|Institutional Source||Beutler Lab|
|Gene Name||obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF|
|Is this an essential gene?||Probably essential (E-score: 0.824)|
|Stock #||R7269 (G1)|
|Chromosomal Location||58994256-59136402 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 59043012 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 5342 (E5342G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049737 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020732] [ENSMUST00000047441] [ENSMUST00000052872]|
AA Change: E5497G
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: E5342G
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: E5342G
|Meta Mutation Damage Score||0.3127|
|Coding Region Coverage||
|Validation Efficiency||98% (85/87)|
FUNCTION: The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 800 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein is one of three giant sacromeric signaling proteins that includes titin and nebulin. It may have a role in the organization of myofibrils during assembly and also may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been described although the full-length nature is not known for all splicing variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit centrally localized nuclei in muscle fibers and mild myopathy in aged mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Obscn||
(F):5'- TTACCCAACACAGAGAGGCG -3'
(R):5'- ATTCTGAGACACCTCCAACTTGAG -3'
(F):5'- CAACACAGAGAGGCGTGCAG -3'
(R):5'- CCAACTTGAGGCTGGGTTGAAG -3'