|Institutional Source||Beutler Lab|
|Gene Name||endoplasmic reticulum aminopeptidase 1|
|Synonyms||ERAAP, Arts1, PILSAP|
|Is this an essential gene?||Probably non essential (E-score: 0.202)|
|Stock #||R4247 (G1)|
|Chromosomal Location||74639568-74693201 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 74675295 bp|
|Amino Acid Change||Isoleucine to Threonine at position 816 (I816T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000133166 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000169114] [ENSMUST00000222127]|
|Predicted Effect||probably damaging
AA Change: I816T
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: I816T
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.272|
|Coding Region Coverage||
|Validation Efficiency||98% (41/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a targeted mutation may exhibit extramedullary hematopoiesis of the spleen, thymus hyperplasia, or enlarged kidneys at older ages. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Erap1||
(F):5'- AGTGGGTTTATCAAGACACTACC -3'
(R):5'- ATCCAGATGCAAGCGTTAGAAG -3'
(F):5'- GACACTACCAATTTACCTTTGAGGAC -3'
(R):5'- CCAGATGCAAGCGTTAGAAGTCAAC -3'