Incidental Mutation 'R8884:Enpep'
| ID |
677150 |
| 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 |
068690-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8884 (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 129115052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 240
(I240N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
| AlphaFold |
P16406 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029658
AA Change: I240N
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: I240N
| 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 |
possibly damaging
Transcript: ENSMUST00000170918
AA Change: I167N
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024
AA Change: I167N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M1
|
12 |
402 |
9.6e-148 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (65/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,354 (GRCm39) |
F168Y |
probably damaging |
Het |
| 4932438H23Rik |
T |
C |
16: 90,852,737 (GRCm39) |
Y133C |
probably damaging |
Het |
| Aasdh |
A |
G |
5: 77,039,641 (GRCm39) |
S223P |
possibly damaging |
Het |
| Abca8a |
T |
C |
11: 109,964,941 (GRCm39) |
D453G |
possibly damaging |
Het |
| Acsl6 |
T |
A |
11: 54,236,728 (GRCm39) |
F541I |
probably damaging |
Het |
| Agfg1 |
A |
T |
1: 82,860,110 (GRCm39) |
K326* |
probably null |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,541 (GRCm39) |
N448S |
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,355 (GRCm39) |
K118E |
possibly damaging |
Het |
| Atp9b |
T |
A |
18: 80,838,562 (GRCm39) |
T451S |
|
Het |
| B4galt6 |
A |
T |
18: 20,822,072 (GRCm39) |
N307K |
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,042,981 (GRCm39) |
M1569I |
probably benign |
Het |
| Cacng6 |
C |
T |
7: 3,478,984 (GRCm39) |
T121I |
probably damaging |
Het |
| Cdc5l |
C |
A |
17: 45,744,467 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,027,860 (GRCm39) |
D535V |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,883,946 (GRCm39) |
F228L |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,719,757 (GRCm39) |
D404E |
probably benign |
Het |
| Commd8 |
G |
A |
5: 72,325,514 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
A |
19: 43,954,615 (GRCm39) |
Q337L |
possibly damaging |
Het |
| Dctn6 |
T |
C |
8: 34,557,933 (GRCm39) |
T180A |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,447,553 (GRCm39) |
E1180G |
possibly damaging |
Het |
| Dock4 |
T |
A |
12: 40,856,884 (GRCm39) |
L1239Q |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,556,550 (GRCm39) |
I469T |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,941,280 (GRCm39) |
T1337I |
probably damaging |
Het |
| Fbxw13 |
T |
A |
9: 109,010,469 (GRCm39) |
M390L |
probably benign |
Het |
| Fgr |
C |
T |
4: 132,713,609 (GRCm39) |
P46S |
probably benign |
Het |
| Galnt1 |
T |
A |
18: 24,400,641 (GRCm39) |
M249K |
probably benign |
Het |
| Gm40460 |
A |
T |
7: 141,794,555 (GRCm39) |
C87* |
probably null |
Het |
| Hcn4 |
C |
T |
9: 58,760,705 (GRCm39) |
R417C |
unknown |
Het |
| Insr |
T |
C |
8: 3,205,679 (GRCm39) |
N1370S |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,414,089 (GRCm39) |
E722K |
|
Het |
| Larp6 |
G |
A |
9: 60,620,682 (GRCm39) |
G65E |
|
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Muc16 |
G |
A |
9: 18,555,496 (GRCm39) |
T3599I |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,403,156 (GRCm39) |
F706L |
unknown |
Het |
| Nbea |
A |
T |
3: 55,712,720 (GRCm39) |
M2119K |
probably benign |
Het |
| Or13a18 |
C |
T |
7: 140,190,616 (GRCm39) |
P171L |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,224 (GRCm39) |
T53S |
probably benign |
Het |
| Paip1 |
G |
A |
13: 119,574,553 (GRCm39) |
V83I |
probably damaging |
Het |
| Pdcd1lg2 |
G |
T |
19: 29,423,318 (GRCm39) |
|
probably null |
Het |
| Pde7a |
G |
A |
3: 19,281,858 (GRCm39) |
A464V |
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,634,213 (GRCm39) |
F155L |
probably damaging |
Het |
| Pimreg |
A |
G |
11: 71,936,513 (GRCm39) |
D192G |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,282,193 (GRCm39) |
D320G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 174,980,730 (GRCm39) |
V98A |
probably benign |
Het |
| Ric3 |
C |
T |
7: 108,637,688 (GRCm39) |
G356D |
probably benign |
Het |
| Rsph4a |
T |
C |
10: 33,781,840 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,794,152 (GRCm39) |
T942I |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,622,910 (GRCm39) |
T214A |
probably damaging |
Het |
| Sipa1l1 |
T |
G |
12: 82,409,871 (GRCm39) |
V595G |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,119,486 (GRCm39) |
H4508L |
probably damaging |
Het |
| Spta1 |
G |
T |
1: 174,045,254 (GRCm39) |
|
probably null |
Het |
| Ssbp2 |
A |
G |
13: 91,836,989 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
G |
10: 5,181,822 (GRCm39) |
Q4171P |
possibly damaging |
Het |
| Tgfb2 |
G |
A |
1: 186,364,907 (GRCm39) |
T232I |
probably damaging |
Het |
| Tmem175 |
A |
G |
5: 108,794,327 (GRCm39) |
S486G |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,821,657 (GRCm39) |
V466A |
probably benign |
Het |
| Treh |
C |
G |
9: 44,595,800 (GRCm39) |
|
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,854,696 (GRCm39) |
S8G |
unknown |
Het |
| Ttc32 |
T |
A |
12: 9,088,083 (GRCm39) |
D103E |
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,458 (GRCm39) |
L68P |
probably damaging |
Het |
| Vmn2r37 |
T |
G |
7: 9,218,916 (GRCm39) |
L489F |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,892,734 (GRCm39) |
T802S |
probably damaging |
Het |
| Wsb2 |
T |
A |
5: 117,508,769 (GRCm39) |
F68I |
probably benign |
Het |
| Zbtb8os |
T |
C |
4: 129,236,924 (GRCm39) |
V113A |
probably benign |
Het |
| Zfp354a |
A |
T |
11: 50,950,805 (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 |
|
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 |
|
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 |
|
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'- CATAAGTTGACAATTTCCTAGAGGC -3'
(R):5'- TTCTTAGACAGAGCTCATGGAAATG -3'
Sequencing Primer
(F):5'- AGGCTTCAGAGTTCCCTT -3'
(R):5'- ACAGAGCTCATGGAAATGTAAATAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation