Incidental Mutation 'R7452:Enpep'
| ID |
577787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enpep
|
| Ensembl Gene |
ENSMUSG00000028024 |
| Gene Name |
glutamyl aminopeptidase |
| Synonyms |
Bp-1/6C3, 6030431M22Rik, Ly51, Ly-51, aminopeptidase-A, APA |
| MMRRC Submission |
045526-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
129062824-129126369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129065052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 879
(Y879F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
| AlphaFold |
P16406 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029658
AA Change: Y879F
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: Y879F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
84 |
474 |
6e-147 |
PFAM |
|
Pfam:ERAP1_C
|
607 |
925 |
1e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170918
|
| SMART Domains |
Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M1
|
12 |
402 |
9.6e-148 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (75/75) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and morphologically unaffected with normal B and T cell development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,618,291 (GRCm39) |
Q195K |
probably damaging |
Het |
| Abcg4 |
C |
T |
9: 44,190,897 (GRCm39) |
G249R |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,230,376 (GRCm39) |
T293A |
probably benign |
Het |
| Adamts5 |
T |
A |
16: 85,674,869 (GRCm39) |
T432S |
probably benign |
Het |
| Adh5 |
A |
G |
3: 138,160,506 (GRCm39) |
T347A |
probably benign |
Het |
| Agbl5 |
A |
G |
5: 31,050,735 (GRCm39) |
D432G |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,734,881 (GRCm39) |
T797A |
possibly damaging |
Het |
| Aoc1 |
T |
G |
6: 48,885,724 (GRCm39) |
V743G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,833,892 (GRCm39) |
S858R |
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,480,438 (GRCm39) |
V162G |
possibly damaging |
Het |
| Armc9 |
A |
G |
1: 86,140,814 (GRCm39) |
D588G |
possibly damaging |
Het |
| Art3 |
A |
G |
5: 92,540,539 (GRCm39) |
Y94C |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,946,527 (GRCm39) |
D444E |
probably damaging |
Het |
| Cav2 |
A |
G |
6: 17,282,075 (GRCm39) |
H111R |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,717,596 (GRCm39) |
L469P |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,320,406 (GRCm39) |
E802V |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,452,981 (GRCm39) |
D574G |
probably damaging |
Het |
| Chd7 |
A |
C |
4: 8,854,731 (GRCm39) |
D2024A |
probably benign |
Het |
| Corin |
T |
A |
5: 72,592,590 (GRCm39) |
D269V |
possibly damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,184,795 (GRCm39) |
I359F |
probably damaging |
Het |
| Defb6 |
T |
C |
8: 19,275,540 (GRCm39) |
L7P |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,196 (GRCm39) |
M1817L |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,866,664 (GRCm39) |
F682S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,730,132 (GRCm39) |
N462S |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,036,107 (GRCm39) |
|
probably null |
Het |
| F7 |
C |
T |
8: 13,085,215 (GRCm39) |
H414Y |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,347,375 (GRCm39) |
H50R |
possibly damaging |
Het |
| Fig4 |
T |
C |
10: 41,116,633 (GRCm39) |
D586G |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,181,331 (GRCm39) |
L2825P |
probably damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,800,240 (GRCm39) |
H30Q |
possibly damaging |
Het |
| Garre1 |
A |
G |
7: 33,945,096 (GRCm39) |
S595P |
probably benign |
Het |
| Gm12886 |
G |
A |
4: 121,274,671 (GRCm39) |
Q70* |
probably null |
Het |
| Gm8104 |
A |
C |
14: 42,967,501 (GRCm39) |
T190P |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,065,592 (GRCm39) |
N749K |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,808,926 (GRCm39) |
T1101A |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,423,074 (GRCm39) |
S210T |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,901,615 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
A |
G |
7: 80,410,577 (GRCm39) |
V212A |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,243,607 (GRCm39) |
