Incidental Mutation 'R2023:Erap1'
| ID |
220177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erap1
|
| Ensembl Gene |
ENSMUSG00000021583 |
| Gene Name |
endoplasmic reticulum aminopeptidase 1 |
| Synonyms |
Arts1, PILSAP, ERAAP |
| MMRRC Submission |
040032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R2023 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74787692-74841324 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74814627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 451
(V451E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169114]
[ENSMUST00000221822]
[ENSMUST00000222127]
|
| AlphaFold |
Q9EQH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169114
AA Change: V451E
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: V451E
| 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 benign
Transcript: ENSMUST00000222127
|
| Meta Mutation Damage Score |
0.2088 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
97% (60/62) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,247 (GRCm39) |
S447P |
possibly damaging |
Het |
| 9930111J21Rik2 |
A |
G |
11: 48,911,144 (GRCm39) |
F430L |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,938,233 (GRCm39) |
V297A |
probably damaging |
Het |
| Adam3 |
G |
A |
8: 25,179,479 (GRCm39) |
R613C |
possibly damaging |
Het |
| Akt1 |
C |
T |
12: 112,626,071 (GRCm39) |
R67Q |
probably benign |
Het |
| Ambp |
T |
C |
4: 63,069,702 (GRCm39) |
Y108C |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,090 (GRCm39) |
I3158V |
probably benign |
Het |
| Bank1 |
T |
C |
3: 136,031,679 (GRCm39) |
T8A |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
| Ccdc88a |
G |
T |
11: 29,413,546 (GRCm39) |
E695* |
probably null |
Het |
| Cep68 |
A |
C |
11: 20,189,888 (GRCm39) |
S375A |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,236,375 (GRCm39) |
I417V |
probably benign |
Het |
| Chrna2 |
T |
A |
14: 66,379,677 (GRCm39) |
H5Q |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,536,193 (GRCm39) |
I549K |
probably damaging |
Het |
| Col28a1 |
C |
A |
6: 8,083,783 (GRCm39) |
S558I |
possibly damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,505 (GRCm39) |
I385T |
probably damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
| Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm5616 |
A |
G |
9: 48,361,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5709 |
T |
C |
3: 59,543,142 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,321,785 (GRCm39) |
M1054K |
possibly damaging |
Het |
| Kars1 |
T |
C |
8: 112,728,484 (GRCm39) |
N200S |
probably benign |
Het |
| Kdm2a |
C |
A |
19: 4,372,492 (GRCm39) |
R951L |
probably damaging |
Het |
| Ldhd |
T |
A |
8: 112,356,578 (GRCm39) |
H61L |
probably damaging |
Het |
| Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,703,266 (GRCm39) |
V190A |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,195,883 (GRCm39) |
V627E |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,054 (GRCm39) |
T711S |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,806,502 (GRCm39) |
L1813P |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,744,296 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
G |
T |
2: 89,969,200 (GRCm39) |
C94* |
probably null |
Het |
| Or5p63 |
A |
G |
7: 107,811,049 (GRCm39) |
L229P |
probably damaging |
Het |
| Or6c1b |
T |
A |
10: 129,273,451 (GRCm39) |
Y257N |
probably damaging |
Het |
| Osbpl2 |
C |
A |
2: 179,791,969 (GRCm39) |
|
probably null |
Het |
| Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
| Pgr |
T |
A |
9: 8,958,399 (GRCm39) |
V802D |
probably damaging |
Het |
| Pgs1 |
A |
G |
11: 117,893,228 (GRCm39) |
E55G |
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,614,744 (GRCm39) |
|
probably null |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
| Ptprd |
C |
T |
4: 75,875,341 (GRCm39) |
E1240K |
probably damaging |
Het |
| Recql5 |
G |
A |
11: 115,784,466 (GRCm39) |
T878I |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,669,036 (GRCm39) |
D233G |
possibly damaging |
Het |
| Sectm1a |
A |
G |
11: 120,960,408 (GRCm39) |
|
probably benign |
Het |
| Smo |
A |
G |
6: 29,754,715 (GRCm39) |
N262D |
possibly damaging |
Het |
| Srcin1 |
A |
G |
11: 97,416,872 (GRCm39) |
S931P |
probably benign |
Het |
| Tcof1 |
C |
T |
18: 60,966,605 (GRCm39) |
G329R |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,327,535 (GRCm39) |
H1446Y |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,026 (GRCm39) |
T671A |
probably damaging |
Het |
| Tmem171 |
C |
A |
13: 98,828,733 (GRCm39) |
W139L |
probably damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,810,368 (GRCm39) |
R385* |
probably null |
Het |
| Vps13c |
A |
T |
9: 67,843,567 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
G |
T |
7: 29,230,959 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp287 |
A |
C |
11: 62,605,808 (GRCm39) |
Y366* |
probably null |
Het |
| Zfp456 |
A |
T |
13: 67,514,616 (GRCm39) |
C363* |
probably null |
Het |
| Zfp523 |
A |
G |
17: 28,419,978 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
C |
7: 6,308,416 (GRCm39) |
K361N |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGGCCACAGTCCTATTAGAG -3'
(R):5'- GCCATCCATTGTTTGTGTGC -3'
Sequencing Primer
(F):5'- CCTATTAGAGGGACTTATGGTATGG -3'
(R):5'- GTCACTCTCATTTCTCTAGAAAGTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation