Incidental Mutation 'R4748:Enpep'
| ID |
357268 |
| 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 |
042030-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4748 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
129062824-129126369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129125812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 107
(Y107H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
| AlphaFold |
P16406 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029658
AA Change: Y107H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: Y107H
| 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 |
noncoding transcript
Transcript: ENSMUST00000165217
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170918
AA Change: Y34H
|
| SMART Domains |
Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024
AA Change: Y34H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M1
|
12 |
402 |
9.6e-148 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
A |
1: 138,784,394 (GRCm39) |
E54D |
possibly damaging |
Het |
| Abcb6 |
C |
A |
1: 75,154,002 (GRCm39) |
G367W |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,405 (GRCm39) |
M84V |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,592,333 (GRCm39) |
V291A |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,651,633 (GRCm39) |
F980L |
probably damaging |
Het |
| Bpi |
G |
A |
2: 158,113,941 (GRCm39) |
V280I |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,986,706 (GRCm39) |
D581G |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,793,302 (GRCm39) |
Y223N |
possibly damaging |
Het |
| Ccdc141 |
A |
C |
2: 76,888,324 (GRCm39) |
I480M |
possibly damaging |
Het |
| Ccn4 |
C |
A |
15: 66,778,489 (GRCm39) |
Y103* |
probably null |
Het |
| Ccnh |
T |
A |
13: 85,337,758 (GRCm39) |
V35E |
probably benign |
Het |
| Cd6 |
G |
T |
19: 10,771,589 (GRCm39) |
S433* |
probably null |
Het |
| Ceacam10 |
A |
C |
7: 24,480,477 (GRCm39) |
I83L |
probably benign |
Het |
| Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
| Chia1 |
A |
T |
3: 106,029,765 (GRCm39) |
D73V |
probably damaging |
Het |
| Commd2 |
G |
A |
3: 57,554,215 (GRCm39) |
T162I |
probably benign |
Het |
| Creb3l3 |
C |
T |
10: 80,921,881 (GRCm39) |
A316T |
probably benign |
Het |
| Cul4a |
A |
G |
8: 13,173,526 (GRCm39) |
K1R |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,005,176 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
T |
C |
6: 38,173,776 (GRCm39) |
T131A |
possibly damaging |
Het |
| Dctn4 |
A |
C |
18: 60,683,308 (GRCm39) |
K295N |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 31,041,902 (GRCm39) |
V23A |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,767,048 (GRCm39) |
K91E |
possibly damaging |
Het |
| Dzip1l |
A |
G |
9: 99,524,704 (GRCm39) |
D275G |
probably damaging |
Het |
| Enam |
C |
A |
5: 88,649,402 (GRCm39) |
P304T |
probably damaging |
Het |
| Exd2 |
T |
C |
12: 80,527,350 (GRCm39) |
L27P |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,335,904 (GRCm39) |
D430V |
probably benign |
Het |
| Fam222b |
C |
T |
11: 78,045,429 (GRCm39) |
T202I |
possibly damaging |
Het |
| Fmod |
T |
A |
1: 133,968,912 (GRCm39) |
N317K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,448,514 (GRCm39) |
F2301L |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,338,088 (GRCm39) |
F127S |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,243,848 (GRCm39) |
S132G |
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,424,830 (GRCm39) |
C443R |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,411,437 (GRCm39) |
M5V |
possibly damaging |
Het |
| Helb |
T |
C |
10: 119,920,754 (GRCm39) |
D1063G |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt90 |
G |
A |
15: 101,463,768 (GRCm39) |
L429F |
probably damaging |
Het |
| Lrr1 |
C |
A |
12: 69,221,236 (GRCm39) |
T126K |
probably benign |
Het |
| Mgat4e |
C |
A |
1: 134,469,766 (GRCm39) |
