|Institutional Source||Beutler Lab|
|Gene Name||karyopherin (importin) alpha 3|
|Is this an essential gene?||Possibly essential (E-score: 0.730)|
|Stock #||R8896 (G1)|
|Chromosomal Location||61365211-61439874 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 61391845 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 39 (N39D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022496 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022496]|
|Predicted Effect||probably benign
AA Change: N39D
PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: N39D
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kpna3||
(F):5'- GGATTATCACTTGTGGCATTCTGC -3'
(R):5'- CCCCAGGTAAACCCTTATAGTG -3'
(F):5'- TCAGGTAATGATTTAACATGCCTTG -3'
(R):5'- AACCCTTATAGTGTTGGTCAGGACAG -3'