Incidental Mutation 'R1138:Bub1b'
ID 95271
Institutional Source Beutler Lab
Gene Symbol Bub1b
Ensembl Gene ENSMUSG00000040084
Gene Name BUB1B, mitotic checkpoint serine/threonine kinase
Synonyms BUBR1
MMRRC Submission 039211-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1138 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 118428692-118472072 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118453570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 467 (T467I)
Ref Sequence ENSEMBL: ENSMUSP00000037126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038341]
AlphaFold Q9Z1S0
Predicted Effect probably benign
Transcript: ENSMUST00000038341
AA Change: T467I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084
AA Change: T467I

DomainStartEndE-ValueType
PDB:4GGD|D 14 35 6e-6 PDB
Mad3_BUB1_I 49 173 1.83e-68 SMART
low complexity region 198 214 N/A INTRINSIC
low complexity region 382 395 N/A INTRINSIC
coiled coil region 418 457 N/A INTRINSIC
low complexity region 671 686 N/A INTRINSIC
low complexity region 717 726 N/A INTRINSIC
Pfam:Pkinase 806 942 4.5e-7 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant embryos undergo extensive apoptosis and die during early gestation. Heterozygous mice are viable and exhibit splenomegaly, abnormal megakaryopoiesis, and an increased susceptibility to intestinal tumorigenesis. Hypomorphic homozygotes display infertility and premature aging. [provided by MGI curators]
Allele List at MGI

All alleles(22) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(18)

Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,967,497 (GRCm39) N974K probably benign Het
Brd8dc C T 18: 34,713,297 (GRCm39) V258I probably benign Het
Bzw1 T C 1: 58,440,545 (GRCm39) Y173H probably damaging Het
Chl1 A G 6: 103,670,140 (GRCm39) D526G probably benign Het
Dnajc22 AGACACT A 15: 99,002,308 (GRCm39) probably benign Het
Dstyk A G 1: 132,391,224 (GRCm39) N920S probably benign Het
Glra3 A G 8: 56,542,011 (GRCm39) probably null Het
Hpgd G A 8: 56,760,712 (GRCm39) M136I probably benign Het
Igfbp2 A G 1: 72,888,257 (GRCm39) D133G probably damaging Het
Lin54 A G 5: 100,591,993 (GRCm39) M642T probably damaging Het
Map7d1 T C 4: 126,135,912 (GRCm39) T99A possibly damaging Het
Mfsd4b5 C T 10: 39,851,150 (GRCm39) C35Y probably damaging Het
Mycbp2 G T 14: 103,412,262 (GRCm39) N2570K possibly damaging Het
Nr4a2 T C 2: 57,002,391 (GRCm39) S21G probably damaging Het
Oacyl T A 18: 65,858,521 (GRCm39) L209Q probably damaging Het
Or4c125 T C 2: 89,170,434 (GRCm39) I71V probably benign Het
Pkd1 C A 17: 24,805,006 (GRCm39) N3218K probably damaging Het
Scyl3 A G 1: 163,761,234 (GRCm39) N46S possibly damaging Het
Sh2d3c G T 2: 32,639,417 (GRCm39) R349L probably benign Het
Siae G A 9: 37,553,988 (GRCm39) R366H probably damaging Het
Tmem108 T C 9: 103,376,168 (GRCm39) N427S possibly damaging Het
Other mutations in Bub1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00676:Bub1b APN 2 118,460,619 (GRCm39) missense probably benign
IGL01319:Bub1b APN 2 118,445,475 (GRCm39) missense possibly damaging 0.49
IGL01744:Bub1b APN 2 118,467,230 (GRCm39) missense probably damaging 0.99
IGL03184:Bub1b APN 2 118,440,258 (GRCm39) splice site probably benign
P0035:Bub1b UTSW 2 118,452,666 (GRCm39) missense probably damaging 1.00
R0315:Bub1b UTSW 2 118,457,457 (GRCm39) splice site probably benign
R0322:Bub1b UTSW 2 118,470,099 (GRCm39) splice site probably benign
R0378:Bub1b UTSW 2 118,471,604 (GRCm39) missense probably benign 0.01
R0457:Bub1b UTSW 2 118,440,340 (GRCm39) missense probably damaging 1.00
R0845:Bub1b UTSW 2 118,440,457 (GRCm39) missense probably damaging 1.00
R0960:Bub1b UTSW 2 118,437,161 (GRCm39) missense probably benign 0.03
R1071:Bub1b UTSW 2 118,462,928 (GRCm39) frame shift probably null
R1129:Bub1b UTSW 2 118,445,487 (GRCm39) missense probably damaging 1.00
R1171:Bub1b UTSW 2 118,437,167 (GRCm39) missense probably benign 0.31
R1613:Bub1b UTSW 2 118,470,222 (GRCm39) critical splice donor site probably null
R1667:Bub1b UTSW 2 118,471,670 (GRCm39) missense probably benign 0.00
R1812:Bub1b UTSW 2 118,462,902 (GRCm39) missense probably benign 0.00
R1828:Bub1b UTSW 2 118,468,920 (GRCm39) missense probably benign 0.00
R2085:Bub1b UTSW 2 118,452,676 (GRCm39) missense possibly damaging 0.88
R2137:Bub1b UTSW 2 118,467,199 (GRCm39) nonsense probably null
R3749:Bub1b UTSW 2 118,445,936 (GRCm39) missense possibly damaging 0.63
R3750:Bub1b UTSW 2 118,445,936 (GRCm39) missense possibly damaging 0.63
R4211:Bub1b UTSW 2 118,461,459 (GRCm39) missense possibly damaging 0.78
R4579:Bub1b UTSW 2 118,453,657 (GRCm39) nonsense probably null
R4993:Bub1b UTSW 2 118,467,251 (GRCm39) missense possibly damaging 0.63
R5144:Bub1b UTSW 2 118,445,980 (GRCm39) missense possibly damaging 0.92
R5229:Bub1b UTSW 2 118,460,470 (GRCm39) missense probably damaging 1.00
R5596:Bub1b UTSW 2 118,461,463 (GRCm39) missense probably damaging 1.00
R5656:Bub1b UTSW 2 118,435,912 (GRCm39) missense probably damaging 1.00
R5785:Bub1b UTSW 2 118,440,325 (GRCm39) missense probably damaging 0.98
R5883:Bub1b UTSW 2 118,440,363 (GRCm39) missense probably damaging 1.00
R6128:Bub1b UTSW 2 118,448,293 (GRCm39) missense probably benign
R6187:Bub1b UTSW 2 118,461,481 (GRCm39) missense probably damaging 1.00
R6333:Bub1b UTSW 2 118,428,944 (GRCm39) critical splice donor site probably null
R6985:Bub1b UTSW 2 118,437,095 (GRCm39) missense probably damaging 1.00
R6988:Bub1b UTSW 2 118,467,311 (GRCm39) missense probably damaging 0.96
R7161:Bub1b UTSW 2 118,456,534 (GRCm39) missense probably damaging 1.00
R7341:Bub1b UTSW 2 118,467,267 (GRCm39) missense possibly damaging 0.95
R7575:Bub1b UTSW 2 118,471,639 (GRCm39) missense possibly damaging 0.51
R7824:Bub1b UTSW 2 118,457,448 (GRCm39) splice site probably null
R8129:Bub1b UTSW 2 118,468,975 (GRCm39) missense probably benign 0.06
R8702:Bub1b UTSW 2 118,468,975 (GRCm39) missense probably benign 0.06
R8787:Bub1b UTSW 2 118,462,305 (GRCm39) missense probably damaging 1.00
R9569:Bub1b UTSW 2 118,468,884 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGTACAACAGTACCGAGGTGACG -3'
(R):5'- GCAGCAGCATACATTCCCTCTTAGC -3'

Sequencing Primer
(F):5'- ttctacccaagtccaagttcc -3'
(R):5'- CTCATCACTCAGGACTGTGAAAGG -3'
Posted On 2014-01-05