|Institutional Source||Beutler Lab|
|Gene Name||nascent polypeptide-associated complex alpha polypeptide|
|Is this an essential gene?||Probably essential (E-score: 0.803)|
|Stock #||R3276 (G1)|
|Chromosomal Location||128035575-128048637 bp(+) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||T to C at 128040661 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000073532 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000073868] [ENSMUST00000092048]|
|Predicted Effect||probably benign
AA Change: S521P
AA Change: S521P
|Meta Mutation Damage Score||0.266|
|Coding Region Coverage||
|Validation Efficiency||96% (47/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a point mutation exhibit decreased bone volume and bone formation associated with accelerated mineralization and immature woven-bone formation. Mice null for the muscle specific isoform die during organogenesis with cardiac abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Naca||
(F):5'- TAAAGACCCAGCTTCCCCTG -3'
(R):5'- GCTGACACAAGAATCTGCCC -3'
(F):5'- GTCGTACCTGCTGCTCACAAG -3'
(R):5'- GAATCTGCCCTGATGACAGCAG -3'