|Institutional Source||Beutler Lab|
|Gene Name||nucleolar protein family 6 (RNA-associated)|
|Is this an essential gene?||Probably essential (E-score: 0.962)|
|Stock #||R2495 (G1)|
|Chromosomal Location||41114427-41124455 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 41118427 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 791 (D791E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030138 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030138]|
AA Change: D791E
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: D791E
|Meta Mutation Damage Score||0.6666|
|Coding Region Coverage||
|Validation Efficiency||98% (63/64)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nol6||
(F):5'- ATCCTGTGGAGAGATGTGGC -3'
(R):5'- ATGACTGGTAAGAGGGTCCTTG -3'
(F):5'- TGTGGCAAAGGAAATGAATGTC -3'
(R):5'- GCTGCGGAATCAGATCTCTCAC -3'