|Institutional Source||Beutler Lab|
|Gene Name||myozenin 1|
|Synonyms||2310001N11Rik, FATZ, calsarcin-2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7097 (G1)|
|Chromosomal Location||20649107-20656540 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 20649409 bp|
|Amino Acid Change||Isoleucine to Threonine at position 287 (I287T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000087955 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090469]|
|Predicted Effect||possibly damaging
AA Change: I287T
PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: I287T
|Coding Region Coverage||
|Validation Efficiency||99% (75/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body weight and fast-twitch muscle mass, a fiber type shift toward more oxidative fibers, increased exercise capacity and calcineurin activity, and enhanced muscle regeneration after cardiotoxin injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myoz1||
(F):5'- ACCGGTGGCAGAGAAAATTC -3'
(R):5'- AGAAGGCCTCCAAACGCATG -3'
(F):5'- CCATAAAAGAGCAGATTCCATATGG -3'
(R):5'- GACCTTCCAGATGCCCAAGTTTG -3'