|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4904 (G1)|
|Chromosomal Location||162639155-162649693 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 162639425 bp|
|Amino Acid Change||Methionine to Isoleucine at position 54 (M54I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028020 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028020]|
|Predicted Effect||probably benign
AA Change: M54I
PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: M54I
|Meta Mutation Damage Score||0.0878|
|Coding Region Coverage||
|Validation Efficiency||94% (82/87)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile and display no ocular abnormalities at the light and ultrastructural microscopic levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myoc||
(F):5'- ACCTTGCAGGAGAACTTTCC -3'
(R):5'- TTATAGGCTGCCTCCAGATCC -3'
(F):5'- CCTTGCAGGAGAACTTTCCAGAAG -3'
(R):5'- CCTGGTTTGGGTCTCCAGC -3'