E448G |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,552,686 (GRCm39) |
C1221R |
probably damaging |
Het |
| Lrrc72 |
T |
C |
12: 36,262,692 (GRCm39) |
Y52C |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,739,030 (GRCm39) |
I3617T |
possibly damaging |
Het |
| Mtpap |
T |
A |
18: 4,379,705 (GRCm39) |
H98Q |
possibly damaging |
Het |
| Nemf |
A |
T |
12: 69,384,733 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
T |
18: 86,517,056 (GRCm39) |
I458L |
probably benign |
Het |
| Nfam1 |
T |
A |
15: 82,899,163 (GRCm39) |
M128L |
probably benign |
Het |
| Or2y13 |
C |
A |
11: 49,415,208 (GRCm39) |
H219Q |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,137,266 (GRCm39) |
T239A |
probably damaging |
Het |
| Or5p75-ps1 |
C |
T |
7: 108,107,800 (GRCm39) |
T179I |
unknown |
Het |
| Or8b50 |
A |
T |
9: 38,518,384 (GRCm39) |
I208F |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,023,466 (GRCm39) |
G7D |
probably benign |
Het |
| Pde11a |
A |
G |
2: 75,966,758 (GRCm39) |
Y564H |
probably damaging |
Het |
| Pex5l |
C |
T |
3: 33,058,467 (GRCm39) |
V262I |
probably benign |
Het |
| Poli |
A |
G |
18: 70,642,049 (GRCm39) |
V717A |
possibly damaging |
Het |
| Prdm14 |
A |
T |
1: 13,195,783 (GRCm39) |
W93R |
probably damaging |
Het |
| Rbm46 |
T |
C |
3: 82,771,428 (GRCm39) |
M396V |
probably benign |
Het |
| Rcor2 |
T |
C |
19: 7,248,587 (GRCm39) |
V212A |
probably benign |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Skp2 |
T |
A |
15: 9,113,920 (GRCm39) |
Q366L |
probably damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,269,034 (GRCm39) |
S312T |
probably benign |
Het |
| Sstr1 |
T |
C |
12: 58,260,142 (GRCm39) |
L255P |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,155,585 (GRCm39) |
E458G |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,797,461 (GRCm39) |
D311V |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,715,332 (GRCm39) |
D347G |
probably benign |
Het |
| Tmem161a |
A |
G |
8: 70,630,138 (GRCm39) |
D108G |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,731,792 (GRCm39) |
I47F |
|
Het |
| Trp53bp2 |
C |
T |
1: 182,274,133 (GRCm39) |
Q95* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,707,487 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
C |
16: 44,040,397 (GRCm39) |
S1626P |
probably benign |
Het |
| Usp3 |
T |
C |
9: 66,474,180 (GRCm39) |
R33G |
probably benign |
Het |
| Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
|
| Other mutations in Enpep |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Enpep
|
APN |
3 |
129,125,731 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01895:Enpep
|
APN |
3 |
129,063,983 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02193:Enpep
|
APN |
3 |
129,075,336 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02215:Enpep
|
APN |
3 |
129,063,926 (GRCm39) |
splice site |
probably benign |
|
|
IGL02511:Enpep
|
APN |
3 |
129,115,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02579:Enpep
|
APN |
3 |
129,077,739 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02634:Enpep
|
APN |
3 |
129,103,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03034:Enpep
|
APN |
3 |
129,092,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03214:Enpep
|
APN |
3 |
129,086,896 (GRCm39) |
missense |
probably benign |
|
|
IGL03401:Enpep
|
APN |
3 |
129,106,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
P0041:Enpep
|
UTSW |
3 |
129,125,847 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0371:Enpep
|
UTSW |
3 |
129,077,516 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0479:Enpep
|
UTSW |
3 |
129,106,323 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1036:Enpep
|
UTSW |
3 |
129,077,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Enpep
|
UTSW |
3 |
129,113,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Enpep
|
UTSW |
3 |
129,113,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Enpep
|
UTSW |
3 |
129,113,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Enpep
|
UTSW |
3 |
129,074,172 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2101:Enpep
|
UTSW |
3 |
129,092,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2153:Enpep
|
UTSW |
3 |
129,074,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2474:Enpep
|
UTSW |
3 |
