|Institutional Source||Beutler Lab|
|Gene Name||BUB1B, mitotic checkpoint serine/threonine kinase|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0378 (G1)|
|Chromosomal Location||118598211-118641591 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 118641123 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 988 (V988E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037126 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038341]|
|Predicted Effect||probably benign
AA Change: V988E
PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: V988E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.164|
|Coding Region Coverage||
|Validation Efficiency||95% (40/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant embryos undergo extensive apoptosis and die during early gestation. Heterozygous mice are viable and exhibit splenomegaly, abnormal megakaryopoiesis, and an increased susceptibility to intestinal tumorigenesis. Hypomorphic homozygotes display infertility and premature aging. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bub1b||
(F):5'- TCCCTGTGCCTTCAAGAGTGTTTG -3'
(R):5'- AAGCTGTGCTACTGAGAGTGACCC -3'
(F):5'- CCTTCAAGAGTGTTTGAATGATCTCC -3'
(R):5'- CCCTAGTGAAGGACTGCTGATG -3'