|Institutional Source||Beutler Lab|
|Gene Name||neuron navigator 3|
|Synonyms||POMFIL1, 9630020C08Rik, 4732483H20Rik, unc53H3, steerin 3, Pomfil1p|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7462 (G1)|
|Chromosomal Location||109681259-110456204 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 109823578 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 726 (V726E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032719 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032719]|
|Predicted Effect||probably damaging
AA Change: V726E
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: V726E
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nav3||
(F):5'- AGAGGCGTGGTATACATAAACCTG -3'
(R):5'- CCACATTTTGACACCAGCAGAG -3'
(F):5'- TGGTATACATAAACCTGGAGGGATCC -3'
(R):5'- TTGACACCAGCAGAGATATTTGG -3'