|Institutional Source||Beutler Lab|
|Gene Name||ribonucleic acid export 1|
|Synonyms||D2Ertd342e, MNRP, MNRP41, 41|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7329 (G1)|
|Chromosomal Location||173000117-173015739 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 173009445 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 204 (F204I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029013 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029013] [ENSMUST00000132212]|
|Predicted Effect||probably benign
AA Change: F204I
PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: F204I
|Coding Region Coverage||
|Validation Efficiency||100% (78/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are embryonic lethal. Heterozygous mutant mice exhibit a mitotic checkpoint defect and chromosome missegregation as well as an increased incidence of chemically-induced lung tumors; however, no spontaneous tumor formation or signs of early aging are observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rae1||
(F):5'- GCTTCTCTAGGCTTTCACAAAC -3'
(R):5'- CCGGCTCAGTCATGCTTATGTC -3'
(F):5'- GGCTTTCACAAACACTTTGATATTGC -3'
(R):5'- CTCAGTCATGCTTATGTCAAACTATG -3'