D93Y |
probably damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,018 (GRCm39) |
S343R |
possibly damaging |
Het |
| Mms19 |
T |
A |
19: 41,932,997 (GRCm39) |
S1031C |
probably damaging |
Het |
| Mtrf1 |
C |
T |
14: 79,649,090 (GRCm39) |
H237Y |
probably damaging |
Het |
| Nckap1l |
T |
A |
15: 103,381,483 (GRCm39) |
L408Q |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
| Or11g1 |
T |
G |
14: 50,651,333 (GRCm39) |
L111V |
possibly damaging |
Het |
| Or13c3 |
A |
G |
4: 52,856,076 (GRCm39) |
S146P |
possibly damaging |
Het |
| Or4a39 |
C |
T |
2: 89,236,599 (GRCm39) |
V275I |
probably benign |
Het |
| Or5d36 |
T |
A |
2: 87,900,956 (GRCm39) |
I257L |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,385,663 (GRCm39) |
S376P |
possibly damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,907,322 (GRCm39) |
K196* |
probably null |
Het |
| Paqr8 |
T |
A |
1: 21,005,637 (GRCm39) |
C264S |
probably benign |
Het |
| Pgm1 |
T |
A |
4: 99,839,176 (GRCm39) |
F459Y |
probably benign |
Het |
| Phip |
C |
A |
9: 82,790,922 (GRCm39) |
V675L |
probably benign |
Het |
| Pnma1 |
T |
G |
12: 84,194,497 (GRCm39) |
T69P |
probably benign |
Het |
| Ppp1r14bl |
T |
C |
1: 23,140,951 (GRCm39) |
E121G |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,210,383 (GRCm39) |
C242* |
probably null |
Het |
| Rabep1 |
T |
A |
11: 70,799,294 (GRCm39) |
V306E |
probably benign |
Het |
| Ros1 |
C |
T |
10: 51,992,093 (GRCm39) |
D1377N |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,794,750 (GRCm39) |
T121A |
possibly damaging |
Het |
| Scaf11 |
G |
A |
15: 96,318,302 (GRCm39) |
Q421* |
probably null |
Het |
| Shcbp1 |
G |
A |
8: 4,794,512 (GRCm39) |
T427M |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,046,220 (GRCm39) |
R979H |
probably damaging |
Het |
| Slc22a27 |
C |
T |
19: 7,903,241 (GRCm39) |
C163Y |
probably benign |
Het |
| Slc27a1 |
A |
G |
8: 72,033,319 (GRCm39) |
D287G |
probably damaging |
Het |
| Slc27a1 |
C |
T |
8: 72,033,453 (GRCm39) |
T310M |
possibly damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
| Slc35f2 |
A |
T |
9: 53,679,069 (GRCm39) |
M1L |
probably benign |
Het |
| Sltm |
G |
C |
9: 70,488,647 (GRCm39) |
R599T |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,511,752 (GRCm39) |
Q168L |
probably damaging |
Het |
| Spink6 |
G |
A |
18: 44,215,428 (GRCm39) |
|
probably null |
Het |
| Stac2 |
T |
C |
11: 97,932,198 (GRCm39) |
E235G |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,246,388 (GRCm39) |
Q957* |
probably null |
Het |
| Them7 |
A |
T |
2: 105,208,991 (GRCm39) |
T104S |
possibly damaging |
Het |
| Tmed4 |
T |
A |
11: 6,221,716 (GRCm39) |
I207F |
possibly damaging |
Het |
| Tmem248 |
A |
G |
5: 130,265,731 (GRCm39) |
E178G |
probably benign |
Het |
| Tomm40l |
G |
A |
1: 171,047,131 (GRCm39) |
R296* |
probably null |
Het |
| Trim80 |
C |
A |
11: 115,338,964 (GRCm39) |
T598N |
possibly damaging |
Het |
| Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
| Vil1 |
C |
T |
1: 74,460,425 (GRCm39) |
A194V |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,565 (GRCm39) |
M393L |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
| Vps33b |
G |
T |
7: 79,939,796 (GRCm39) |
A516S |
probably damaging |
Het |
| Zc3h6 |
G |
A |
2: 128,844,160 (GRCm39) |
G235R |
probably damaging |
Het |
| Zfp612 |
T |
A |
8: 110,815,304 (GRCm39) |
D170E |
probably benign |
Het |
| Zfp746 |
A |
G |
6: 48,041,490 (GRCm39) |
I412T |
probably benign |
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 |
|
|
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 |
|
R7452:Enpep
|
UTSW |
3 |
129,065,052 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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'- CATGGTCAGCCGATAGACAC -3'
(R):5'- TTTGACCAGGTCGTGTGAGC -3'
Sequencing Primer
(F):5'- ATAGACACTGTCCCCACTGGTG -3'
(R):5'- TGTGAGCAGGACACAACC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation