|Institutional Source||Beutler Lab|
|Gene Name||nuclear prelamin A recognition factor|
|Is this an essential gene?||Probably non essential (E-score: 0.095)|
|Stock #||R0542 (G1)|
|Chromosomal Location||121237253-121255856 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 121252864 bp|
|Amino Acid Change||Leucine to Proline at position 444 (L444P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099304 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103015]|
|Predicted Effect||probably damaging
AA Change: L444P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L444P
|Meta Mutation Damage Score||0.28|
|Coding Region Coverage||
|Validation Efficiency||99% (70/71)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Narf||
(F):5'- TATGTGCCCTGAGGTAAAGCTCCC -3'
(R):5'- AGCACCACATGAAAACTGTGTCCTG -3'
(F):5'- TGAGGTAAAGCTCCCATGAC -3'
(R):5'- CATGAAAACTGTGTCCTGAAGCG -3'