|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly essential (E-score: 0.720)|
|Stock #||R7533 (G1)|
|Chromosomal Location||52136647-52378474 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 52224566 bp (GRCm38)|
|Amino Acid Change||Alanine to Valine at position 1048 (A1048V)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028320] [ENSMUST00000036934] [ENSMUST00000075301]|
|AlphaFold||no structure available at present|
AA Change: A4227V
PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: A4227V
AA Change: A1048V
|Coding Region Coverage||
|Validation Efficiency||100% (36/36)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Neb||
(F):5'- TGACTTCAGCCCAAGATAAAGC -3'
(R):5'- CCATTGGTACTACTGGATGCTTAGC -3'
(F):5'- CTTCAGCCCAAGATAAAGCATGATTG -3'
(R):5'- GAGGTTTCCTCTACTACAAAGTAAAC -3'