Incidental Mutation 'R2508:Bub1'
ID 251456
Institutional Source Beutler Lab
Gene Symbol Bub1
Ensembl Gene ENSMUSG00000027379
Gene Name BUB1, mitotic checkpoint serine/threonine kinase
Synonyms D2Xrf87, Bub1a
MMRRC Submission 040414-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2508 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 127643036-127673785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127643343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1000 (D1000E)
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: D1000E

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: D1000E

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik C T 8: 120,872,132 (GRCm39) T20I probably benign Het
Adamts2 C T 11: 50,679,516 (GRCm39) T832I possibly damaging Het
Agbl1 G A 7: 76,239,298 (GRCm39) probably null Het
Ankrd61 T C 5: 143,833,894 (GRCm39) probably benign Het
Anpep T G 7: 79,488,039 (GRCm39) Y506S possibly damaging Het
Aox1 T A 1: 58,382,832 (GRCm39) H1037Q probably benign Het
Auh G A 13: 53,052,755 (GRCm39) R47* probably null Het
B4galt5 T A 2: 167,148,558 (GRCm39) M187L probably benign Het
Cacna1f T G X: 7,492,687 (GRCm39) probably null Het
Cdh3 T C 8: 107,279,039 (GRCm39) L667P probably damaging Het
Cenpe A T 3: 134,946,834 (GRCm39) R1116S possibly damaging Het
Ces1b T A 8: 93,799,969 (GRCm39) M136L possibly damaging Het
Cfap54 T C 10: 92,833,236 (GRCm39) E1130G possibly damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clu T C 14: 66,212,452 (GRCm39) V135A probably damaging Het
Cmip T A 8: 118,163,432 (GRCm39) S388T probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cox4i1 T A 8: 121,400,029 (GRCm39) V51E possibly damaging Het
Crym T C 7: 119,801,050 (GRCm39) N33S probably benign Het
Ctcf T A 8: 106,398,016 (GRCm39) V434E probably damaging Het
Daam1 G A 12: 72,021,997 (GRCm39) D732N probably damaging Het
Dcaf13 A G 15: 39,008,547 (GRCm39) Y383C probably benign Het
Dock2 T C 11: 34,262,485 (GRCm39) T957A probably benign Het
Duox1 A G 2: 122,163,619 (GRCm39) D817G probably benign Het
Eif1ad16 T C 12: 87,985,258 (GRCm39) Y95C probably damaging Het
Fads3 A G 19: 10,033,818 (GRCm39) Y401C probably damaging Het
Fam72a T C 1: 131,456,592 (GRCm39) probably null Het
Fbxw21 C A 9: 108,974,553 (GRCm39) K322N probably benign Het
Fdxr G A 11: 115,162,806 (GRCm39) T100I probably damaging Het
Galnt11 C G 5: 25,452,610 (GRCm39) P41A probably damaging Het
Glb1l T C 1: 75,178,473 (GRCm39) T322A probably damaging Het
Gm6871 T A 7: 41,197,414 (GRCm39) T149S probably benign Het
Gpr26 C T 7: 131,568,823 (GRCm39) T56I probably damaging Het
Grik4 C A 9: 42,533,438 (GRCm39) G361C probably damaging Het
Gsr T G 8: 34,170,316 (GRCm39) D200E probably benign Het
Igsf5 T A 16: 96,165,247 (GRCm39) D7E probably benign Het
Inpp5e T A 2: 26,289,355 (GRCm39) I522F probably damaging Het
Insm2 C A 12: 55,647,096 (GRCm39) T280K probably benign Het
Itih4 T C 14: 30,617,435 (GRCm39) V585A probably damaging Het
Katnip T A 7: 125,394,515 (GRCm39) V197D probably benign Het
Knl1 A T 2: 118,888,849 (GRCm39) R17* probably null Het
Lag3 G T 6: 124,888,272 (GRCm39) L15I possibly damaging Het
Lepr T A 4: 101,648,093 (GRCm39) S861T probably damaging Het
Mcur1 A T 13: 43,697,941 (GRCm39) Y320N probably damaging Het
Mgam A T 6: 40,736,717 (GRCm39) D872V probably damaging Het
Mlycd T C 8: 120,134,446 (GRCm39) probably null Het
Mpl C A 4: 118,312,954 (GRCm39) C193F probably damaging Het
Mycbp2 C A 14: 103,368,681 (GRCm39) A4142S probably damaging Het
Myh1 T A 11: 67,104,424 (GRCm39) D993E possibly damaging Het
N4bp2 T A 5: 65,947,404 (GRCm39) D11E probably benign Het
Neb T C 2: 52,085,533 (GRCm39) I1521V probably benign Het
