|Institutional Source||Beutler Lab|
|Gene Name||endothelial differentiation-related factor 1|
|Synonyms||0610008L11Rik, hypothetical protein 1-9|
|Is this an essential gene?||Probably essential (E-score: 0.944)|
|Stock #||R8314 (G1)|
|Chromosomal Location||25557847-25562082 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 25557965 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 5 (D5G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015236 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015236]|
|Predicted Effect||probably damaging
AA Change: D5G
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: D5G
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Edf1||
(F):5'- GCAGATACCTGTGTTCCCTC -3'
(R):5'- ACCCTCGAAAGATCCGTTCG -3'
(F):5'- GGGTCCCCACTCTTTTTACTAAGG -3'
(R):5'- TCGAAAGATCCGTTCGGGTCC -3'