|Institutional Source||Beutler Lab|
|Gene Name||syntrophin, basic 1|
|Synonyms||59-1 DAP, beta1-Syntrophin|
|Is this an essential gene?||Probably non essential (E-score: 0.073)|
|Stock #||R6159 (G1)|
|Chromosomal Location||55636388-55906949 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to G at 55676302 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000041294 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039769] [ENSMUST00000039769]|
|Meta Mutation Damage Score||0.9489|
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sntb1||
(F):5'- TTCCTAAGTTCCAGGGAGTCC -3'
(R):5'- CTTATAGAAGGGTTGCTGATGTCTC -3'
(F):5'- TCCTGGAACCAAGATGGCGAC -3'
(R):5'- AGAAGGGTTGCTGATGTCTCTTTTC -3'