Incidental Mutation 'R4954:Enpep'
| ID |
381462 |
| 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 |
042551-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4954 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
129062824-129126369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129077829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 596
(I596N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
| AlphaFold |
P16406 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029658
AA Change: I596N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: I596N
| 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: ENSMUST00000164443
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000169240
AA Change: I172N
|
| SMART Domains |
Protein: ENSMUSP00000129759
Gene: ENSMUSG00000028024
AA Change: I172N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M1
|
1 |
51 |
1.5e-10 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170918
AA Change: N496K
|
| SMART Domains |
Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024
AA Change: N496K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M1
|
12 |
402 |
9.6e-148 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198498
|
| Meta Mutation Damage Score |
0.0767 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
| Alk |
C |
T |
17: 72,209,687 (GRCm39) |
W919* |
probably null |
Het |
| Aoc3 |
G |
A |
11: 101,222,925 (GRCm39) |
G387D |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,376,694 (GRCm39) |
C441S |
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,176,008 (GRCm39) |
E100* |
probably null |
Het |
| Ate1 |
C |
T |
7: 130,110,748 (GRCm39) |
G186D |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,919,026 (GRCm39) |
L1948H |
probably damaging |
Het |
| Bmp2k |
C |
T |
5: 97,234,623 (GRCm39) |
|
probably benign |
Het |
| Ccin |
A |
T |
4: 43,985,077 (GRCm39) |
I495F |
probably benign |
Het |
| Cir1 |
T |
A |
2: 73,140,848 (GRCm39) |
E40D |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,765 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
A |
G |
1: 138,981,124 (GRCm39) |
T113A |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,430,322 (GRCm39) |
P79S |
possibly damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,219,645 (GRCm39) |
D99G |
probably damaging |
Het |
| Eps15 |
G |
A |
4: 109,227,875 (GRCm39) |
|
probably null |
Het |
| Ext1 |
T |
C |
15: 53,207,888 (GRCm39) |
D291G |
probably damaging |
Het |
| Gm12883 |
T |
C |
4: 121,252,198 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9921 |
A |
G |
12: 45,484,383 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T22 |
C |
A |
17: 36,352,851 (GRCm39) |
W85C |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,422,397 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
T |
A |
3: 40,739,832 (GRCm39) |
|
probably null |
Het |
| Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
| Kpna1 |
T |
C |
16: 35,853,696 (GRCm39) |
V442A |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Musk |
C |
T |
4: 58,344,222 (GRCm39) |
T285I |
probably damaging |
Het |
| Myorg |
G |
A |
4: 41,498,241 (GRCm39) |
A463V |
possibly damaging |
Het |
| Nbea |
T |
G |
3: 55,943,379 (GRCm39) |
Q632P |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,907,706 (GRCm39) |
V1105A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,067,530 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,061,318 (GRCm39) |
K970* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,917,302 (GRCm39) |
|
probably benign |
Het |
| Or13g1 |
T |
C |
7: 85,955,809 (GRCm39) |
I171V |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,213,318 (GRCm39) |
M259V |
probably benign |
Het |
| Or52a24 |
A |
G |
7: 103,381,414 (GRCm39) |
I94V |
probably damaging |
Het |
| Otos |
T |
C |
1: 92,572,167 (GRCm39) |
Y53C |
probably damaging |
Het |
| Oxct2a |
A |
T |
4: 123,216,252 (GRCm39) |
C376* |
probably null |
Het |
| Pate12 |
A |
T |
9: 36,344,156 (GRCm39) |
K46N |
probably benign |
Het |
| Phf14 |
C |
A |
6: 11,987,619 (GRCm39) |
Q633K |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,700,602 (GRCm39) |
N1778I |
probably damaging |
Het |
| Psmc3 |
C |
T |
2: 90,885,974 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,544,274 (GRCm39) |
I177F |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,539,003 (GRCm39) |
D307G |
probably benign |
Het |
| Rps6ka2 |
G |
A |
17: 7,566,685 (GRCm39) |
V648I |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,587,725 (GRCm39) |
V1340M |
possibly damaging |
Het |
| Sema7a |
T |
C |
9: 57,863,663 (GRCm39) |
W279R |
probably damaging |
Het |
| Slc2a10 |
A |
T |
2: 165,356,675 (GRCm39) |
I112F |
probably damaging |
Het |
| Stk4 |
C |
A |
2: 163,993,601 (GRCm39) |
S77R |
possibly damaging |
Het |
| Stk4 |
T |
A |
2: 163,993,602 (GRCm39) |
W78R |
probably damaging |
Het |
| Syf2 |
T |
A |
4: 134,662,283 (GRCm39) |
L99* |
probably null |
Het |
| Tas2r104 |
A |
T |
6: 131,661,968 (GRCm39) |
I247K |
probably damaging |
Het |
| Usp15 |
G |
T |
10: 122,967,303 (GRCm39) |
R368S |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,047,905 (GRCm39) |
L20F |
probably benign |
Het |
| Zcchc4 |
A |
T |
5: 52,976,559 (GRCm39) |
H451L |
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 |
|
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'- TGCAACAAAATGGCAATCGTTC -3'
(R):5'- CAGAAGGTTGCTGGTTGACATTAC -3'
Sequencing Primer
(F):5'- TGGCAATCGTTCATTAACCACG -3'
(R):5'- CCAGTGACATTCTAAAGTAAGGC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation