|Institutional Source||Beutler Lab|
|Gene Name||nuclear RNA export factor 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1678 (G1)|
|Chromosomal Location||136072099-136085255 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 136075521 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 407 (D407G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079730 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080929] [ENSMUST00000138878]|
|Predicted Effect||probably damaging
AA Change: D407G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D407G
|Predicted Effect||probably benign
|Coding Region Coverage||
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'- TGCACATCCAGGTCAGGAAGCAAG -3'
(R):5'- TAGGCACAATCACGGATGCCAGAG -3'
(F):5'- GGATTCTACAAGCACTCACCTTC -3'
(R):5'- ATGCCAGAGGTTAAGGTTCC -3'