Incidental Mutation 'R6112:Erap1'
ID 484922
Institutional Source Beutler Lab
Gene Symbol Erap1
Ensembl Gene ENSMUSG00000021583
Gene Name endoplasmic reticulum aminopeptidase 1
Synonyms Arts1, PILSAP, ERAAP
MMRRC Submission 044261-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R6112 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 74787692-74841324 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 74794398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 19 (W19L)
Ref Sequence ENSEMBL: ENSMUSP00000152462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169114] [ENSMUST00000221526] [ENSMUST00000221822]
AlphaFold Q9EQH2
Predicted Effect probably benign
Transcript: ENSMUST00000169114
AA Change: W19L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: W19L

DomainStartEndE-ValueType
Pfam:Peptidase_M1 42 430 2.7e-135 PFAM
low complexity region 488 501 N/A INTRINSIC
Pfam:ERAP1_C 586 904 1.7e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220594
Predicted Effect probably benign
Transcript: ENSMUST00000221526
AA Change: W19L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000221822
Meta Mutation Damage Score 0.0813 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
MGI Phenotype 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
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,278,780 (GRCm39) Y1030C probably damaging Het
Adh5 G T 3: 138,157,029 (GRCm39) V197F probably damaging Het
Ankmy1 A T 1: 92,798,684 (GRCm39) F936I probably damaging Het
Aoc1 A T 6: 48,885,625 (GRCm39) D710V probably damaging Het
Aplp1 T C 7: 30,134,902 (GRCm39) E622G probably damaging Het
Arhgap20 T C 9: 51,740,684 (GRCm39) Y219H probably damaging Het
Bag3 A G 7: 128,143,556 (GRCm39) D184G probably damaging Het
Cacna1g C T 11: 94,300,072 (GRCm39) A2216T probably damaging Het
Cbarp T C 10: 79,971,205 (GRCm39) probably null Het
Cep250 C A 2: 155,836,503 (GRCm39) L2211I possibly damaging Het
Cfap65 A G 1: 74,942,298 (GRCm39) I1752T probably benign Het
Col4a4 A G 1: 82,431,604 (GRCm39) V1560A unknown Het
Dapk3 A T 10: 81,019,864 (GRCm39) Q6L probably benign Het
Dctn5 A G 7: 121,732,460 (GRCm39) probably benign Het
Eef1akmt1 A T 14: 57,787,330 (GRCm39) I182N possibly damaging Het
Eef1g T C 19: 8,954,955 (GRCm39) F346S probably damaging Het
Gm10801 A G 2: 98,494,409 (GRCm39) H162R probably benign Het
Gpm6a G A 8: 55,507,845 (GRCm39) A194T probably benign Het
Grip1 C A 10: 119,829,137 (GRCm39) N32K probably benign Het
Hmcn1 A G 1: 150,494,687 (GRCm39) I4134T probably damaging Het
Hspa14 G A 2: 3,499,105 (GRCm39) H230Y probably benign Het
Ift172 T C 5: 31,414,241 (GRCm39) T1435A probably benign Het
Igsf3 T A 3: 101,358,322 (GRCm39) Y738N probably damaging Het
Lcor T C 19: 41,547,520 (GRCm39) V368A possibly damaging Het
Lmna C A 3: 88,393,928 (GRCm39) E217* probably null Het
Lrp1b C T 2: 41,231,894 (GRCm39) G337E probably benign Het
Maf1 A G 15: 76,236,312 (GRCm39) probably benign Het
Magi1 T C 6: 93,722,571 (GRCm39) I436V probably damaging Het
Muc4 C T 16: 32,596,157 (GRCm39) T3123I possibly damaging Het
Muc5b T A 7: 141,417,042 (GRCm39) H3329Q probably benign Het
Noa1 C T 5: 77,457,593 (GRCm39) R104Q probably benign Het
