Incidental Mutation 'R4878:Enpep'
ID |
375044 |
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 |
042487-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4878 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
129062824-129126369 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 129070420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 829
(M829K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
AlphaFold |
P16406 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029658
AA Change: M829K
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000029658 Gene: ENSMUSG00000028024 AA Change: M829K
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 |
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 |
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
96% (70/73) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
C |
A |
4: 144,340,415 (GRCm39) |
H47N |
possibly damaging |
Het |
Adgrg3 |
A |
T |
8: 95,761,714 (GRCm39) |
N159I |
possibly damaging |
Het |
Agrn |
A |
T |
4: 156,255,302 (GRCm39) |
L1449Q |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Atg2a |
A |
T |
19: 6,300,274 (GRCm39) |
E694V |
probably damaging |
Het |
Ccndbp1 |
T |
A |
2: 120,845,172 (GRCm39) |
L363* |
probably null |
Het |
Cdh16 |
A |
T |
8: 105,344,696 (GRCm39) |
D478E |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,246,252 (GRCm39) |
W735R |
probably benign |
Het |
Cnnm2 |
C |
T |
19: 46,847,522 (GRCm39) |
P682S |
probably benign |
Het |
Daam2 |
C |
A |
17: 49,767,738 (GRCm39) |
R951L |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 49,984,543 (GRCm39) |
F180I |
probably damaging |
Het |
Dnajc6 |
T |
C |
4: 101,456,231 (GRCm39) |
|
probably benign |
Het |
Efemp2 |
A |
T |
19: 5,530,789 (GRCm39) |
|
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,410 (GRCm39) |
D217G |
probably benign |
Het |
Epb41l4a |
A |
G |
18: 33,931,625 (GRCm39) |
V623A |
probably damaging |
Het |
Erlin2 |
T |
A |
8: 27,517,194 (GRCm39) |
|
probably null |
Het |
Fbln2 |
T |
C |
6: 91,233,977 (GRCm39) |
|
probably null |
Het |
Gga3 |
A |
T |
11: 115,482,147 (GRCm39) |
I157N |
probably damaging |
Het |
Gtpbp6 |
C |
T |
5: 110,255,177 (GRCm39) |
|
probably benign |
Het |
Hps4 |
T |
C |
5: 112,523,234 (GRCm39) |
V584A |
probably benign |
Het |
Ighv1-50 |
T |
C |
12: 115,083,567 (GRCm39) |
Y51C |
probably benign |
Het |
Kif13b |
T |
C |
14: 65,043,603 (GRCm39) |
L1801P |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,689,923 (GRCm39) |
I330V |
probably damaging |
Het |
Klb |
A |
T |
5: 65,505,833 (GRCm39) |
R27W |
probably damaging |
Het |
Lrif1 |
A |
T |
3: 106,642,956 (GRCm39) |
K169M |
probably damaging |
Het |
Lrrc37 |
A |
G |
11: 103,508,717 (GRCm39) |
|
probably benign |
Het |
Met |
A |
G |
6: 17,549,058 (GRCm39) |
D970G |
probably damaging |
Het |
Mical3 |
A |
T |
6: 120,946,348 (GRCm39) |
M1051K |
possibly damaging |
Het |
Mios |
A |
G |
6: 8,215,094 (GRCm39) |
N97D |
probably benign |
Het |
Msh5 |
G |
A |
17: 35,257,432 (GRCm39) |
R321C |
probably damaging |
Het |
Mybpc1 |
T |
C |
10: 88,387,292 (GRCm39) |
Q473R |
possibly damaging |
Het |
Ncoa1 |
C |
T |
12: 4,325,004 (GRCm39) |
G970D |
probably damaging |
Het |
Neb |
T |
C |
2: 52,109,406 (GRCm39) |
Y232C |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,891,333 (GRCm39) |
S429P |
probably damaging |
Het |
Notch3 |
C |
T |
17: 32,366,059 (GRCm39) |
G1014D |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,587,323 (GRCm39) |
C859S |
probably benign |
Het |
Or1d2 |
T |
C |
11: 74,255,674 (GRCm39) |
Y60H |
probably damaging |
Het |
Or2n1d |
T |
G |
17: 38,646,518 (GRCm39) |
F157V |
probably benign |
Het |
Or5m3b |
A |
G |
2: 85,871,799 (GRCm39) |
I47V |
probably benign |
Het |
Otud7b |
T |
A |
3: 96,043,821 (GRCm39) |
|
probably benign |
Het |
Pde1a |
A |
T |
2: 79,708,483 (GRCm39) |
S312T |
probably benign |
Het |
Piwil1 |
G |
T |
5: 128,818,045 (GRCm39) |
R94L |
probably damaging |
Het |
Pnma2 |
G |
A |
14: 67,154,503 (GRCm39) |
W309* |
probably null |
Het |
Ppef2 |
A |
C |
5: 92,376,599 (GRCm39) |
|
probably null |
Het |
Rabac1 |
T |
A |
7: 24,669,392 (GRCm39) |
Q212L |
possibly damaging |
Het |
Rad51 |
T |
C |
2: 118,950,973 (GRCm39) |
|
probably benign |
Het |
Rbm48 |
A |
T |
5: 3,641,853 (GRCm39) |
|
probably benign |
Het |
Rft1 |
C |
T |
14: 30,399,761 (GRCm39) |
S315L |
probably benign |
Het |
Rgs13 |
C |
T |
1: 144,047,217 (GRCm39) |
M1I |
probably null |
Het |
Rhbg |
A |
C |
3: 88,154,760 (GRCm39) |
S215A |
probably benign |
Het |
Rufy2 |
A |
T |
10: 62,837,990 (GRCm39) |
N379I |
probably damaging |
Het |
Slc17a1 |
T |
C |
13: 24,064,637 (GRCm39) |
L367P |
probably damaging |
Het |
Slc25a39 |
G |
A |
11: 102,294,501 (GRCm39) |
R308C |
probably benign |
Het |
Smo |
A |
G |
6: 29,753,570 (GRCm39) |
T149A |
probably benign |
Het |
Sqle |
A |
G |
15: 59,187,934 (GRCm39) |
K81E |
probably benign |
Het |
Tfpi |
A |
G |
2: 84,282,899 (GRCm39) |
|
probably null |
Het |
Tnk2 |
A |
G |
16: 32,498,448 (GRCm39) |
D572G |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,006,808 (GRCm39) |
M1149K |
probably benign |
Het |
Utrn |
T |
A |
10: 12,603,502 (GRCm39) |
Q626L |
probably damaging |
Het |
Virma |
T |
A |
4: 11,544,971 (GRCm39) |
H1643Q |
probably damaging |
Het |
Wnt3 |
G |
T |
11: 103,699,031 (GRCm39) |
G46C |
possibly damaging |
Het |
Zkscan7 |
G |
T |
9: 122,719,865 (GRCm39) |
G184* |
probably null |
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 |
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'- CCTGTAAGGTGTGTCAAACAAGGAG -3'
(R):5'- CAGTACTCACCAAAACTAGAGGTTA -3'
Sequencing Primer
(F):5'- GGACAAGAGGCCGTTATCTGATC -3'
(R):5'- TGCATCTATCCCTGAAGAGACTGG -3'
|
Posted On |
2016-03-17 |