Incidental Mutation 'IGL02634:Enpep'
ID |
301447 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Enpep
|
Ensembl Gene |
ENSMUSG00000028024 |
Gene Name |
glutamyl aminopeptidase |
Synonyms |
Bp-1/6C3, 6030431M22Rik, Ly51, Ly-51, aminopeptidase-A, APA |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02634
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
129062824-129126369 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129103506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 361
(E361G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
AlphaFold |
P16406 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029658
AA Change: E361G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029658 Gene: ENSMUSG00000028024 AA Change: E361G
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 |
probably benign
Transcript: ENSMUST00000169240
|
SMART Domains |
Protein: ENSMUSP00000129759 Gene: ENSMUSG00000028024
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M1
|
1 |
51 |
1.5e-10 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000170918
AA Change: E288G
|
SMART Domains |
Protein: ENSMUSP00000128872 Gene: ENSMUSG00000028024 AA Change: E288G
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M1
|
12 |
402 |
9.6e-148 |
PFAM |
|
Coding Region Coverage |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
T |
A |
11: 50,683,548 (GRCm39) |
C943* |
probably null |
Het |
Arhgef28 |
A |
T |
13: 98,187,566 (GRCm39) |
V243D |
probably benign |
Het |
Arrdc3 |
T |
A |
13: 81,038,884 (GRCm39) |
I62K |
probably damaging |
Het |
Atm |
T |
C |
9: 53,427,863 (GRCm39) |
T416A |
probably benign |
Het |
AW209491 |
A |
G |
13: 14,812,268 (GRCm39) |
T374A |
probably damaging |
Het |
Brcc3 |
T |
C |
X: 74,479,704 (GRCm39) |
|
probably benign |
Het |
Ccdc181 |
T |
G |
1: 164,107,514 (GRCm39) |
S66A |
probably benign |
Het |
Ccdc62 |
T |
C |
5: 124,092,320 (GRCm39) |
I435T |
probably benign |
Het |
Cdc14b |
C |
A |
13: 64,364,117 (GRCm39) |
|
probably benign |
Het |
Chst5 |
A |
G |
8: 112,617,477 (GRCm39) |
S48P |
probably damaging |
Het |
Ciita |
C |
A |
16: 10,326,577 (GRCm39) |
S253Y |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,877,533 (GRCm39) |
R1005H |
probably damaging |
Het |
Dsg4 |
A |
T |
18: 20,591,637 (GRCm39) |
I459F |
probably benign |
Het |
Fblim1 |
T |
C |
4: 141,310,422 (GRCm39) |
D280G |
probably benign |
Het |
Fignl1 |
G |
A |
11: 11,752,756 (GRCm39) |
R100* |
probably null |
Het |
Ggcx |
G |
T |
6: 72,395,286 (GRCm39) |
A126S |
probably damaging |
Het |
Hdgfl1 |
A |
G |
13: 26,953,786 (GRCm39) |
S96P |
probably benign |
Het |
Iqgap2 |
G |
A |
13: 95,764,622 (GRCm39) |
L1541F |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,145,289 (GRCm39) |
E888G |
possibly damaging |
Het |
Kank4 |
T |
A |
4: 98,667,064 (GRCm39) |
Q461L |
probably benign |
Het |
Klhl20 |
C |
T |
1: 160,925,935 (GRCm39) |
V438M |
probably damaging |
Het |
Klrc3 |
A |
T |
6: 129,620,171 (GRCm39) |
S27R |
probably damaging |
Het |
Ksr2 |
T |
C |
5: 117,901,394 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,389,938 (GRCm39) |
S1829N |
probably benign |
Het |
Obscn |
A |
G |
11: 58,945,611 (GRCm39) |
L4585P |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,978 (GRCm39) |
N9S |
probably benign |
Het |
Palm3 |
T |
G |
8: 84,755,494 (GRCm39) |
S335R |
probably damaging |
Het |
Pcsk7 |
C |
T |
9: 45,830,560 (GRCm39) |
A446V |
possibly damaging |
Het |
Penk |
A |
G |
4: 4,134,065 (GRCm39) |
L194P |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,403,063 (GRCm39) |
F2255S |
probably damaging |
Het |
Plcd3 |
G |
A |
11: 102,968,653 (GRCm39) |
S31F |
probably damaging |
Het |
Pou2af2 |
A |
G |
9: 51,203,055 (GRCm39) |
L33P |
possibly damaging |
Het |
Ppp6r2 |
C |
T |
15: 89,159,680 (GRCm39) |
Q456* |
probably null |
Het |
Rbbp8nl |
T |
C |
2: 179,922,688 (GRCm39) |
D235G |
probably benign |
Het |
Ror1 |
T |
A |
4: 100,283,307 (GRCm39) |
N457K |
probably benign |
Het |
Rpgrip1l |
C |
A |
8: 91,951,972 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
T |
C |
5: 141,595,787 (GRCm39) |
F148L |
probably benign |
Het |
Slc45a2 |
A |
T |
15: 11,023,440 (GRCm39) |
H348L |
probably benign |
Het |
Smg8 |
C |
T |
11: 86,977,498 (GRCm39) |
A28T |
probably benign |
Het |
Snx14 |
A |
G |
9: 88,285,356 (GRCm39) |
I436T |
probably damaging |
Het |
Synj2 |
G |
A |
17: 6,080,035 (GRCm39) |
R1088H |
probably damaging |
Het |
Tubb6 |
T |
C |
18: 67,535,366 (GRCm39) |
Y422H |
probably damaging |
Het |
Unc13a |
T |
A |
8: 72,108,345 (GRCm39) |
I503F |
probably benign |
Het |
Unc13d |
A |
G |
11: 115,961,382 (GRCm39) |
|
probably benign |
Het |
Zp1 |
T |
C |
19: 10,896,871 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2015-04-16 |