|Institutional Source||Beutler Lab|
|Gene Name||nucleoporin 214|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7114 (G1)|
|Chromosomal Location||31974436-32053975 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 32025244 bp|
|Amino Acid Change||Serine to Proline at position 1147 (S1147P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066492 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065398]|
|Predicted Effect||possibly damaging
AA Change: S1147P
PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: S1147P
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Embryos homozygous for a null mutation die between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product. In vitro, cultured 3.5-dpc mutant embryos arrest in the G2 phase, and show blastocoel contraction with defects in NLS-mediated protein import and polyadenylated RNA export. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nup214||
(F):5'- AGTTAACAAGGTCATTGGCTTG -3'
(R):5'- GTCAGGACTGGCATGAGTTATG -3'
(F):5'- GTCCAAGACATCTGTATGC -3'
(R):5'- TGGAAAAGAAGTGTCAGCCCTTTC -3'