127,643,343 (GRCm39) missense probably benign 0.04
R2508:Bub1 UTSW 2 127,643,343 (GRCm39) missense probably benign 0.04
R3836:Bub1 UTSW 2 127,656,806 (GRCm39) missense probably damaging 1.00
R3862:Bub1 UTSW 2 127,656,676 (GRCm39) splice site probably benign
R3904:Bub1 UTSW 2 127,663,862 (GRCm39) missense probably benign 0.08
R4373:Bub1 UTSW 2 127,647,156 (GRCm39) intron probably benign
R4580:Bub1 UTSW 2 127,671,596 (GRCm39) critical splice donor site probably null
R4751:Bub1 UTSW 2 127,665,858 (GRCm39) intron probably benign
R5239:Bub1 UTSW 2 127,663,616 (GRCm39) missense probably damaging 1.00
R5498:Bub1 UTSW 2 127,656,629 (GRCm39) missense possibly damaging 0.59
R5591:Bub1 UTSW 2 127,661,263 (GRCm39) missense probably benign 0.16
R5672:Bub1 UTSW 2 127,646,800 (GRCm39) missense possibly damaging 0.70
R5907:Bub1 UTSW 2 127,661,142 (GRCm39) missense probably benign 0.02
R6714:Bub1 UTSW 2 127,656,652 (GRCm39) missense probably benign 0.08
R6781:Bub1 UTSW 2 127,649,777 (GRCm39) missense probably damaging 0.99
R6931:Bub1 UTSW 2 127,643,302 (GRCm39) missense probably damaging 1.00
R7057:Bub1 UTSW 2 127,671,447 (GRCm39) missense probably benign
R7094:Bub1 UTSW 2 127,663,681 (GRCm39) missense probably null 0.99
R8197:Bub1 UTSW 2 127,643,177 (GRCm39) missense probably damaging 1.00
R8423:Bub1 UTSW 2 127,649,750 (GRCm39) missense probably benign 0.00
R8463:Bub1 UTSW 2 127,659,353 (GRCm39) missense probably benign 0.30
R8725:Bub1 UTSW 2 127,646,139 (GRCm39) missense probably damaging 1.00
R8727:Bub1 UTSW 2 127,646,139 (GRCm39) missense probably damaging 1.00
R8840:Bub1 UTSW 2 127,649,927 (GRCm39) missense probably benign 0.01
R8904:Bub1 UTSW 2 127,671,622 (GRCm39) missense possibly damaging 0.93
R9187:Bub1 UTSW 2 127,656,856 (GRCm39) missense possibly damaging 0.68
R9624:Bub1 UTSW 2 127,646,766 (GRCm39) missense probably damaging 0.96
R9727:Bub1 UTSW 2 127,652,609 (GRCm39) missense possibly damaging 0.61
Z1176:Bub1 UTSW 2 127,671,485 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04