Incidental Mutation 'IGL01646:Erap1'
| ID |
102670 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Erap1
|
| Ensembl Gene |
ENSMUSG00000021583 |
| Gene Name |
endoplasmic reticulum aminopeptidase 1 |
| Synonyms |
Arts1, PILSAP, ERAAP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL01646
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74787692-74841324 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 74814291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 25
(T25K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169114]
[ENSMUST00000221822]
[ENSMUST00000222127]
|
| AlphaFold |
Q9EQH2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169114
AA Change: T410K
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: T410K
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000221822
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222127
AA Change: T25K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
C |
T |
4: 63,066,977 (GRCm39) |
V188I |
probably benign |
Het |
| Bbs9 |
G |
T |
9: 22,582,221 (GRCm39) |
E638* |
probably null |
Het |
| Bmp6 |
A |
G |
13: 38,682,904 (GRCm39) |
M465V |
probably damaging |
Het |
| Ccdc192 |
T |
A |
18: 57,800,417 (GRCm39) |
C171* |
probably null |
Het |
| Cemip |
T |
C |
7: 83,632,440 (GRCm39) |
E374G |
possibly damaging |
Het |
| Cnbd1 |
A |
T |
4: 18,895,141 (GRCm39) |
Y200* |
probably null |
Het |
| Cox6b1 |
G |
T |
7: 30,323,929 (GRCm39) |
Y34* |
probably null |
Het |
| Cyp2d26 |
A |
C |
15: 82,675,619 (GRCm39) |
I303M |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 38,026,469 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
T |
C |
5: 104,359,731 (GRCm39) |
S136P |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,832,877 (GRCm39) |
T241A |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,906,007 (GRCm39) |
E3137G |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,179,844 (GRCm39) |
|
probably null |
Het |
| Gldc |
T |
G |
19: 30,078,165 (GRCm39) |
D944A |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,689,267 (GRCm39) |
Y546C |
probably damaging |
Het |
| Igkv1-122 |
G |
A |
6: 67,993,728 (GRCm39) |
M1I |
probably null |
Het |
| Jag2 |
G |
A |
12: 112,879,969 (GRCm39) |
P380S |
possibly damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,108,311 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
T |
C |
9: 44,736,781 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,022,333 (GRCm39) |
V286A |
probably damaging |
Het |
| Mllt10 |
C |
A |
2: 18,127,128 (GRCm39) |
H82N |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,039,639 (GRCm39) |
R837L |
probably damaging |
Het |
| Nsg1 |
C |
A |
5: 38,313,035 (GRCm39) |
D55Y |
probably damaging |
Het |
| Nup107 |
C |
A |
10: 117,617,247 (GRCm39) |
R221M |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,837,583 (GRCm39) |
A1213D |
possibly damaging |
Het |
| Ovgp1 |
G |
A |
3: 105,885,665 (GRCm39) |
G174S |
probably damaging |
Het |
| Papss2 |
C |
T |
19: 32,629,482 (GRCm39) |
A357V |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,881 (GRCm39) |
K4118R |
unknown |
Het |
| Pde2a |
T |
C |
7: 101,156,918 (GRCm39) |
I628T |
possibly damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,325,708 (GRCm39) |
W521R |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,153,813 (GRCm39) |
Q744L |
probably damaging |
Het |
| Pnpo |
T |
A |
11: 96,829,775 (GRCm39) |
E251V |
possibly damaging |
Het |
| Rdh10 |
C |
T |
1: 16,178,246 (GRCm39) |
H173Y |
possibly damaging |
Het |
| Sgpp2 |
A |
T |
1: 78,393,533 (GRCm39) |
I179F |
probably damaging |
Het |
| Slc11a1 |
C |
T |
1: 74,423,899 (GRCm39) |
P409L |
probably damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,135,364 (GRCm39) |
N316I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,064,148 (GRCm39) |
I712V |
probably benign |
Het |
| Spr |
T |
C |
6: 85,111,222 (GRCm39) |
D216G |
possibly damaging |
Het |
| Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
| Tas2r124 |
T |
C |
6: 132,732,332 (GRCm39) |
S214P |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,549,936 (GRCm39) |
S233T |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,269,279 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,337 (GRCm39) |
F317S |
probably benign |
Het |
| Vmn2r99 |
C |
A |
17: 19,613,920 (GRCm39) |
|
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,451,331 (GRCm39) |
E156G |
probably benign |
Het |
|
| Other mutations in Erap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation