Incidental Mutation 'R1812:Bub1b'
ID 202443
Institutional Source Beutler Lab
Gene Symbol Bub1b
Ensembl Gene ENSMUSG00000040084
Gene Name BUB1B, mitotic checkpoint serine/threonine kinase
Synonyms BUBR1
MMRRC Submission 039840-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1812 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 118428692-118472072 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 118462902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 754 (D754E)
Ref Sequence ENSEMBL: ENSMUSP00000037126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038341]
AlphaFold Q9Z1S0
Predicted Effect probably benign
Transcript: ENSMUST00000038341
AA Change: D754E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084
AA Change: D754E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130512
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.3%
  • 10x: 93.2%
  • 20x: 85.7%
Validation Efficiency 100% (1/1)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,164,740 (GRCm39) Q545* probably null Het
Aadacl2 T C 3: 59,932,498 (GRCm39) C338R probably damaging Het
Abcb4 G A 5: 8,978,578 (GRCm39) probably null Het
Adam17 T C 12: 21,411,768 (GRCm39) D41G probably damaging Het
Angptl7 T A 4: 148,582,540 (GRCm39) I119F probably damaging Het
Arid1b T A 17: 5,387,304 (GRCm39) S1586T probably benign Het
Arid4b C T 13: 14,370,014 (GRCm39) A1170V probably damaging Het
Atad5 A G 11: 80,023,873 (GRCm39) T1659A probably damaging Het
Cdkn1a T C 17: 29,317,539 (GRCm39) V53A probably benign Het
Chsy1 T G 7: 65,821,565 (GRCm39) V600G probably benign Het
Cntrl G A 2: 35,039,481 (GRCm39) V561M probably damaging Het
Col6a5 A G 9: 105,805,253 (GRCm39) C1218R unknown Het
Crhr1 T C 11: 104,059,973 (GRCm39) L140P probably damaging Het
Cyb5b CAGAG CAG 8: 107,897,020 (GRCm39) probably null Het
Cyp3a59 A T 5: 146,039,621 (GRCm39) Q298L probably damaging Het
Dctn1 A G 6: 83,169,500 (GRCm39) E638G possibly damaging Het
Ddx41 A G 13: 55,683,767 (GRCm39) I88T probably benign Het
Dennd11 A G 6: 40,386,365 (GRCm39) I288T probably benign Het
Diaph1 G T 18: 38,024,071 (GRCm39) P589Q unknown Het
Dip2b C A 15: 100,096,819 (GRCm39) probably null Het
Dscaml1 G A 9: 45,662,584 (GRCm39) probably null Het
Dync1h1 C T 12: 110,629,334 (GRCm39) A4246V possibly damaging Het
Epb41l1 T C 2: 156,338,431 (GRCm39) I158T probably damaging Het
Fat1 A G 8: 45,489,840 (GRCm39) Y3584C probably damaging Het
Fxyd5 T A 7: 30,737,355 (GRCm39) probably null Het
Gapvd1 T A 2: 34,615,076 (GRCm39) K336* probably null Het
Gm9637 G A 14: 19,402,395 (GRCm38) noncoding transcript Het
Gpr65 C T 12: 98,242,001 (GRCm39) T218M probably damaging Het
Gsdma3 T C 11: 98,523,219 (GRCm39) V203A probably damaging Het
Helb T A 10: 119,925,471 (GRCm39) K969* probably null Het
Hipk2 G A 6: 38,675,098 (GRCm39) A1188V probably benign Het
Itpk1 T A 12: 102,540,317 (GRCm39) E255D probably benign Het
Kif21a T C 15: 90,855,969 (GRCm39) D596G possibly damaging Het
Kif5a A T 10: 127,077,879 (GRCm39) I405N probably benign Het
Klk1b11 T A 7: 43,427,179 (GRCm39) probably null Het
Luzp1 T A 4: 136,269,642 (GRCm39) L622M probably benign Het
Macf1 T A 4: 123,325,817 (GRCm39) I5227F probably damaging Het
Mapk10 A C 5: 103,061,128 (GRCm39) S470A probably damaging Het
Morc2a C T 11: 3,635,831 (GRCm39) T897I probably damaging Het
Nmbr A G 10: 14,636,283 (GRCm39) probably null Het
Nosip T A 7: 44,725,998 (GRCm39) M214K probably damaging Het
Or13c7d G T 4: 43,770,230 (GRCm39) Y260* probably null Het
Or52m2 A T 7: 102,263,577 (GRCm39) N206K possibly damaging Het
Or52r1 T C 7: 102,537,285 (GRCm39) Y25C probably benign Het
Or5w13 A G 2: 87,523,447 (GRCm39) F260L probably benign Het
Pik3c2a A T 7: 116,016,899 (GRCm39) V286E probably damaging Het
Ppfia4 T A 1: 134,252,311 (GRCm39) I388F probably benign Het
Ppm1f A G 16: 16,735,651 (GRCm39) H289R probably damaging Het
Ptprz1 T A 6: 22,959,711 (GRCm39) D69E probably benign Het
Rad54b A T 4: 11,612,770 (GRCm39) T801S probably damaging Het
Ramp1 A T 1: 91,124,579 (GRCm39) N47Y probably damaging Het
Rnf32 T A 5: 29,411,258 (GRCm39) H181Q possibly damaging Het
Rpa2 T C 4: 132,495,996 (GRCm39) F6L probably benign Het
Ryr2 C A 13: 11,575,472 (GRCm39) R4842L probably damaging Het
Scn11a G T 9: 119,609,931 (GRCm39) C972* probably null Het
Setd2 C T 9: 110,379,170 (GRCm39) T995I probably damaging Het
Slc39a7 A G 17: 34,247,789 (GRCm39) L471P probably damaging Het
Slc6a21 C G 7: 44,932,371 (GRCm39) S350R probably damaging Het
Slx4ip A G 2: 136,910,115 (GRCm39) N300S probably benign Het
Spef2 G A 15: 9,679,435 (GRCm39) P634L probably damaging Het
Stk32b G A 5: 37,624,102 (GRCm39) A215V probably damaging Het
Svil A T 18: 5,097,545 (GRCm39) Y1676F probably damaging Het
Tanc1 G A 2: 59,622,023 (GRCm39) V381M probably damaging Het
Tanc2 T C 11: 105,777,212 (GRCm39) F797L probably benign Het
Tas2r120 T G 6: 132,634,564 (GRCm39) C215W probably benign Het
Tenm4 G A 7: 96,545,147 (GRCm39) D2388N probably damaging Het
Thsd4 C T 9: 59,964,220 (GRCm39) S64N probably damaging Het
Thsd7b C T 1: 129,686,347 (GRCm39) R630C probably damaging Het
Top3a A G 11: 60,650,188 (GRCm39) I145T probably damaging Het
Vmn2r78 A G 7: 86,569,995 (GRCm39) D171G probably benign Het
Vmn2r82 A G 10: 79,215,046 (GRCm39) E343G probably benign Het
Wdr70 T C 15: 8,108,663 (GRCm39) D161G 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
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
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'- GCCTGCATGTATGTAATGCC -3'
(R):5'- GCGTCCTAGGTTTTACAGTACTAC -3'

Sequencing Primer
(F):5'- GGGAATTAACCCTGAGTCCTC -3'
(R):5'- GGTTTTACAGTACTACAAGGACACAC -3'
Posted On 2014-06-23