|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly essential (E-score: 0.542)|
|Stock #||R6985 (G1)|
|Chromosomal Location||75360329-75368579 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 75366787 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 438 (E438G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027409 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027409]|
|Predicted Effect||possibly damaging
AA Change: E438G
PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: E438G
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane and are essential for maintaining the strength and integrity of skeletal, cardiac and smooth muscle fibers. Mutations in this gene affect assembly of intermediate filaments. Mice lacking this gene are able to develop and reproduce but exhibit abnormal muscle fibers. Mutations in the human gene are associated with myofibrillar myopathy, dilated cardiomyopathy, neurogenic scapuloperoneal syndrome and autosomal recessive limb-girdle muscular dystrophy, type 2R. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Des||
(F):5'- GGTCTCAAAGAAGTCAGACAGTTG -3'
(R):5'- TGTGTAGCCTCGCTGACAAC -3'
(F):5'- TTGTCATAAGAAAGGTGAAAGTCAGC -3'
(R):5'- ATCCACTGCTGGCTTAGAAG -3'