|Institutional Source||Beutler Lab|
|Gene Name||myogenic factor 6|
|Synonyms||bHLHc4, MRF4, herculin|
|Is this an essential gene?||Probably essential (E-score: 0.812)|
|Stock #||R7024 (G1)|
|Chromosomal Location||107492853-107494737 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 107494529 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 59 (E59G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047529 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044210]|
|Predicted Effect||probably damaging
AA Change: E59G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E59G
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for targeted mutations exhibit variable rib abnormalities, abnormal intercostal muscle morphology, reduced expression of Myf5, and postnatal mortality proportional to the severity of the rib defect. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myf6||
(F):5'- AGAATCTCCACCTTGGGCAG -3'
(R):5'- CAGATCAGTCAGAGGCCAAG -3'
(F):5'- ACAGTCCGACGCTTCAGG -3'
(R):5'- GAGAACATGATGATGGACCTTTTTG -3'