Incidental Mutation 'R4570:Enpep'
| ID |
342065 |
| 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 |
041794-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4570 (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 129075197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 707
(I707K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
| AlphaFold |
P16406 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029658
AA Change: I707K
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: I707K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198498
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
99% (78/79) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,842,528 (GRCm39) |
D1154G |
probably damaging |
Het |
| Acsl5 |
T |
A |
19: 55,280,206 (GRCm39) |
I493N |
probably damaging |
Het |
| Adgrf5 |
T |
A |
17: 43,756,006 (GRCm39) |
S450T |
probably benign |
Het |
| Ak2 |
T |
C |
4: 128,895,960 (GRCm39) |
V79A |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arfgef2 |
C |
A |
2: 166,698,458 (GRCm39) |
Q643K |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,967,496 (GRCm39) |
D605G |
probably damaging |
Het |
| Ccr5 |
C |
T |
9: 123,924,912 (GRCm39) |
Q172* |
probably null |
Het |
| Cpxm2 |
T |
C |
7: 131,745,435 (GRCm39) |
D130G |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,454,725 (GRCm39) |
V257D |
probably damaging |
Het |
| Cxcl12 |
T |
C |
6: 117,145,633 (GRCm39) |
V6A |
probably benign |
Het |
| Cyp19a1 |
G |
A |
9: 54,100,607 (GRCm39) |
P27S |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,985,427 (GRCm39) |
Y225H |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,529,221 (GRCm39) |
K317* |
probably null |
Het |
| Edil3 |
A |
G |
13: 89,280,016 (GRCm39) |
|
probably benign |
Het |
| Fcrlb |
A |
G |
1: 170,740,189 (GRCm39) |
|
probably null |
Het |
| Flt1 |
C |
T |
5: 147,531,423 (GRCm39) |
A847T |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
| Gemin6 |
C |
T |
17: 80,535,498 (GRCm39) |
R153* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,151,839 (GRCm39) |
M112L |
probably benign |
Het |
| Gm10267 |
C |
T |
18: 44,289,492 (GRCm39) |
M79I |
probably benign |
Het |
| Gm10803 |
A |
G |
2: 93,394,597 (GRCm39) |
Y123C |
unknown |
Het |
| Gm28040 |
C |
A |
1: 133,257,119 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,056,570 (GRCm39) |
|
noncoding transcript |
Het |
| Gprasp1 |
C |
T |
X: 134,703,592 (GRCm39) |
R1262C |
probably damaging |
Het |
| Hba-a2 |
T |
C |
11: 32,247,200 (GRCm39) |
Y141H |
probably damaging |
Het |
| Hmbox1 |
T |
A |
14: 65,061,111 (GRCm39) |
I388F |
possibly damaging |
Het |
| Hs6st1 |
G |
T |
1: 36,142,628 (GRCm39) |
V188L |
possibly damaging |
Het |
| Ipmk |
T |
G |
10: 71,208,569 (GRCm39) |
H118Q |
probably benign |
Het |
| Jhy |
A |
G |
9: 40,822,389 (GRCm39) |
I583T |
probably benign |
Het |
| Kcna2 |
A |
G |
3: 107,012,111 (GRCm39) |
I231V |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,667,439 (GRCm39) |
T367A |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,491,847 (GRCm39) |
C197* |
probably null |
Het |
| Klra2 |
C |
A |
6: 131,220,900 (GRCm39) |
C54F |
probably damaging |
Het |
| Lcn9 |
T |
C |
2: 25,713,591 (GRCm39) |
L39P |
probably benign |
Het |
| Lct |
T |
C |
1: 128,227,641 (GRCm39) |
N1284S |
probably benign |
Het |
| Map6 |
T |
G |
7: 98,985,763 (GRCm39) |
S556A |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,741,812 (GRCm39) |
T3861K |
probably damaging |
Het |
| Mrps12 |
A |
G |
7: 28,439,388 (GRCm39) |
L109P |
probably damaging |
Het |
| Mucl3 |
T |
C |
17: 35,948,883 (GRCm39) |
T239A |
possibly damaging |
Het |
| Mybphl |
G |
A |
3: 108,272,347 (GRCm39) |
C12Y |
possibly damaging |
Het |
| Nek9 |
T |
C |
12: 85,367,508 (GRCm39) |
K388E |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,971,647 (GRCm39) |
V9A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,897,654 (GRCm39) |
|
probably null |
Het |
| Or2h2 |
T |
C |
17: 37,396,471 (GRCm39) |
I195M |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,423,603 (GRCm39) |
I233N |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,451,747 (GRCm39) |
I2183F |
probably damaging |
Het |
| Ppara |
A |
G |
15: 85,671,398 (GRCm39) |
I100V |
probably benign |
Het |
| Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
| Rpl5-ps2 |
G |
T |
2: 154,546,156 (GRCm39) |
|
noncoding transcript |
Het |
| Scmh1 |
T |
A |
4: 120,385,495 (GRCm39) |
H623Q |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,313,902 (GRCm39) |
S1939P |
possibly damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,313,101 (GRCm39) |
|
probably null |
Het |
| Slc7a4 |
G |
A |
16: 17,392,141 (GRCm39) |
T431I |
probably benign |
Het |
| Snupn |
A |
G |
9: 56,885,346 (GRCm39) |
E217G |
probably benign |
Het |
| Spopl |
T |
A |
2: 23,427,497 (GRCm39) |
K212* |
probably null |
Het |
| Strn |
T |
A |
17: 78,984,801 (GRCm39) |
T281S |
possibly damaging |
Het |
| Supt3 |
T |
A |
17: 45,352,116 (GRCm39) |
L265* |
probably null |
Het |
| Taf5l |
G |
A |
8: 124,724,289 (GRCm39) |
T510M |
probably damaging |
Het |
| Tapbp |
C |
A |
17: 34,145,427 (GRCm39) |
D415E |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,178,972 (GRCm39) |
D702E |
probably benign |
Het |
| Tfap2c |
C |
A |
2: 172,399,247 (GRCm39) |
P473Q |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,913,909 (GRCm39) |
N1301S |
probably damaging |
Het |
| Trim33 |
A |
G |
3: 103,237,481 (GRCm39) |
Q179R |
probably damaging |
Het |
| Txnrd2 |
A |
G |
16: 18,287,554 (GRCm39) |
N335S |
probably benign |
Het |
| Uggt1 |
T |
A |
1: 36,189,154 (GRCm39) |
D1444V |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,338,807 (GRCm39) |
L57P |
probably benign |
Het |
| Vmn2r6 |
A |
T |
3: 64,467,068 (GRCm39) |
W144R |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,354 (GRCm39) |
M284K |
probably benign |
Het |
| Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
Het |
| Zfp703 |
T |
C |
8: 27,468,981 (GRCm39) |
V215A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTTGGAGACATACAGAAACAC -3'
(R):5'- CACTGGTCCTTTTCAGTTGAAAGTC -3'
Sequencing Primer
(F):5'- TTGGAGACATACAGAAACACAAATAC -3'
(R):5'- CCTTTTCAGTTGAAAGTCTGGTTTTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation