|Institutional Source||Beutler Lab|
|Gene Name||nuclear RNA export factor 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3847 (G1)|
|Chromosomal Location||136072099-136085255 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 136073983 bp|
|Amino Acid Change||Valine to Isoleucine at position 474 (V474I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079730 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080929]|
|Predicted Effect||probably benign
AA Change: V474I
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: V474I
|Meta Mutation Damage Score||0.1512|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and male reproductive system morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nxf3||
(F):5'- GAAGAAGTGAAGTCTGTATGTTCCC -3'
(R):5'- TAGACAGTCTCCAACAGTGTACTCAC -3'
(F):5'- GAAGTCTGTATGTTCCCATAACTCAC -3'
(R):5'- GTACTCACTCTATAGATAACCAGGGG -3'