|Institutional Source||Beutler Lab|
|Gene Name||nucleoporin 188|
|Is this an essential gene?||Probably essential (E-score: 0.951)|
|Stock #||R7998 (G1)|
|Chromosomal Location||30286397-30344266 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 30330971 bp|
|Amino Acid Change||Leucine to Proline at position 991 (L991P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065836 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064447]|
|Predicted Effect||probably damaging
AA Change: L991P
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: L991P
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nup188||
(F):5'- TCCAAGGTCAGCTGCACTTTG -3'
(R):5'- AAAAGACATCTAGGAGTCCCCG -3'
(F):5'- TGAAGCTGGGTGAGGGC -3'
(R):5'- ATCTAGGAGTCCCCGGTACTGAAC -3'