|Institutional Source||Beutler Lab|
|Gene Name||sarcoglycan, beta (dystrophin-associated glycoprotein)|
|Is this an essential gene?||Probably non essential (E-score: 0.175)|
|Stock #||R7647 (G1)|
|Chromosomal Location||73632749-73647790 bp(-) (GRCm38)|
|Type of Mutation||splice site (6 bp from exon)|
|DNA Base Change (assembly)||A to T at 73639377 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000079937 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081170]|
|Predicted Effect||probably null
|Coding Region Coverage||
|Validation Efficiency||100% (43/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit muscular dystrophy and cardiomyopathy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sgcb||
(F):5'- AACTGCACATGCTCTGAAAGAAATG -3'
(R):5'- TAGTCCAGAGTTGAGACACCC -3'
(F):5'- TTCCACATACTACTCCACAT -3'
(R):5'- GAGTTGAGACACCCCCTTC -3'