Incidental Mutation 'R8080:Enpep'
ID |
629267 |
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 |
067513-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8080 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
129062824-129126369 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 129092783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 505
(N505K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
AlphaFold |
P16406 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029658
AA Change: N505K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029658 Gene: ENSMUSG00000028024 AA Change: N505K
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 |
|
SMART Domains |
Protein: ENSMUSP00000129759 Gene: ENSMUSG00000028024 AA Change: N81K
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M1
|
1 |
51 |
1.5e-10 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000128872 Gene: ENSMUSG00000028024 AA Change: N432K
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M1
|
12 |
402 |
9.6e-148 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 94.9%
|
Validation Efficiency |
100% (64/64) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aloxe3 |
A |
G |
11: 69,023,900 (GRCm39) |
Q277R |
probably damaging |
Het |
Anapc5 |
T |
C |
5: 122,945,401 (GRCm39) |
N226D |
probably damaging |
Het |
Arb2a |
T |
A |
13: 78,154,565 (GRCm39) |
L316Q |
probably damaging |
Het |
Bcl2l11 |
T |
C |
2: 127,970,586 (GRCm39) |
C12R |
probably damaging |
Het |
Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
Brca2 |
A |
T |
5: 150,463,357 (GRCm39) |
E1040D |
probably benign |
Het |
Cdca2 |
G |
A |
14: 67,915,004 (GRCm39) |
Q752* |
probably null |
Het |
Cntn2 |
T |
C |
1: 132,449,536 (GRCm39) |
D635G |
probably damaging |
Het |
Cntnap5b |
A |
T |
1: 99,999,928 (GRCm39) |
I229F |
probably benign |
Het |
Ctr9 |
G |
A |
7: 110,650,774 (GRCm39) |
E900K |
possibly damaging |
Het |
Dmbt1 |
A |
G |
7: 130,690,500 (GRCm39) |
Y911C |
unknown |
Het |
Egflam |
T |
A |
15: 7,427,561 (GRCm39) |
D2V |
probably benign |
Het |
Fam13a |
A |
G |
6: 58,933,790 (GRCm39) |
S267P |
probably damaging |
Het |
Fancc |
G |
T |
13: 63,550,837 (GRCm39) |
T12K |
|
Het |
Fbxo3 |
A |
G |
2: 103,864,012 (GRCm39) |
Y89C |
probably damaging |
Het |
Garem2 |
A |
G |
5: 30,313,385 (GRCm39) |
Y83C |
probably damaging |
Het |
Gm17079 |
T |
C |
14: 51,930,480 (GRCm39) |
T122A |
|
Het |
Gm3696 |
A |
T |
14: 18,435,071 (GRCm39) |
L71* |
probably null |
Het |
Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
Gmip |
A |
T |
8: 70,268,736 (GRCm39) |
T454S |
possibly damaging |
Het |
Helz2 |
T |
A |
2: 180,880,055 (GRCm39) |
T554S |
probably damaging |
Het |
Hoxc9 |
C |
T |
15: 102,890,551 (GRCm39) |
T156M |
probably benign |
Het |
Hrc |
A |
G |
7: 44,986,262 (GRCm39) |
E471G |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,261,863 (GRCm39) |
I2655V |
probably benign |
Het |
Ighv1-64 |
T |
C |
12: 115,471,463 (GRCm39) |
H18R |
probably benign |
Het |
Jcad |
A |
G |
18: 4,649,270 (GRCm39) |
