|Institutional Source||Beutler Lab|
|Gene Name||leiomodin 3 (fetal)|
|Is this an essential gene?||Probably non essential (E-score: 0.110)|
|Stock #||R5905 (G1)|
|Chromosomal Location||97238534-97252759 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 97247614 bp|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 415 (E415D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093315 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095655]|
|Predicted Effect||probably damaging
AA Change: E415D
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: E415D
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for an endonuclease-mediated mutation are runted and exhibit nemaline myopathy including a reduction in skeletal myofiber size, centrally nucleated skeletal muscle fibers, increase in skeletal muscle glycogen levels, and abnormal sarcomere and Z lines. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lmod3||
(F):5'- TCCTTTCTTGAACCAAAGGGG -3'
(R):5'- CCTCCAGTTCAATGAAACGC -3'
(F):5'- AGGGGACTTCCTGAGCATC -3'
(R):5'- TGAAACGCTAACTGAACTTCGG -3'