Incidental Mutation 'R6479:Erap1'
ID 516998
Institutional Source Beutler Lab
Gene Symbol Erap1
Ensembl Gene ENSMUSG00000021583
Gene Name endoplasmic reticulum aminopeptidase 1
Synonyms Arts1, PILSAP, ERAAP
MMRRC Submission 044611-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R6479 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 74787692-74841324 bp(+) (GRCm39)
Type of Mutation splice site (1132 bp from exon)
DNA Base Change (assembly) A to G at 74811612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169114] [ENSMUST00000221822] [ENSMUST00000222127]
AlphaFold Q9EQH2
Predicted Effect possibly damaging
Transcript: ENSMUST00000169114
AA Change: D324G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: D324G

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 noncoding transcript
Transcript: ENSMUST00000221606
Predicted Effect probably null
Transcript: ENSMUST00000221822
Predicted Effect probably benign
Transcript: ENSMUST00000222127
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.0%
Validation Efficiency 95% (55/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A C 8: 25,119,681 (GRCm39) S533A probably benign Het
Akap6 T G 12: 53,187,952 (GRCm39) S1789A probably damaging Het
Alox15 A G 11: 70,236,011 (GRCm39) S519P probably damaging Het
Anapc2 A G 2: 25,175,407 (GRCm39) K816E probably benign Het
Atp6v1a T C 16: 43,919,121 (GRCm39) D488G probably benign Het
Banp A G 8: 122,718,176 (GRCm39) probably null Het
Camsap1 A G 2: 25,825,874 (GRCm39) C1367R possibly damaging Het
Casz1 C A 4: 149,021,535 (GRCm39) H539Q probably damaging Het
Ccl5 A G 11: 83,421,212 (GRCm39) Y26H probably benign Het
Cops3 A T 11: 59,723,898 (GRCm39) S86R probably benign Het
Cts7 A G 13: 61,503,455 (GRCm39) S170P probably benign Het
Cxcl15 A T 5: 90,943,104 (GRCm39) E35D possibly damaging Het
Dennd1b C T 1: 138,969,698 (GRCm39) probably benign Het
Dicer1 T C 12: 104,662,982 (GRCm39) D1533G probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock4 A G 12: 40,878,954 (GRCm39) E1531G probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gm10309 A T 17: 86,812,007 (GRCm39) M1K probably null Het
Gm4884 A T 7: 40,690,211 (GRCm39) N36Y probably damaging Het
Hmcn1 G A 1: 150,553,053 (GRCm39) R2546* probably null Het
Hmcn2 A G 2: 31,315,480 (GRCm39) D3743G probably damaging Het
Hsd3b9 T A 3: 98,354,157 (GRCm39) E114V possibly damaging Het
Irak2 A T 6: 113,663,902 (GRCm39) N423Y probably damaging Het
Jarid2 G A 13: 45,001,765 (GRCm39) G26D probably benign Het
Kif13b A G 14: 64,988,974 (GRCm39) K785R probably benign Het
Lamc3 A T 2: 31,777,413 (GRCm39) I20F probably benign Het
Limk1 G A 5: 134,690,373 (GRCm39) probably benign Het
Lrp4 C T 2: 91,317,429 (GRCm39) T851I probably damaging Het
Med13 G A 11: 86,248,353 (GRCm39) probably benign Het
Megf10 T C 18: 57,379,642 (GRCm39) F273L possibly damaging Het
Meltf T A 16: 31,700,700 (GRCm39) D73E probably damaging Het
Mroh7 A G 4: 106,560,385 (GRCm39) F640L possibly damaging Het
Mtor T C 4: 148,635,457 (GRCm39) S2448P probably benign Het
Myo3a T C 2: 22,467,877 (GRCm39) V377A probably benign Het
Myo5b T C 18: 74,750,086 (GRCm39) V183A probably damaging Het
Nedd4l G A 18: 65,342,752 (GRCm39) R755H probably damaging Het
Nrde2 T C 12: 100,110,207 (GRCm39) T275A probably benign Het
Or52n4 A G 7: 104,294,333 (GRCm39) I80T probably benign Het
Osgepl1 T C 1: 53,360,702 (GRCm39) V381A probably benign Het
Pcdha1 C T 18: 37,064,509 (GRCm39) T391I probably benign Het
Pdp1 T C 4: 11,961,327 (GRCm39) N328S probably damaging Het
Pepd A G 7: 34,740,147 (GRCm39) E340G probably benign Het
Plch1 T C 3: 63,651,931 (GRCm39) T387A probably benign Het
Plxnb1 C A 9: 108,940,733 (GRCm39) T1536K possibly damaging Het
Rbp7 T C 4: 149,534,347 (GRCm39) T130A probably benign Het
Rhot2 A T 17: 26,060,054 (GRCm39) V309E probably benign Het
Slc37a1 A G 17: 31,557,964 (GRCm39) I421M possibly damaging Het
Slit2 T A 5: 48,389,331 (GRCm39) L585H probably damaging Het
Spint4 C A 2: 164,542,764 (GRCm39) A119D probably benign Het
Strip2 G T 6: 29,944,496 (GRCm39) probably null Het
Stxbp4 T C 11: 90,510,013 (GRCm39) Y59C probably damaging Het
Syne1 G A 10: 5,181,679 (GRCm39) Q4219* probably null Het
Syne1 A T 10: 5,406,826 (GRCm39) I37N probably damaging Het
Syne4 G T 7: 30,016,340 (GRCm39) G179* probably null Het
Tead1 T C 7: 112,460,672 (GRCm39) V192A probably benign Het
Trim37 G T 11: 87,107,313 (GRCm39) E317* probably null Het
Wdfy3 A C 5: 102,061,045 (GRCm39) Y1390D probably damaging Het
Wdr81 A G 11: 75,342,931 (GRCm39) F779L possibly damaging Het
Zfp1002 C T 2: 150,096,511 (GRCm39) G306D probably damaging 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
R6112:Erap1 UTSW 13 74,794,398 (GRCm39) missense probably benign 0.44
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
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'- TCTGCATTCAAGGGCTTAGG -3'
(R):5'- GCAGACTACCTATTCTCCAGC -3'

Sequencing Primer
(F):5'- CATTCAAGGGCTTAGGTTTTCAC -3'
(R):5'- TACCTATTCTCCAGCAAAGGATTC -3'
Posted On 2018-05-21