|Institutional Source||Beutler Lab|
|Gene Name||RAN binding protein 17|
|Is this an essential gene?||Possibly essential (E-score: 0.725)|
|Stock #||R3721 (G1)|
|Chromosomal Location||33211795-33513746 bp(-) (GRCm38)|
|Type of Mutation||small deletion (4 aa in frame mutation)|
|DNA Base Change (assembly)||GCCTGGATACTGACC to GCC at 33219203 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000099879 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102815]|
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0612|
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ranbp17||
(F):5'- GCTCAGAACTGCCTTAGAATGG -3'
(R):5'- TGCCATCAGAAAGGTGGCAG -3'
(F):5'- CTGCCTTAGAATGGCAAGGC -3'
(R):5'- CATCAGAAAGGTGGCAGGATGG -3'