Incidental Mutation 'R5591:Bub1'
ID 437509
Institutional Source Beutler Lab
Gene Symbol Bub1
Ensembl Gene ENSMUSG00000027379
Gene Name BUB1, mitotic checkpoint serine/threonine kinase
Synonyms D2Xrf87, Bub1a
MMRRC Submission 043269-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5591 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 127643036-127673785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127661263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 276 (M276K)
Ref Sequence ENSEMBL: ENSMUSP00000028858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028858]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028858
AA Change: M276K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: M276K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143824
Meta Mutation Damage Score 0.0586 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 97% (56/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 T C 7: 44,794,076 (GRCm39) E13G probably null Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Casp14 A T 10: 78,550,179 (GRCm39) D156E unknown Het
Ccdc82 T A 9: 13,272,822 (GRCm39) probably null Het
Cdc42bpb T C 12: 111,289,521 (GRCm39) N436S probably benign Het
Cyp2j12 A G 4: 96,029,359 (GRCm39) probably benign Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Daxx T C 17: 34,130,662 (GRCm39) S226P probably damaging Het
Gm3676 T C 14: 41,365,181 (GRCm39) Y158C probably benign Het
Gnai1 A T 5: 18,476,844 (GRCm39) I285K probably benign Het
Gpr179 C T 11: 97,236,581 (GRCm39) V417I probably benign Het
Helz2 C T 2: 180,882,051 (GRCm39) M247I probably damaging Het
Hmcn2 C T 2: 31,234,059 (GRCm39) L275F probably damaging Het
Ifi27l2b A G 12: 103,417,566 (GRCm39) V207A probably damaging Het
Isg20l2 C T 3: 87,837,731 (GRCm39) probably benign Het
Itga6 A G 2: 71,670,934 (GRCm39) D221G probably damaging Het
Lca5l T C 16: 95,979,929 (GRCm39) Y67C probably damaging Het
Loxl3 T A 6: 83,025,018 (GRCm39) C249S probably damaging Het
Luc7l3 T C 11: 94,184,060 (GRCm39) probably benign Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mbd5 A C 2: 49,164,681 (GRCm39) Q958H probably damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrm3 G A 11: 76,140,907 (GRCm39) R305H probably benign Het
Mtrex A T 13: 113,063,890 (GRCm39) M1K probably null Het
Or10ak7 A T 4: 118,791,658 (GRCm39) I127K probably damaging Het
Or1j18 A T 2: 36,625,244 (GRCm39) I304F probably benign Het
Or2aj5 T A 16: 19,424,608 (GRCm39) Q270L probably damaging Het
Or2ak7 A G 11: 58,574,951 (GRCm39) N84S probably benign Het
Or2d3c A T 7: 106,526,489 (GRCm39) M59K probably damaging Het
Or4c126 A G 2: 89,823,751 (GRCm39) T5A possibly damaging Het
Or51q1 G T 7: 103,629,320 (GRCm39) R307L probably benign Het
P3h3 C T 6: 124,831,658 (GRCm39) probably benign Het
Pals2 A G 6: 50,157,159 (GRCm39) S276G probably benign Het
Plekhg3 C T 12: 76,607,066 (GRCm39) S42L possibly damaging Het
Polq A G 16: 36,832,247 (GRCm39) probably benign Het
Pramel16 T C 4: 143,675,377 (GRCm39) Y483C probably damaging Het
Pramel28 G T 4: 143,691,530 (GRCm39) L398I probably damaging Het
Raph1 G A 1: 60,540,905 (GRCm39) probably benign Het
Rnf144b G A 13: 47,396,430 (GRCm39) probably null Het
Ryr2 A G 13: 11,609,900 (GRCm39) S4309P probably benign Het
Sash1 A T 10: 8,601,482 (GRCm39) S1158T probably benign Het
Sim2 T C 16: 93,898,048 (GRCm39) V94A probably damaging Het
Sirt5 A G 13: 43,525,317 (GRCm39) D42G possibly damaging Het
Smarcal1 A T 1: 72,630,412 (GRCm39) K155N probably damaging Het
Spam1 A G 6: 24,800,545 (GRCm39) Y428C probably damaging Het
Spef2 T C 15: 9,583,922 (GRCm39) N1655S probably benign Het
Sympk A G 7: 18,787,964 (GRCm39) E1160G probably damaging Het
Tmem192 A G 8: 65,418,254 (GRCm39) Y168C possibly damaging Het
Ttn T A 2: 76,540,012 (GRCm39) M25998L probably benign Het
Usp48 A G 4: 137,379,963 (GRCm39) probably benign Het
Vamp4 A G 1: 162,415,811 (GRCm39) I71V possibly damaging Het
Washc5 C A 15: 59,241,012 (GRCm39) D108Y probably damaging Het
Wdfy4 T A 14: 32,829,087 (GRCm39) H1043L probably benign Het
Zcchc14 C T 8: 122,332,187 (GRCm39) probably benign Het
Zfp407 A G 18: 84,579,262 (GRCm39) F617S probably damaging Het
Zfp869 T A 8: 70,160,342 (GRCm39) N77I probably benign 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
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
R6781:Bub1 UTSW 2 127,649,777 (GRCm39) missense probably damaging 0.99
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'- GGACGTCTGTGGAGACTAGC -3'
(R):5'- TTTAATAGTAACTATGGTGAGGACAGG -3'

Sequencing Primer
(F):5'- TTGAGCGAAACATTTCCACTCAGTC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2016-10-26