|Institutional Source||Beutler Lab|
|Gene Name||Ets2 repressor factor|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0032 (G1) of strain 731|
|Chromosomal Location||25242561-25250761 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 25245075 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 277 (Y277C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041912 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045847] [ENSMUST00000116343]|
|Predicted Effect||possibly damaging
AA Change: Y277C
PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: Y277C
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.162|
|Coding Region Coverage||
|Validation Efficiency||100% (89/89)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality around E10.5, reduced size, brain hypoplasia, defects in extraembryonic tissue formation affecting the chorion, allantois, placental labyrinth and umbilical cord, and increase in apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Erf||
(F):5'- TGCAGCTTAAACTTGAACGGGGATG -3'
(R):5'- CAACACCCTCTGAGGTGCTGTC -3'
(F):5'- ggggatgaagaggaggaagag -3'
(R):5'- CTGTAGTGATGGCACCTCAGAG -3'