Incidental Mutation 'R5940:Enpep'
| ID |
462474 |
| 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 |
044132-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5940 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
129062824-129126369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129106227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 333
(Y333F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
| AlphaFold |
P16406 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029658
AA Change: Y333F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: Y333F
| 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: Y260F
|
| SMART Domains |
Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024
AA Change: Y260F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M1
|
12 |
402 |
9.6e-148 |
PFAM |
|
| Meta Mutation Damage Score |
0.3392 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (88/92) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,645 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Aasdh |
G |
T |
5: 77,030,745 (GRCm39) |
S618R |
probably benign |
Het |
| Alpk1 |
T |
G |
3: 127,464,595 (GRCm39) |
T1228P |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,756,316 (GRCm39) |
V850A |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,969,098 (GRCm39) |
|
probably null |
Het |
| Ash1l |
C |
T |
3: 88,891,343 (GRCm39) |
T1074I |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,517,244 (GRCm39) |
S1297F |
possibly damaging |
Het |
| Cchcr1 |
G |
A |
17: 35,835,890 (GRCm39) |
R284Q |
probably damaging |
Het |
| Cd93 |
A |
T |
2: 148,284,152 (GRCm39) |
I398N |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,839,992 (GRCm39) |
D638V |
probably damaging |
Het |
| Chrd |
G |
T |
16: 20,553,336 (GRCm39) |
R226L |
probably null |
Het |
| Clvs1 |
A |
T |
4: 9,449,443 (GRCm39) |
N344I |
possibly damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,774,821 (GRCm39) |
I111N |
probably damaging |
Het |
| Cysltr2 |
T |
A |
14: 73,267,389 (GRCm39) |
Y107F |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Czib |
A |
G |
4: 107,750,485 (GRCm39) |
|
probably benign |
Het |
| Defb47 |
A |
T |
14: 63,238,359 (GRCm39) |
E28D |
probably benign |
Het |
| Dnajc30 |
T |
A |
5: 135,093,413 (GRCm39) |
Y103* |
probably null |
Het |
| Drap1 |
T |
C |
19: 5,473,028 (GRCm39) |
T160A |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,380,002 (GRCm39) |
E2249G |
possibly damaging |
Het |
| E2f8 |
T |
A |
7: 48,520,825 (GRCm39) |
I499F |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,512,048 (GRCm39) |
Y116N |
probably damaging |
Het |
| Ecrg4 |
C |
T |
1: 43,776,401 (GRCm39) |
R41* |
probably null |
Het |
| Ect2 |
C |
A |
3: 27,169,614 (GRCm39) |
E746D |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,943,798 (GRCm39) |
V897A |
probably benign |
Het |
| Gja3 |
T |
A |
14: 57,273,317 (GRCm39) |
S352C |
probably damaging |
Het |
| Gpr153 |
C |
A |
4: 152,367,832 (GRCm39) |
P561Q |
probably benign |
Het |
| Hlcs |
T |
C |
16: 93,935,571 (GRCm39) |
M574V |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,532,973 (GRCm39) |
V3070A |
probably benign |
Het |
| Hsd3b2 |
G |
T |
3: 98,619,287 (GRCm39) |
N219K |
probably benign |
Het |
| Htra3 |
T |
C |
5: 35,810,324 (GRCm39) |
I453V |
possibly damaging |
Het |
| Klrc1 |
A |
T |
6: 129,651,898 (GRCm39) |
M220K |
possibly damaging |
Het |
| Kntc1 |
T |
G |
5: 123,924,258 (GRCm39) |
I1048S |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,712 (GRCm39) |
S243G |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,326,674 (GRCm39) |
D2822V |
