Incidental Mutation 'R6781:Bub1'
ID 531403
Institutional Source Beutler Lab
Gene Symbol Bub1
Ensembl Gene ENSMUSG00000027379
Gene Name BUB1, mitotic checkpoint serine/threonine kinase
Synonyms D2Xrf87, Bub1a
MMRRC Submission 044895-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6781 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 127643036-127673785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127649777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 694 (G694W)
Ref Sequence ENSEMBL: ENSMUSP00000028858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028858]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028858
AA Change: G694W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: G694W

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
Meta Mutation Damage Score 0.5426 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (45/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,593,380 (GRCm39) I259N possibly damaging Het
Acot12 G T 13: 91,932,531 (GRCm39) probably null Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Amigo3 T C 9: 107,931,162 (GRCm39) L195P probably damaging Het
Aox4 A T 1: 58,284,268 (GRCm39) D556V probably benign Het
Arhgef40 A C 14: 52,235,354 (GRCm39) probably benign Het
Asb15 T C 6: 24,558,674 (GRCm39) V63A probably benign Het
Bicd1 T C 6: 149,414,664 (GRCm39) I459T possibly damaging Het
C4b A T 17: 34,961,928 (GRCm39) I106N probably damaging Het
Clca4b T C 3: 144,628,562 (GRCm39) I382V probably benign Het
Cntnap5a A C 1: 116,220,127 (GRCm39) S646R probably benign Het
Cntnap5c C T 17: 58,445,648 (GRCm39) Q563* probably null Het
Cpn1 A G 19: 43,969,343 (GRCm39) F107L possibly damaging Het
Csrnp3 T A 2: 65,852,615 (GRCm39) C336S probably benign Het
Defa3 T A 8: 21,778,277 (GRCm39) M87K probably benign Het
Dennd2b T C 7: 109,124,511 (GRCm39) D1110G possibly damaging Het
Dmbt1 T C 7: 130,648,291 (GRCm39) F274L probably benign Het
Dnah8 TTA TTATA 17: 30,984,698 (GRCm39) probably null Het
Dnase2b T C 3: 146,288,126 (GRCm39) H323R probably benign Het
Fam83e A T 7: 45,371,571 (GRCm39) probably benign Het
Fbn1 T C 2: 125,158,958 (GRCm39) N2269S probably damaging Het
Foxa1 A T 12: 57,590,043 (GRCm39) M59K possibly damaging Het
Fpr3 T C 17: 18,190,978 (GRCm39) V83A probably benign Het
Frmd6 A G 12: 70,946,417 (GRCm39) D615G possibly damaging Het
Gfra3 T C 18: 34,844,375 (GRCm39) K55R possibly damaging Het
Gm5414 A T 15: 101,534,096 (GRCm39) S296T possibly damaging Het
Gtf3c1 T A 7: 125,258,369 (GRCm39) K1234* probably null Het
Hltf T A 3: 20,152,330 (GRCm39) Y609N probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift74 A G 4: 94,515,539 (GRCm39) D152G probably damaging Het
Kcnk6 T C 7: 28,924,480 (GRCm39) Y308C probably damaging Het
Klhl29 A G 12: 5,141,347 (GRCm39) S546P probably damaging Het
Map7d1 AGGGCAGCC AGGGCAGCCGGGCAGCC 4: 126,134,544 (GRCm39) probably null Het
Meis2 T A 2: 115,879,636 (GRCm39) H228L probably benign Het
Mfsd10 A T 5: 34,791,853 (GRCm39) M344K possibly damaging Het
Mrps33 T C 6: 39,782,757 (GRCm39) probably benign Het
Or2a52 A G 6: 43,144,322 (GRCm39) E110G probably damaging Het
Or4p23 A T 2: 88,577,174 (GRCm39) N19K probably benign Het
Pik3cb T C 9: 98,923,045 (GRCm39) T996A possibly damaging Het
Plekha7 A G 7: 115,757,090 (GRCm39) probably null Het
Ppp1cb A G 5: 32,638,106 (GRCm39) Y86C probably damaging Het
Sass6 T G 3: 116,388,773 (GRCm39) probably benign Het
Slc6a15 A T 10: 103,230,928 (GRCm39) I218F probably damaging Het
Tcf23 C T 5: 31,126,304 (GRCm39) P61L probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zc3h6 T C 2: 128,857,341 (GRCm39) F620S probably damaging 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
IGL01807:Bub1 APN 2 127,654,897 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TTTTACTTACAGGGCAGAGGG -3'
(R):5'- TTCCACATCCAGGCCAATTC -3'

Sequencing Primer
(F):5'- CCTCTGGAAGAAGTCAGTAGTTCTC -3'
(R):5'- GGCCAATTCAAGAGAAAATTTCAGC -3'
Posted On 2018-08-29