Incidental Mutation 'R0325:Bub1'
ID 25694
Institutional Source Beutler Lab
Gene Symbol Bub1
Ensembl Gene ENSMUSG00000027379
Gene Name BUB1, mitotic checkpoint serine/threonine kinase
Synonyms D2Xrf87, Bub1a
MMRRC Submission 038535-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0325 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 127643036-127673785 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 127643314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 1010 (L1010*)
Ref Sequence ENSEMBL: ENSMUSP00000028858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028858]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000028858
AA Change: L1010*
SMART Domains Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: L1010*

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: ENSMUST00000138624
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.0%
Validation Efficiency
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T C 4: 144,282,081 (GRCm39) Y237C probably damaging Het
Adcyap1 A G 17: 93,510,260 (GRCm39) D96G probably benign Het
Adgrv1 C T 13: 81,688,134 (GRCm39) V1749M probably damaging Het
Adnp2 A T 18: 80,173,868 (GRCm39) N180K probably benign Het
Ahdc1 G T 4: 132,790,030 (GRCm39) A424S unknown Het
Alpk3 G A 7: 80,717,701 (GRCm39) R86H possibly damaging Het
Atf7ip A C 6: 136,537,987 (GRCm39) T49P possibly damaging Het
Atp7b G A 8: 22,518,467 (GRCm39) L124F probably benign Het
Cd300c C A 11: 114,850,411 (GRCm39) E131* probably null Het
Cep135 A G 5: 76,763,590 (GRCm39) K527E probably damaging Het
Cfd G T 10: 79,727,592 (GRCm39) E89* probably null Het
Crb1 A C 1: 139,168,904 (GRCm39) C871W probably damaging Het
D6Ertd527e A T 6: 87,088,277 (GRCm39) S147C unknown Het
Ddx60 A T 8: 62,436,889 (GRCm39) E946D probably benign Het
Dmrt1 G A 19: 25,523,371 (GRCm39) E241K probably benign Het
Dnah11 C G 12: 117,976,074 (GRCm39) V2782L probably benign Het
Dzip1 T C 14: 119,146,969 (GRCm39) I313M probably damaging Het
Egln3 T C 12: 54,250,298 (GRCm39) E17G probably benign Het
Eif3d A G 15: 77,852,420 (GRCm39) V42A probably damaging Het
Elapor1 A G 3: 108,368,567 (GRCm39) L808P probably damaging Het
Eogt C A 6: 97,090,916 (GRCm39) G408W probably damaging Het
Fip1l1 T A 5: 74,756,503 (GRCm39) N498K probably damaging Het
Fmn2 T A 1: 174,437,520 (GRCm39) probably null Het
Fndc3b T C 3: 27,521,579 (GRCm39) E532G probably damaging Het
Gabrb3 T C 7: 57,415,278 (GRCm39) L116P probably damaging Het
Galnt6 A T 15: 100,591,352 (GRCm39) probably null Het
Glmp G A 3: 88,232,391 (GRCm39) M1I probably null Het
Gm5478 T C 15: 101,552,761 (GRCm39) D79G probably damaging Het
Gnb1 T G 4: 155,636,140 (GRCm39) D153E probably benign Het
Grik2 T C 10: 49,116,821 (GRCm39) I86V probably damaging Het
Hdac3 C T 18: 38,074,005 (GRCm39) probably null Het
Hdgfl2 G A 17: 56,406,181 (GRCm39) R523H possibly damaging Het
Ifngr1 T A 10: 19,473,180 (GRCm39) N43K probably damaging Het
Iqgap1 A G 7: 80,401,678 (GRCm39) W476R probably benign Het
Jag1 A G 2: 136,937,365 (GRCm39) probably null Het
Kars1 T C 8: 112,734,848 (GRCm39) D46G probably benign Het
Kcnd2 A G 6: 21,216,682 (GRCm39) I129V probably damaging Het
Lama3 A C 18: 12,615,183 (GRCm39) D1369A probably damaging Het
Lars1 A T 18: 42,383,967 (GRCm39) V76E possibly damaging Het
Lgals9 T C 11: 78,854,274 (GRCm39) I337V probably damaging Het
Lrp1b T C 2: 40,741,723 (GRCm39) D3068G probably damaging Het
Med12l A G 3: 58,984,480 (GRCm39) T462A possibly damaging Het
Megf9 T A 4: 70,374,178 (GRCm39) D286V probably damaging Het
Meox1 T A 11: 101,770,227 (GRCm39) S167C probably damaging Het
Mier2 C T 10: 79,378,430 (GRCm39) probably null Het
Mrps2 C A 2: 28,359,791 (GRCm39) T216K probably damaging Het
