|Institutional Source||Beutler Lab|
|Gene Name||karyopherin (importin) alpha 3|
|Is this an essential gene?||Possibly essential (E-score: 0.611)|
|Stock #||R2107 (G1)|
|Chromosomal Location||61365211-61439874 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 61370484 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 424 (D424G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022496 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022496]|
|Predicted Effect||possibly damaging
AA Change: D424G
PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: D424G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7181|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
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'- TGCCCATGTGAATAAGACCAG -3'
(R):5'- TACTAATTTCAGCAAGGGCCCTTC -3'
(F):5'- GCAACATACTCTGACCAGTGTG -3'
(R):5'- CAAGGGCCCTTCTTATTTTTGTAAG -3'