Notch1 A G 2: 26,355,485 (GRCm39) V1744A possibly damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or4p20 T C 2: 88,253,800 (GRCm39) T190A possibly damaging Het
Or6c66 T A 10: 129,461,784 (GRCm39) I49L probably benign Het
Or8k23 A G 2: 86,186,708 (GRCm39) L6P possibly damaging Het
Otogl A G 10: 107,710,361 (GRCm39) L576P probably damaging Het
P2ry1 C T 3: 60,910,900 (GRCm39) T13M probably damaging Het
Pak6 A T 2: 118,525,050 (GRCm39) R559* probably null Het
Parvb A T 15: 84,182,171 (GRCm39) M234L probably benign Het
Pcdha11 T C 18: 37,145,907 (GRCm39) V666A possibly damaging Het
Pde3b T A 7: 114,126,092 (GRCm39) Y775* probably null Het
Pgam5 A G 5: 110,413,869 (GRCm39) L98P probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pkib T G 10: 57,604,205 (GRCm39) D4E probably damaging Het
Plcb1 A T 2: 135,102,428 (GRCm39) I202F probably benign Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Prdm1 T A 10: 44,322,803 (GRCm39) T249S probably benign Het
Prpf39 T A 12: 65,104,589 (GRCm39) F551L probably benign Het
Prune2 A G 19: 17,099,986 (GRCm39) E1830G probably benign Het
Ralgapa1 G A 12: 55,764,986 (GRCm39) P889S probably damaging Het
Rassf2 A T 2: 131,840,163 (GRCm39) probably null Het
Rnf185 A G 11: 3,368,067 (GRCm39) Y204H probably benign Het
Rpap1 A G 2: 119,610,535 (GRCm39) probably null Het
Rufy3 T C 5: 88,797,757 (GRCm39) S645P probably damaging Het
Scn11a T A 9: 119,594,595 (GRCm39) Y1266F probably damaging Het
Senp7 T A 16: 55,971,725 (GRCm39) H287Q probably benign Het
Sgsm3 T C 15: 80,888,073 (GRCm39) probably null Het
Slc25a11 A T 11: 70,536,658 (GRCm39) V104E possibly damaging Het
Slc25a13 G A 6: 6,117,190 (GRCm39) T175I probably benign Het
Slc26a3 T A 12: 31,520,902 (GRCm39) F702Y probably damaging Het
Smco2 T A 6: 146,761,465 (GRCm39) L184H probably damaging Het
Ssc4d A T 5: 135,994,461 (GRCm39) C90S probably damaging Het
Sspo T C 6: 48,441,298 (GRCm39) S1835P probably damaging Het
Stk35 A G 2: 129,643,435 (GRCm39) T140A probably damaging Het
Syngr1 C T 15: 79,995,941 (GRCm39) T160M probably damaging Het
Tent2 A G 13: 93,320,726 (GRCm39) L109S probably damaging Het
Tgfb1i1 A G 7: 127,848,085 (GRCm39) probably null Het
Thoc1 T A 18: 9,977,947 (GRCm39) V296E probably damaging Het
Timp2 C T 11: 118,201,412 (GRCm39) C75Y probably damaging Het
Tlr1 T C 5: 65,082,639 (GRCm39) Y646C probably damaging Het
Tprn G A 2: 25,158,940 (GRCm39) E655K possibly damaging Het
Trbv14 A C 6: 41,112,424 (GRCm39) I74L probably benign Het
Trbv5 T A 6: 41,039,555 (GRCm39) Y53* probably null Het
Trpm5 T C 7: 142,642,656 (GRCm39) Q97R possibly damaging Het
Tut1 A G 19: 8,932,931 (GRCm39) D88G probably damaging Het
Ucp2 A T 7: 100,147,620 (GRCm39) I200F probably benign Het
Unc45a G A 7: 79,988,623 (GRCm39) S131L probably benign Het
Uty A T Y: 1,158,182 (GRCm39) H573Q probably damaging Het
Vmn1r17 T A 6: 57,337,855 (GRCm39) Y121F possibly damaging Het
Vmn1r53 T C 6: 90,200,554 (GRCm39) I257V probably benign Het
Vmn2r90 C T 17: 17,954,229 (GRCm39) L798F probably damaging Het
Vmn2r94 A T 17: 18,477,736 (GRCm39) M225K probably benign Het
Wdr24 A T 17: 26,043,273 (GRCm39) I32F possibly damaging Het
Zc3h11a T A 1: 133,552,521 (GRCm39) T529S probably benign Het
Zc3h4 A G 7: 16,168,264 (GRCm39) H791R unknown Het
Zfp24 A G 18: 24,150,927 (GRCm39) L73P probably damaging Het
Zfp616 T C 11: 73,974,121 (GRCm39) I130T probably benign Het
Zim1 ACAGCAG ACAGCAGCAG 7: 6,680,429 (GRCm39) probably benign Het
Zim1 CAG CAGAAG 7: 6,680,430 (GRCm39) 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
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'- GTCACATGGGTATATCATATGGGC -3'
(R):5'- GTCACATATGTATGCAGTTGAGC -3'

Sequencing Primer
(F):5'- ACTAAGTGTGTTTTGGAGAAGGTC -3'
(R):5'- GCAGTTGAGCTTATTAAAAACCAG -3'
Posted On 2014-12-04