|Institutional Source||Beutler Lab|
|Gene Name||nucleoporin 155|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R1421 (G1)|
|Chromosomal Location||8109273-8161247 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 8157760 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 1391 (H1391L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000128819 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000163765] [ENSMUST00000230017]|
AA Change: H1391L
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: H1391L
|Meta Mutation Damage Score||0.0878|
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E8.5. Mice homozygous for a gene trap allele exhibit atria fibrillation associated with shortened action potential duration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nup155||
(F):5'- GTCAATGAGTGACCTGAAGTCTTTCTCC -3'
(R):5'- GGGAACAGACCCAGCCTATAAGGTG -3'
(F):5'- GACCTGAAGTCTTTCTCCTTACAG -3'
(R):5'- TGGACCCAGCTGAGCTTTTA -3'