Odc1 T G 12: 17,599,473 (GRCm39) S267A probably benign Het
Or5p60 T A 7: 107,724,369 (GRCm39) I34F probably benign Het
Pam A G 1: 97,762,193 (GRCm39) Y691H probably damaging Het
Pamr1 T C 2: 102,441,953 (GRCm39) Y181H probably damaging Het
Pcdhga2 T A 18: 37,802,612 (GRCm39) I152N probably damaging Het
Pigt C T 2: 164,348,365 (GRCm39) Q437* probably null Het
Prx T C 7: 27,215,973 (GRCm39) L158P probably damaging Het
Ptprh T A 7: 4,600,922 (GRCm39) T152S probably benign Het
Pum1 G A 4: 130,457,591 (GRCm39) R201H probably damaging Het
Rad51ap2 T C 12: 11,507,290 (GRCm39) I404T probably benign Het
Radil C T 5: 142,529,399 (GRCm39) R99H probably damaging Het
Rc3h2 C T 2: 37,268,899 (GRCm39) V856I possibly damaging Het
Slx4ip T A 2: 136,888,664 (GRCm39) V115E probably damaging Het
Snx3 C A 10: 42,402,042 (GRCm39) S85R probably benign Het
Sppl2c A T 11: 104,077,963 (GRCm39) E254D probably benign Het
Srms C A 2: 180,849,780 (GRCm39) E237* probably null Het
Tenm1 C T X: 41,916,072 (GRCm39) G404E probably damaging Het
Trank1 T C 9: 111,220,805 (GRCm39) L2514P probably damaging Het
Trib1 C T 15: 59,523,487 (GRCm39) R174* probably null Het
Usp4 A G 9: 108,233,703 (GRCm39) Y108C probably damaging Het
Vmn2r60 A T 7: 41,844,847 (GRCm39) I737F probably damaging Het
Zfp600 A T 4: 146,131,701 (GRCm39) H123L probably benign Het
Zfp646 G T 7: 127,478,190 (GRCm39) R122S possibly damaging Het
Znfx1 A G 2: 166,880,126 (GRCm39) Y553H probably benign Het
Other mutations in Erap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Erap1 APN 13 74,821,778 (GRCm39) missense probably benign 0.17
IGL00661:Erap1 APN 13 74,822,908 (GRCm39) unclassified probably benign
IGL00903:Erap1 APN 13 74,821,826 (GRCm39) missense probably benign
IGL01095:Erap1 APN 13 74,816,213 (GRCm39) missense probably benign 0.04
IGL01536:Erap1 APN 13 74,810,542 (GRCm39) nonsense probably null
IGL01646:Erap1 APN 13 74,814,291 (GRCm39) missense probably damaging 1.00
IGL01674:Erap1 APN 13 74,812,350 (GRCm39) unclassified probably benign
IGL01795:Erap1 APN 13 74,814,209 (GRCm39) splice site probably null
IGL01922:Erap1 APN 13 74,810,506 (GRCm39) missense probably damaging 1.00
IGL01951:Erap1 APN 13 74,823,414 (GRCm39) missense probably damaging 0.99
IGL02106:Erap1 APN 13 74,794,758 (GRCm39) missense probably benign
IGL02369:Erap1 APN 13 74,814,645 (GRCm39) missense probably benign 0.05
IGL02669:Erap1 APN 13 74,823,987 (GRCm39) missense probably benign 0.13
IGL02866:Erap1 APN 13 74,816,118 (GRCm39) missense probably damaging 0.96
IGL03093:Erap1 APN 13 74,823,399 (GRCm39) missense probably benign 0.10
IGL03265:Erap1 APN 13 74,812,246 (GRCm39) missense probably damaging 1.00
R0091:Erap1 UTSW 13 74,816,171 (GRCm39) missense possibly damaging 0.88
R0456:Erap1 UTSW 13 74,812,339 (GRCm39) missense probably benign 0.24
R0556:Erap1 UTSW 13 74,808,444 (GRCm39) missense probably damaging 1.00
R0627:Erap1 UTSW 13 74,823,933 (GRCm39) unclassified probably benign
R0825:Erap1 UTSW 13 74,822,733 (GRCm39) unclassified probably benign
R1123:Erap1 UTSW 13 74,821,762 (GRCm39) missense probably benign
R1530:Erap1 UTSW 13 74,794,662 (GRCm39) missense probably benign 0.06
R1619:Erap1 UTSW 13 74,819,500 (GRCm39) missense probably damaging 1.00
R1731:Erap1 UTSW 13 74,814,241 (GRCm39) nonsense probably null
R1944:Erap1 UTSW 13 74,794,758 (GRCm39) missense probably benign
R2016:Erap1 UTSW 13 74,812,270 (GRCm39) missense probably damaging 1.00
R2022:Erap1 UTSW 13 74,814,627 (GRCm39) missense probably benign 0.08
R2023:Erap1 UTSW 13 74,814,627 (GRCm39) missense probably benign 0.08
R2045:Erap1 UTSW 13 74,817,569 (GRCm39) missense probably benign 0.01
R2081:Erap1 UTSW 13 74,823,426 (GRCm39) missense possibly damaging 0.67
R2187:Erap1 UTSW 13 74,810,524 (GRCm39) missense probably damaging 0.98
R2198:Erap1 UTSW 13 74,794,806 (GRCm39) missense probably damaging 0.97
R3938:Erap1 UTSW 13 74,816,147 (GRCm39) missense probably damaging 1.00
R4052:Erap1 UTSW 13 74,823,459 (GRCm39) missense probably benign 0.13
R4062:Erap1 UTSW 13 74,811,655 (GRCm39) missense probably benign 0.02
R4128:Erap1 UTSW 13 74,814,315 (GRCm39) missense probably damaging 1.00
R4247:Erap1 UTSW 13 74,823,414 (GRCm39) missense probably damaging 0.99
R4562:Erap1 UTSW 13 74,821,778 (GRCm39) missense probably benign 0.21
R4691:Erap1 UTSW 13 74,821,811 (GRCm39) missense probably damaging 0.99
R4831:Erap1 UTSW 13 74,838,766 (GRCm39) missense probably damaging 1.00
R4916:Erap1 UTSW 13 74,794,647 (GRCm39) missense probably benign
R4983:Erap1 UTSW 13 74,838,829 (GRCm39) missense probably benign 0.01
R5213:Erap1 UTSW 13 74,819,614 (GRCm39) splice site probably null
R5229:Erap1 UTSW 13 74,808,494 (GRCm39) missense possibly damaging 0.94
R5367:Erap1 UTSW 13 74,794,680 (GRCm39) missense probably damaging 0.99
R5463:Erap1 UTSW 13 74,794,533 (GRCm39) missense probably damaging 1.00
R5566:Erap1 UTSW 13 74,810,531 (GRCm39) missense probably damaging 1.00
R5972:Erap1 UTSW 13 74,810,423 (GRCm39) splice site probably null
R6132:Erap1 UTSW 13 74,808,401 (GRCm39) missense probably benign 0.00
R6180:Erap1 UTSW 13 74,814,345 (GRCm39) missense possibly damaging 0.55
R6314:Erap1 UTSW 13 74,822,894 (GRCm39) missense probably damaging 0.99
R6479:Erap1 UTSW 13 74,811,612 (GRCm39) splice site probably null
R6919:Erap1 UTSW 13 74,819,552 (GRCm39) missense probably benign 0.20
R7199:Erap1 UTSW 13 74,814,258 (GRCm39) missense probably benign 0.10
R7283:Erap1 UTSW 13 74,821,903 (GRCm39) splice site probably null
R7543:Erap1 UTSW 13 74,822,753 (GRCm39) missense probably damaging 1.00
R8174:Erap1 UTSW 13 74,794,683 (GRCm39) missense probably benign 0.09
R8217:Erap1 UTSW 13 74,820,937 (GRCm39) missense probably benign 0.33
R8320:Erap1 UTSW 13 74,814,668 (GRCm39) missense probably benign 0.02
R8799:Erap1 UTSW 13 74,805,755 (GRCm39) missense probably benign 0.02
R9041:Erap1 UTSW 13 74,822,818 (GRCm39) missense probably benign 0.02
R9232:Erap1 UTSW 13 74,811,637 (GRCm39) missense probably benign 0.36
R9244:Erap1 UTSW 13 74,821,903 (GRCm39) splice site probably null
X0067:Erap1 UTSW 13 74,808,491 (GRCm39) missense probably damaging 1.00
Z1176:Erap1 UTSW 13 74,805,757 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGATGATGCGTTTTGACATGC -3'
(R):5'- ATGCATAATAATGGTGCTGGTG -3'

Sequencing Primer
(F):5'- GAGCAAGAAGATAGTGTCTC -3'
(R):5'- GGGCCGGCTAGCTATGATTTCTAC -3'
Posted On 2017-08-16