|Institutional Source||Beutler Lab|
|Gene Name||importin 7|
|Synonyms||A330055O14Rik, Imp7, RanBP7|
|Is this an essential gene?||Probably essential (E-score: 0.946)|
|Stock #||R6776 (G1)|
|Chromosomal Location||110018274-110056609 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 110047065 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 557 (D557G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081782 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084731] [ENSMUST00000208951]|
|Predicted Effect||probably damaging
AA Change: D557G
PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: D557G
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ipo7||
(F):5'- AGGTATGTCACAGACACCTTTAC -3'
(R):5'- TTTGAGGGAAGGCAAGTCAC -3'
(F):5'- CACCTTTACACACAACTGTTAAATGG -3'
(R):5'- GGCAAGTCACTTGTGACATAC -3'