129,077,807 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3618:Enpep
|
UTSW |
3 |
129,077,807 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3619:Enpep
|
UTSW |
3 |
129,077,807 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4275:Enpep
|
UTSW |
3 |
129,125,927 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4291:Enpep
|
UTSW |
3 |
129,063,966 (GRCm39) |
nonsense |
probably null |
|
|
R4438:Enpep
|
UTSW |
3 |
129,077,740 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4570:Enpep
|
UTSW |
3 |
129,075,197 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4678:Enpep
|
UTSW |
3 |
129,097,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4679:Enpep
|
UTSW |
3 |
129,097,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4748:Enpep
|
UTSW |
3 |
129,125,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Enpep
|
UTSW |
3 |
129,070,420 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4954:Enpep
|
UTSW |
3 |
129,077,829 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5074:Enpep
|
UTSW |
3 |
129,097,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5261:Enpep
|
UTSW |
3 |
129,099,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Enpep
|
UTSW |
3 |
129,074,159 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5661:Enpep
|
UTSW |
3 |
129,070,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5687:Enpep
|
UTSW |
3 |
129,092,743 (GRCm39) |
splice site |
probably null |
|
|
R5695:Enpep
|
UTSW |
3 |
129,102,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5697:Enpep
|
UTSW |
3 |
129,102,772 (GRCm39) |
missense |
probably benign |
|
|
R5889:Enpep
|
UTSW |
3 |
129,106,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Enpep
|
UTSW |
3 |
129,106,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5968:Enpep
|
UTSW |
3 |
129,074,587 (GRCm39) |
missense |
probably benign |
|
|
R5976:Enpep
|
UTSW |
3 |
129,092,773 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6151:Enpep
|
UTSW |
3 |
129,126,067 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6367:Enpep
|
UTSW |
3 |
129,125,730 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6468:Enpep
|
UTSW |
3 |
129,125,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6484:Enpep
|
UTSW |
3 |
129,115,130 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6938:Enpep
|
UTSW |
3 |
129,092,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6989:Enpep
|
UTSW |
3 |
129,074,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Enpep
|
UTSW |
3 |
129,106,319 (GRCm39) |
nonsense |
probably null |
|
|
R7258:Enpep
|
UTSW |
3 |
129,125,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7576:Enpep
|
UTSW |
3 |
129,077,740 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7684:Enpep
|
UTSW |
3 |
129,115,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:Enpep
|
UTSW |
3 |
129,102,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Enpep
|
UTSW |
3 |
129,099,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Enpep
|
UTSW |
3 |
129,092,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8318:Enpep
|
UTSW |
3 |
129,063,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8423:Enpep
|
UTSW |
3 |
129,102,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Enpep
|
UTSW |
3 |
129,113,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8532:Enpep
|
UTSW |
3 |
129,070,302 (GRCm39) |
nonsense |
probably null |
|
|
R8826:Enpep
|
UTSW |
3 |
129,065,067 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8884:Enpep
|
UTSW |
3 |
129,115,052 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8936:Enpep
|
UTSW |
3 |
129,125,884 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8937:Enpep
|
UTSW |
3 |
129,115,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8959:Enpep
|
UTSW |
3 |
129,113,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Enpep
|
UTSW |
3 |
129,102,772 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9375:Enpep
|
UTSW |
3 |
129,125,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Enpep
|
UTSW |
3 |
129,070,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGCCTTAGGTTTCTCAG -3'
(R):5'- ACATGTACAGTCATACACACATGAG -3'
Sequencing Primer
(F):5'- GGCCTTAGGTTTCTCAGTTTTTAAAC -3'
(R):5'- ACATGAGTGTACCACCTGTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation