|Institutional Source||Beutler Lab|
|Gene Name||internexin neuronal intermediate filament protein, alpha|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0086 (G1)|
|Chromosomal Location||47014698-47025327 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 47023591 bp|
|Amino Acid Change||Threonine to Alanine at position 483 (T483A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041347 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037636]|
|Predicted Effect||possibly damaging
AA Change: T483A
PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: T483A
|Coding Region Coverage||
|Validation Efficiency||96% (91/95)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous mice are healthy and viable, and do not exhibit any obvious abnormalities; no defects in the nervous system were detected, including brain development, axon outgrowth, or guidance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ina||
(F):5'- TTTAGCACCGGCGGGTTAAGCATC -3'
(R):5'- ATGACGCTGAAGCCTTGCAGAC -3'
(F):5'- TCGGGGCTGAATCCACTG -3'
(R):5'- AGCCTTGCAGACATTCTATAGCG -3'