|Institutional Source||Beutler Lab|
|Gene Name||NSL1, MIS12 kinetochore complex component|
|Is this an essential gene?||Probably essential (E-score: 0.938)|
|Stock #||R0054 (G1)|
|Chromosomal Location||191063012-191086474 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 191082184 bp|
|Amino Acid Change||Leucine to Proline at position 194 (L194P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077380 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078259]|
|Predicted Effect||probably damaging
AA Change: L194P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L194P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nsl1||
(F):5'- TGGGAATGAGCCACGTCTTCTGAG -3'
(R):5'- AGGCATCAGACTGTGACCCAAATG -3'
(F):5'- GCCACGTCTTCTGAGTCTGAG -3'
(R):5'- CTTTAGCACAATGTCGGAGGC -3'