|Institutional Source||Beutler Lab|
|Gene Name||E26 avian leukemia oncogene 2, 3' domain|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3915 (G1)|
|Chromosomal Location||95702407-95721045 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 95718993 bp|
|Amino Acid Change||Arginine to Histidine at position 421 (R421H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023612 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023612]|
|Predicted Effect||probably damaging
AA Change: R421H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R421H
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9700|
|Coding Region Coverage||
|Validation Efficiency||98% (43/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defective trophoblast formation and die by embryonic day 8.5, but tetraploid chimeric rescue results in viable and fertile mutants with wavy hair. Mammary tumors induced in carriers are reduced in size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ets2||
(F):5'- ACTGAACATCTGTCGGTCCCAG -3'
(R):5'- CTTTGGAGCAAGTGGGTCAG -3'
(F):5'- CCCAGTGACAGTCAGGTTTTTCAG -3'
(R):5'- ACGGGCTTCCCACTCAGTC -3'