Y47C |
probably benign |
Het |
Jmjd4 |
A |
G |
11: 59,341,179 (GRCm39) |
T37A |
probably benign |
Het |
Kalrn |
C |
T |
16: 33,796,038 (GRCm39) |
G2915S |
possibly damaging |
Het |
Kdm5d |
T |
C |
Y: 910,742 (GRCm39) |
F285L |
probably benign |
Het |
Lmna |
A |
G |
3: 88,393,868 (GRCm39) |
F237L |
probably damaging |
Het |
Med12l |
A |
G |
3: 59,172,607 (GRCm39) |
K1788E |
probably damaging |
Het |
Mrgprb1 |
T |
C |
7: 48,096,658 (GRCm39) |
|
probably null |
Het |
Myh1 |
T |
A |
11: 67,102,228 (GRCm39) |
Y840N |
probably benign |
Het |
Negr1 |
C |
A |
3: 156,866,357 (GRCm39) |
A302E |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,227,045 (GRCm39) |
V1206A |
possibly damaging |
Het |
Nup205 |
T |
C |
6: 35,204,311 (GRCm39) |
L1399P |
probably damaging |
Het |
Or13a20 |
T |
C |
7: 140,232,387 (GRCm39) |
M165T |
probably benign |
Het |
Or4a81 |
T |
A |
2: 89,618,971 (GRCm39) |
I242F |
possibly damaging |
Het |
Or5v1b |
G |
A |
17: 37,841,555 (GRCm39) |
R229H |
probably benign |
Het |
Or6c69b |
T |
C |
10: 129,626,997 (GRCm39) |
I154V |
probably benign |
Het |
Or8c14-ps1 |
T |
C |
9: 38,101,885 (GRCm39) |
L288S |
unknown |
Het |
Pcdhb4 |
A |
G |
18: 37,442,349 (GRCm39) |
D553G |
probably benign |
Het |
Phip |
A |
G |
9: 82,769,662 (GRCm39) |
L1147P |
probably damaging |
Het |
Phlpp1 |
A |
G |
1: 106,320,706 (GRCm39) |
D1567G |
probably benign |
Het |
Pigz |
T |
C |
16: 31,760,858 (GRCm39) |
C20R |
probably damaging |
Het |
Plpp1 |
A |
G |
13: 113,004,002 (GRCm39) |
K252R |
probably benign |
Het |
Polr2a |
A |
T |
11: 69,625,874 (GRCm39) |
S1759T |
unknown |
Het |
Rbm42 |
G |
T |
7: 30,345,136 (GRCm39) |
P212T |
unknown |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
Slc9a3 |
A |
C |
13: 74,314,146 (GRCm39) |
Q818P |
probably benign |
Het |
St3gal4 |
T |
C |
9: 35,017,617 (GRCm39) |
|
probably null |
Het |
Stard3nl |
G |
T |
13: 19,554,521 (GRCm39) |
A151E |
probably damaging |
Het |
Syt9 |
T |
A |
7: 107,035,997 (GRCm39) |
I338N |
probably benign |
Het |
Ticrr |
A |
T |
7: 79,334,012 (GRCm39) |
|
probably null |
Het |
Tlr4 |
T |
A |
4: 66,757,713 (GRCm39) |
Y169N |
probably damaging |
Het |
Tnc |
A |
C |
4: 63,894,706 (GRCm39) |
I1560S |
possibly damaging |
Het |
Usp7 |
C |
A |
16: 8,515,771 (GRCm39) |
D644Y |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,618,577 (GRCm39) |
I1141T |
possibly damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r60 |
A |
G |
7: 41,790,521 (GRCm39) |
M503V |
probably benign |
Het |
Zfp384 |
T |
C |
6: 125,013,521 (GRCm39) |
S530P |
unknown |
Het |
Zfp600 |
T |
A |
4: 146,133,182 (GRCm39) |
C617S |
unknown |
Het |
Zfp819 |
A |
G |
7: 43,267,148 (GRCm39) |
R544G |
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 |
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 |
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'- ACAGGATAACCCATCTGGCTAG -3'
(R):5'- AAAGTCACTGCTGTTTCTTGGATG -3'
Sequencing Primer
(F):5'- GCTAGTCCAGGTGTCCATCAC -3'
(R):5'- ACTGCTGTTTCTTGGATGGTGTTTG -3'
|
Posted On |
2020-06-30 |