|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0013 (G1)|
|Chromosomal Location||134289989-134292548 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 134290235 bp|
|Amino Acid Change||Histidine to Glutamine at position 60 (H60Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027730 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027730]|
|Predicted Effect||probably damaging
AA Change: H60Q
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: H60Q
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||94% (79/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a severe reduction in muscle mass associated with delayed primary myogenesis and very little secondary myofiber formation, defects of the thoracic skeleton, and perinatal death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myog||
(F):5'- GGAACAAGCCTTTTCCGACCTGATG -3'
(R):5'- CTGTAGGCGCTCAATGTACTGGATG -3'
(F):5'- TGGAGCTGTATGAGACATCCC -3'
(R):5'- CAGGATCTCCACTTTAGGCAG -3'