|Institutional Source||Beutler Lab|
|Gene Name||myogenic factor 6|
|Synonyms||bHLHc4, MRF4, herculin|
|Is this an essential gene?||Probably essential (E-score: 0.905)|
|Stock #||R5601 (G1)|
|Chromosomal Location||107492853-107494737 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 107494614 bp|
|Amino Acid Change||Serine to Alanine at position 31 (S31A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047529 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044210]|
|Predicted Effect||probably damaging
AA Change: S31A
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: S31A
|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 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'- TGCTTTCCGACGATCTGTGG -3'
(R):5'- AGCTGGGTCGACTTATGTCAC -3'
(F):5'- GGGGCAGATTTTCTCTTGCAAGTC -3'
(R):5'- CCGCACTAATTAAATGCCATCTGGG -3'