Incidental Mutation 'R8787:Bub1b'
ID 670683
Institutional Source Beutler Lab
Gene Symbol Bub1b
Ensembl Gene ENSMUSG00000040084
Gene Name BUB1B, mitotic checkpoint serine/threonine kinase
Synonyms BUBR1
MMRRC Submission 068633-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8787 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 118428692-118472072 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118462305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 726 (L726I)
Ref Sequence ENSEMBL: ENSMUSP00000037126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038341]
AlphaFold Q9Z1S0
Predicted Effect probably damaging
Transcript: ENSMUST00000038341
AA Change: L726I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084
AA Change: L726I

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,225,053 (GRCm39) H511Y possibly damaging Het
Acp5 G A 9: 22,038,489 (GRCm39) R271* probably null Het
Adamts20 A T 15: 94,184,294 (GRCm39) V1503E possibly damaging Het
Adra2b A T 2: 127,206,417 (GRCm39) E311D probably benign Het
Aldh18a1 T C 19: 40,546,230 (GRCm39) I556V possibly damaging Het
Alox12 C A 11: 70,144,146 (GRCm39) A116S probably benign Het
Alox5 G T 6: 116,390,102 (GRCm39) A552E probably damaging Het
Angpt1 G T 15: 42,375,780 (GRCm39) L159I probably damaging Het
Atp2b4 CTT CTTTTT 1: 133,629,485 (GRCm39) probably benign Het
Ccdc78 A T 17: 26,006,807 (GRCm39) T165S probably benign Het
Ccdc88b T C 19: 6,824,791 (GRCm39) D1323G probably damaging Het
Chek1 A T 9: 36,625,033 (GRCm39) C349* probably null Het
Clec1a A T 6: 129,428,617 (GRCm39) L21Q possibly damaging Het
Col1a1 T C 11: 94,833,634 (GRCm39) V445A possibly damaging Het
Efcab7 A G 4: 99,757,791 (GRCm39) T313A probably null Het
Fads1 T A 19: 10,170,325 (GRCm39) Y288* probably null Het
Fgb T A 3: 82,953,969 (GRCm39) T90S probably benign Het
Glg1 C A 8: 111,888,114 (GRCm39) V1026L probably damaging Het
Hadh T A 3: 131,027,825 (GRCm39) Y313F probably damaging Het
Htr4 A G 18: 62,570,853 (GRCm39) I303V possibly damaging Het
Kcnn3 A G 3: 89,552,757 (GRCm39) D487G possibly damaging Het
L1td1 G A 4: 98,625,814 (GRCm39) V604I probably benign Het
Lao1 A G 4: 118,825,565 (GRCm39) T462A probably damaging Het
Lefty1 C A 1: 180,764,118 (GRCm39) A86E probably damaging Het
Lmx1b T C 2: 33,529,522 (GRCm39) Y79C Het
Lrp2 A G 2: 69,382,745 (GRCm39) C47R probably damaging Het
Mrc2 A T 11: 105,238,465 (GRCm39) N1204I probably benign Het
Ncf1 A C 5: 134,254,145 (GRCm39) Y209* probably null Het
Or14j7 T A 17: 38,235,075 (GRCm39) M206K probably benign Het
Or2ad1 A T 13: 21,326,453 (GRCm39) M258K possibly damaging Het
Or8k33 G A 2: 86,384,297 (GRCm39) T57M probably damaging Het
Oxtr T G 6: 112,466,871 (GRCm39) probably benign Het
Pcdhac1 T C 18: 37,224,942 (GRCm39) V585A probably damaging Het
Pdcd11 T G 19: 47,097,019 (GRCm39) L755R probably damaging Het
Pkhd1 A G 1: 20,358,461 (GRCm39) V2705A probably damaging Het
Plch2 C A 4: 155,070,875 (GRCm39) G1168V probably benign Het
Prpf39 T C 12: 65,089,555 (GRCm39) Y98H possibly damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rassf10 T A 7: 112,554,738 (GRCm39) D446E probably benign Het
Rgs13 T C 1: 144,016,482 (GRCm39) Y87C probably damaging Het
Serpinb9h G A 13: 33,588,204 (GRCm39) R263H probably benign Het
Smpd3 G A 8: 106,982,377 (GRCm39) R576C probably damaging Het
Spata31e1 T C 13: 49,938,704 (GRCm39) Y1002C probably damaging Het
Srsf11 A T 3: 157,718,037 (GRCm39) D382E unknown Het
Stpg1 T A 4: 135,261,108 (GRCm39) M306K probably benign Het
Svil C T 18: 5,059,332 (GRCm39) Q696* probably null Het
Syna C T 5: 134,588,723 (GRCm39) M75I probably benign Het
Synj2 T C 17: 6,036,514 (GRCm39) F161S possibly damaging Het
Tek T C 4: 94,738,037 (GRCm39) Y696H probably damaging Het
Tgfbr1 A T 4: 47,405,555 (GRCm39) D386V possibly damaging Het
Tgm4 G T 9: 122,890,910 (GRCm39) G503V probably damaging Het
Tnni3k T C 3: 154,645,691 (GRCm39) E461G probably damaging Het
Tom1l1 A T 11: 90,561,931 (GRCm39) H232Q probably benign Het
Ubqln5 T C 7: 103,778,329 (GRCm39) N165S probably benign Het
Vmn1r24 G A 6: 57,932,958 (GRCm39) L187F probably benign Het
Vmn2r82 C T 10: 79,213,894 (GRCm39) T160I probably damaging Het
Vmn2r96 G T 17: 18,818,250 (GRCm39) G801V probably damaging Het
Vps39 A G 2: 120,172,506 (GRCm39) S176P probably damaging Het
Vsig10 C A 5: 117,472,981 (GRCm39) H191Q probably benign Het
Wtap G A 17: 13,186,488 (GRCm39) S353L possibly damaging Het
Zmym4 T G 4: 126,816,953 (GRCm39) R248S probably benign Het
Zscan10 A G 17: 23,829,011 (GRCm39) S518G probably benign Het
Zscan29 A T 2: 120,996,876 (GRCm39) Y282N probably 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
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
R9569:Bub1b UTSW 2 118,468,884 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2021-04-30