probably damaging |
Het |
| Mcu |
T |
A |
10: 59,292,554 (GRCm39) |
I42F |
possibly damaging |
Het |
| Mkln1 |
T |
A |
6: 31,466,307 (GRCm39) |
D521E |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,170,330 (GRCm39) |
N5D |
possibly damaging |
Het |
| Msh3 |
T |
G |
13: 92,386,351 (GRCm39) |
N838T |
probably damaging |
Het |
| Msl2 |
T |
A |
9: 100,978,290 (GRCm39) |
C221* |
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,145,832 (GRCm39) |
S1310P |
probably benign |
Het |
| Ncoa6 |
A |
T |
2: 155,257,785 (GRCm39) |
M586K |
probably damaging |
Het |
| Ndel1 |
C |
T |
11: 68,713,397 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,355,068 (GRCm39) |
|
probably benign |
Het |
| Nes |
T |
G |
3: 87,883,259 (GRCm39) |
V506G |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,339,372 (GRCm39) |
K200E |
probably damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,425,515 (GRCm39) |
K295E |
probably damaging |
Het |
| Or4f54 |
G |
A |
2: 111,122,729 (GRCm39) |
V39M |
possibly damaging |
Het |
| Or5b123 |
T |
A |
19: 13,596,517 (GRCm39) |
|
probably null |
Het |
| Or6s1 |
T |
A |
14: 51,308,179 (GRCm39) |
I224L |
probably damaging |
Het |
| Or8b4 |
C |
T |
9: 37,830,733 (GRCm39) |
T260I |
probably damaging |
Het |
| Or8g51 |
G |
T |
9: 38,609,007 (GRCm39) |
Y218* |
probably null |
Het |
| Or8k38 |
A |
T |
2: 86,488,394 (GRCm39) |
M136K |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pde1a |
A |
G |
2: 79,718,183 (GRCm39) |
|
probably null |
Het |
| Pds5a |
A |
G |
5: 65,801,328 (GRCm39) |
|
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,590,719 (GRCm39) |
|
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,473,450 (GRCm39) |
V292E |
probably benign |
Het |
| Polg |
A |
G |
7: 79,103,819 (GRCm39) |
V879A |
possibly damaging |
Het |
| Ppargc1a |
C |
T |
5: 51,631,253 (GRCm39) |
A459T |
probably damaging |
Het |
| Prorp |
T |
A |
12: 55,351,659 (GRCm39) |
W323R |
probably damaging |
Het |
| Psip1 |
T |
C |
4: 83,394,559 (GRCm39) |
E83G |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,159,847 (GRCm39) |
D843G |
probably benign |
Het |
| Rnpepl1 |
G |
T |
1: 92,845,434 (GRCm39) |
C451F |
probably damaging |
Het |
| Rrp1 |
T |
C |
10: 78,241,249 (GRCm39) |
D206G |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,798,703 (GRCm39) |
D1492E |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc16a6 |
C |
T |
11: 109,364,022 (GRCm39) |
|
probably benign |
Homo |
| Slc7a6os |
A |
G |
8: 106,937,437 (GRCm39) |
S37P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,495,102 (GRCm39) |
S1140T |
probably damaging |
Het |
| Thoc6 |
C |
A |
17: 23,889,315 (GRCm39) |
R115L |
probably benign |
Het |
| Tmem63c |
C |
T |
12: 87,121,946 (GRCm39) |
H385Y |
probably benign |
Het |
| Trpm8 |
G |
T |
1: 88,279,137 (GRCm39) |
E649* |
probably null |
Het |
| Usf1 |
A |
G |
1: 171,245,347 (GRCm39) |
E253G |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,801,545 (GRCm39) |
T443A |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,927,660 (GRCm39) |
Y93C |
probably damaging |
Het |
| Zfp597 |
A |
T |
16: 3,683,685 (GRCm39) |
I357N |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,644,064 (GRCm39) |
I497V |
possibly damaging |
Het |
| Zxdc |
T |
C |
6: 90,347,307 (GRCm39) |
S223P |
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 |
|
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'- TTGAGCTTGTAGTTCCCGTCAG -3'
(R):5'- GTCAGTTATACCATGCCTCACGG -3'
Sequencing Primer
(F):5'- CGAAGTGCATGCACATAC -3'
(R):5'- GTTTGTGGGTGTGTGTGTCATCAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation