|Institutional Source||Beutler Lab|
|Gene Name||empty spiracles homeobox 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5884 (G1)|
|Chromosomal Location||59458372-59465357 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 59464029 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 248 (D248E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053361 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062216] [ENSMUST00000174353]|
|Predicted Effect||probably damaging
AA Change: D248E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D248E
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||96% (66/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous disruption of this gene causes neonatal death, impaired urogenital development and malformation of several forebrain regions. Heterozygotes for a null allele show middle and inner ear defects. Homozygotes for an ENU-induced allele die neonatally with middle ear defects and small kidneys. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Emx2||
(F):5'- GTGACAGGCCTCTGGTATATGATAG -3'
(R):5'- TGTCCAAAGTCTGCTGCGAG -3'
(F):5'- GGATCTAAAGATGCCCACTTGTC -3'
(R):5'- GAGCGTCACTGCTCTGATTC -3'