|Institutional Source||Beutler Lab|
|Gene Name||GLE1 RNA export mediator (yeast)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0839 (G1)|
|Chromosomal Location||29935426-29960371 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 29958450 bp|
|Amino Acid Change||Cysteine to Serine at position 679 (C679S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019859 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019859]|
|Predicted Effect||probably benign
AA Change: C679S
PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: C679S
|Predicted Effect||noncoding transcript
|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 predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gle1||
(F):5'- AGGTAGTCCACTGATAGCCAGCTTC -3'
(R):5'- TCTGTCTGTGACGCCAACACAAC -3'
(F):5'- TGCCAAATGAGGCTATGCTC -3'
(R):5'- AAGCCTTATTCATGGGGTACAG -3'