|Institutional Source||Beutler Lab|
|Gene Name||kinetochore scaffold 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0827 (G1)|
|Chromosomal Location||119047119-119105501 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 119088901 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000097140 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028802] [ENSMUST00000099542]|
|Coding Region Coverage||
|Validation Efficiency||100% (88/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. Mice homozygous for an ENU-induced allele exhibit possible embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Knl1||
(F):5'- GCCTGTGTCCATCTGATCACAGAAA -3'
(R):5'- AGCTGCTAAGACAGCATAGTAAGACCA -3'
(F):5'- cacaagttcagcatcagcc -3'
(R):5'- GACAGCATAGTAAGACCAAACTTTC -3'