|Institutional Source||Beutler Lab|
|Gene Name||BUB1, mitotic checkpoint serine/threonine kinase|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2165 (G1)|
|Chromosomal Location||127801122-127831865 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 127801281 bp|
|Amino Acid Change||Isoleucine to Valine at position 1048 (I1048V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028858 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028858]|
|Predicted Effect||probably benign
AA Change: I1048V
PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
AA Change: I1048V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0594|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
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|
|Other mutations in this stock||
|Other mutations in Bub1||
(F):5'- ATTTAGAACAACTAGGTCACATGGG -3'
(R):5'- ACTCGTTGCTATGAACGTTAAGG -3'
(F):5'- TCACATGGGTATATCATATGGGC -3'
(R):5'- GAACGTTAAGGTTGCATTTTATCC -3'