|Institutional Source||Beutler Lab|
|Gene Name||myogenic factor 6|
|Synonyms||bHLHc4, MRF4, herculin|
|Is this an essential gene?||Probably essential (E-score: 0.877)|
|Stock #||R6705 (G1)|
|Chromosomal Location||107492853-107494737 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 107493829 bp|
|Amino Acid Change||Valine to Methionine at position 198 (V198M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047529 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044210]|
|Predicted Effect||possibly damaging
AA Change: V198M
PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: V198M
|Meta Mutation Damage Score||0.0635|
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
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'- AGCTCTTTGTGCTCAGCCAG -3'
(R):5'- AATGCAGTCTGGCCCAAGAAAG -3'
(F):5'- TCAGCCAGAGCACTCCTGTG -3'
(R):5'- TCTGGCCCAAGAAAGCAGGG -3'