|Institutional Source||Beutler Lab|
|Gene Name||karyopherin (importin) beta 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7678 (G1)|
|Chromosomal Location||97159714-97187881 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 97169173 bp|
|Amino Acid Change||Arginine to Glutamine at position 557 (R557Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001479 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001479]|
N-TERMINAL FRAGMENT OF IMPORTIN-BETA [X-RAY DIFFRACTION]
Crystal structure of Importin-beta and SREBP-2 complex [X-RAY DIFFRACTION]
|Predicted Effect||probably damaging
AA Change: R557Q
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: R557Q
|Meta Mutation Damage Score||0.3521|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after implantation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kpnb1||
(F):5'- TCTGCAATGTAACAGGGAGC -3'
(R):5'- ATGTCTCTGAACTGCATCCC -3'
(F):5'- CAGCACGCTGAGAGCTTTTTG -3'
(R):5'- TGAACTGCATCCCCAACCTCTG -3'