Mto1 A T 9: 78,360,286 (GRCm39) D258V probably damaging Het
Mug1 A T 6: 121,826,801 (GRCm39) H208L probably benign Het
Myo15b T A 11: 115,775,091 (GRCm39) I751N probably damaging Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ndrg4 T A 8: 96,437,563 (GRCm39) M17K probably damaging Het
Nfrkb T G 9: 31,325,476 (GRCm39) M973R probably benign Het
Nxph4 C T 10: 127,362,780 (GRCm39) R37H probably damaging Het
Oas1e A G 5: 120,933,460 (GRCm39) I35T probably damaging Het
Oc90 C T 15: 65,769,514 (GRCm39) probably null Het
Or4b12 A T 2: 90,095,880 (GRCm39) M298K probably null Het
Or52d3 A T 7: 104,229,567 (GRCm39) D238V probably damaging Het
Or8j3 G A 2: 86,029,055 (GRCm39) L14F possibly damaging Het
Or8k30 A T 2: 86,339,549 (GRCm39) T249S probably benign Het
Or9a7 A T 6: 40,521,057 (GRCm39) N285K possibly damaging Het
Papola T A 12: 105,773,452 (GRCm39) I157N probably damaging Het
Pcyox1l G C 18: 61,830,964 (GRCm39) P303A possibly damaging Het
Pkdrej T C 15: 85,703,752 (GRCm39) N728S probably benign Het
Pkp4 A G 2: 59,148,873 (GRCm39) D542G probably damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Poln C T 5: 34,307,108 (GRCm39) R31H probably benign Het
Ppp3ca G A 3: 136,640,900 (GRCm39) A484T probably benign Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Pramel28 A T 4: 143,693,310 (GRCm39) V56E probably damaging Het
Prex2 G A 1: 11,270,281 (GRCm39) probably null Het
Prrc2b G T 2: 32,089,103 (GRCm39) W403L probably damaging Het
Pter A T 2: 13,005,748 (GRCm39) K307M probably damaging Het
Ptpn5 G A 7: 46,740,506 (GRCm39) S99L probably benign Het
Ptpn5 A C 7: 46,740,507 (GRCm39) S99A probably benign Het
Rpap1 A C 2: 119,602,321 (GRCm39) H674Q probably benign Het
Rph3a A T 5: 121,081,127 (GRCm39) D623E probably benign Het
Sdr9c7 G T 10: 127,734,588 (GRCm39) E25D probably benign Het
Septin9 T G 11: 117,247,458 (GRCm39) V479G probably damaging Het
Sgo2a A G 1: 58,055,856 (GRCm39) D680G probably benign Het
Sgo2b A T 8: 64,381,410 (GRCm39) I474N probably benign Het
Sgsm1 A T 5: 113,436,701 (GRCm39) I43N probably damaging Het
Shprh G A 10: 11,045,853 (GRCm39) M891I probably benign Het
Skic2 A T 17: 35,063,791 (GRCm39) Y551N possibly damaging Het
Slc12a9 A G 5: 137,321,108 (GRCm39) M469T probably damaging Het
Slc4a2 A T 5: 24,640,941 (GRCm39) I747F probably damaging Het
Slc7a6 T A 8: 106,921,149 (GRCm39) N373K probably damaging Het
Slc7a6os T C 8: 106,927,688 (GRCm39) D296G probably benign Het
Sncaip A G 18: 53,038,881 (GRCm39) T120A probably damaging Het
Sorcs1 G C 19: 50,301,480 (GRCm39) probably null Het
Spata16 A G 3: 26,721,605 (GRCm39) E42G probably damaging Het
Spata31e2 G T 1: 26,724,347 (GRCm39) Q278K possibly damaging Het
Syne2 A T 12: 76,009,415 (GRCm39) M2440L probably benign Het
Taf7l2 T C 10: 115,949,474 (GRCm39) I17M probably damaging Het
Tead2 A G 7: 44,875,179 (GRCm39) E232G probably damaging Het
Tmf1 T G 6: 97,153,465 (GRCm39) T203P possibly damaging Het
Trrap C A 5: 144,753,205 (GRCm39) H1843Q probably benign Het
Unc79 C A 12: 103,137,903 (GRCm39) Q2314K probably damaging Het
Unc80 G T 1: 66,550,040 (GRCm39) G766V probably damaging Het
Vmn1r217 A G 13: 23,298,764 (GRCm39) L46P probably damaging Het
Vmn2r80 A T 10: 78,984,773 (GRCm39) I42F possibly damaging Het
Vwa5a T C 9: 38,639,961 (GRCm39) V403A probably damaging Het
Zfp42 T C 8: 43,748,988 (GRCm39) E171G probably damaging Het
Zfp64 A T 2: 168,767,960 (GRCm39) S551T 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
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
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'- GCAACCCAATAGATCAGCCTGCTTA -3'
(R):5'- ATGTGCTATACACAGGAAGCCAAAAGAA -3'

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