Incidental Mutation 'R0322:Bub1b'
ID 25601
Institutional Source Beutler Lab
Gene Symbol Bub1b
Ensembl Gene ENSMUSG00000040084
Gene Name BUB1B, mitotic checkpoint serine/threonine kinase
Synonyms BUBR1
MMRRC Submission 038532-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0322 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 118428692-118472072 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 118470099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038341]
AlphaFold Q9Z1S0
Predicted Effect probably benign
Transcript: ENSMUST00000038341
SMART Domains Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126013
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.8%
  • 20x: 84.3%
Validation Efficiency 98% (58/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,888,768 (GRCm39) S275T possibly damaging Het
Adam34 G T 8: 44,104,958 (GRCm39) T229N probably benign Het
Adgrb3 C A 1: 25,260,829 (GRCm39) probably benign Het
Ankhd1 T A 18: 36,791,061 (GRCm39) Y2478* probably null Het
Arl9 A G 5: 77,155,037 (GRCm39) probably benign Het
Chl1 A T 6: 103,678,844 (GRCm39) probably benign Het
Cobl T A 11: 12,217,072 (GRCm39) E465V probably damaging Het
Cobll1 A T 2: 64,932,442 (GRCm39) M520K possibly damaging Het
Dll3 A G 7: 27,995,793 (GRCm39) V336A possibly damaging Het
Dnmbp T C 19: 43,843,285 (GRCm39) H1193R probably damaging Het
Fbxo43 T C 15: 36,152,338 (GRCm39) probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gjc3 A T 5: 137,955,760 (GRCm39) M175K possibly damaging Het
Gpc5 T A 14: 115,636,563 (GRCm39) N415K probably benign Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Il7r A T 15: 9,510,301 (GRCm39) F251I probably benign Het
Insc A G 7: 114,391,500 (GRCm39) E141G probably damaging Het
Itm2c C T 1: 85,834,751 (GRCm39) T160M probably damaging Het
Mboat1 T C 13: 30,416,063 (GRCm39) probably benign Het
Mdm2 G T 10: 117,538,109 (GRCm39) H96Q possibly damaging Het
Mettl13 A G 1: 162,371,745 (GRCm39) probably benign Het
Mfsd4b3-ps T C 10: 39,823,526 (GRCm39) N245D probably damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mtmr3 T C 11: 4,437,505 (GRCm39) Y982C possibly damaging Het
Mymk A T 2: 26,957,418 (GRCm39) L66Q probably damaging Het
Myo18a T C 11: 77,720,626 (GRCm39) S767P probably damaging Het
Ndufa8 T C 2: 35,926,634 (GRCm39) D134G probably benign Het
Noxa1 A G 2: 24,982,566 (GRCm39) F83S probably damaging Het
Npc1l1 T A 11: 6,179,042 (GRCm39) I123L probably benign Het
Ogdhl A G 14: 32,059,534 (GRCm39) T394A probably benign Het
Or4s2b T C 2: 88,509,011 (GRCm39) S264P probably damaging Het
Or5ae1 A G 7: 84,565,521 (GRCm39) Y178C probably damaging Het
Pcdh20 T C 14: 88,706,383 (GRCm39) T306A probably benign Het
Pcid2 G A 8: 13,140,775 (GRCm39) probably benign Het
Phyhip G A 14: 70,700,836 (GRCm39) V108M possibly damaging Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Psmb4 A G 3: 94,793,402 (GRCm39) Y160H probably benign Het
Riox2 A T 16: 59,309,752 (GRCm39) K369* probably null Het
Rnf26rt T C 6: 76,473,401 (GRCm39) Y405C probably benign Het
Sh3tc1 G A 5: 35,863,905 (GRCm39) P761S possibly damaging Het
Slc6a3 T A 13: 73,709,045 (GRCm39) V323D possibly damaging Het
Smg7 A G 1: 152,725,624 (GRCm39) probably null Het
Srrt G A 5: 137,294,870 (GRCm39) R370C probably damaging Het
Stc1 T C 14: 69,266,858 (GRCm39) V7A probably benign Het
Svep1 G T 4: 58,057,996 (GRCm39) probably benign Het
Tbpl2 A G 2: 23,984,991 (GRCm39) V51A probably benign Het
Tecr A G 8: 84,298,872 (GRCm39) Y248H probably damaging Het
Tenm3 A G 8: 48,689,947 (GRCm39) probably benign Het
Tia1 C T 6: 86,397,369 (GRCm39) A114V probably damaging Het
Tmprss11f A T 5: 86,739,275 (GRCm39) M2K probably benign Het
Tnfsf8 T C 4: 63,752,403 (GRCm39) T221A probably damaging Het
Tubgcp5 G A 7: 55,464,726 (GRCm39) G536S probably damaging Het
Tyr A T 7: 87,142,125 (GRCm39) I145N probably benign Het
Ubr4 T A 4: 139,149,729 (GRCm39) V1809E probably damaging Het
Vmn2r65 A T 7: 84,595,756 (GRCm39) N309K probably benign 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
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
R1138:Bub1b UTSW 2 118,453,570 (GRCm39) missense probably benign 0.01
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'- AAGCGGTTATGTGGGCCACAGTAG -3'
(R):5'- TGAACGCAGAGACAGCACTTGG -3'

Sequencing Primer
(F):5'- acgcctttaatcccagcac -3'
(R):5'- GTTGCCTACCACAGCAGAG -3'
Posted On 2013-04-16