|Institutional Source||Beutler Lab|
|Gene Name||dystrophin, muscular dystrophy|
|Synonyms||Dp71, mdx, X-linked muscular dystrophy, Dp427, Duchenne muscular dystrophy, pke, dys|
|Is this an essential gene?||Probably essential (E-score: 0.884)|
|Stock #||R2118 (G1)|
|Chromosomal Location||82948870-85206141 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 84312483 bp|
|Amino Acid Change||Alanine to Proline at position 2257 (A2257P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109633 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114000]|
|Predicted Effect||probably benign
AA Change: A2257P
PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: A2257P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1004|
|Coding Region Coverage||
|Validation Efficiency||100% (90/90)|
FUNCTION: This gene encodes a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers in skeletal and cardiac muscles. The encoded protein, dystrophin, is part of the dystrophin-glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. This protein is required for proper development and organization of myofibers as contractile units in striated muscles. Mutations in the human gene cause Duchenne and Becker Muscular Dystrophies and a form of heart disease called DMD-associated dilated cardiomyopathy. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations in this gene cause muscular dystrophy. Phenotypic variation has been observed in different backgrounds. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dmd||
(F):5'- TTCAGCCCATCAGCTCTGTG -3'
(R):5'- AAGAATAATCCACCCTTCTGCTTC -3'
(F):5'- GCTCTGTGCTCTGTGGAAG -3'
(R):5'- GTTGCAACACTTAGCACATGTGAC -3'