Incidental Mutation 'R8050:Enpep'
| ID |
618975 |
| 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 |
067487-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
129062824-129126369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129099165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 437
(V437E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
| AlphaFold |
P16406 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029658
AA Change: V437E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: V437E
| 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: V13E
| 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: V364E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M1
|
12 |
402 |
9.6e-148 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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 |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,677 (GRCm39) |
V194E |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,561,296 (GRCm39) |
N5406S |
probably damaging |
Het |
| Arhgef38 |
T |
A |
3: 132,843,323 (GRCm39) |
R416* |
probably null |
Het |
| Asb7 |
T |
A |
7: 66,328,932 (GRCm39) |
Q36L |
probably benign |
Het |
| Bbof1 |
G |
A |
12: 84,457,991 (GRCm39) |
M85I |
probably benign |
Het |
| Bin1 |
T |
G |
18: 32,539,198 (GRCm39) |
F44V |
probably damaging |
Het |
| Bnc2 |
C |
A |
4: 84,210,573 (GRCm39) |
V599L |
probably benign |
Het |
| Bnip3l |
A |
G |
14: 67,226,651 (GRCm39) |
S181P |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,066,442 (GRCm39) |
L374P |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,571,633 (GRCm39) |
I424T |
probably benign |
Het |
| Cdhr2 |
G |
A |
13: 54,882,035 (GRCm39) |
V1162M |
probably damaging |
Het |
| Dgkb |
G |
A |
12: 38,174,216 (GRCm39) |
E181K |
probably benign |
Het |
| Dnase1 |
A |
T |
16: 3,855,861 (GRCm39) |
D64V |
probably damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,719,767 (GRCm39) |
I433T |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,592 (GRCm39) |
R149H |
probably benign |
Het |
| Eif1ad8 |
G |
A |
12: 87,563,911 (GRCm39) |
R82Q |
possibly damaging |
Het |
| Esrp1 |
A |
T |
4: 11,338,767 (GRCm39) |
V679D |
probably damaging |
Het |
| Fa2h |
T |
A |
8: 112,074,817 (GRCm39) |
|
probably null |
Het |
| Fabp1 |
G |
A |
6: 71,176,956 (GRCm39) |
E16K |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,614,810 (GRCm39) |
S624T |
probably benign |
Het |
| Gemin5 |
G |
A |
11: 58,019,686 (GRCm39) |
R1128W |
probably benign |
Het |
| H2bc8 |
T |
C |
13: 23,755,841 (GRCm39) |
S79P |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,057,492 (GRCm39) |
H896R |
probably benign |
Het |
| Hsf1 |
T |
A |
15: 76,382,481 (GRCm39) |
I284K |
probably benign |
Het |
| Igkv3-2 |
T |
A |
6: 70,675,988 (GRCm39) |
I99N |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,503,784 (GRCm39) |
I163F |
possibly damaging |
Het |
| Jak2 |
T |
C |
19: 29,275,732 (GRCm39) |
I724T |
probably damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,330,408 (GRCm39) |
T261S |
probably benign |
Het |
| Kctd20 |
G |
T |
17: 29,171,732 (GRCm39) |
|
probably null |
Het |
| Kif28 |
C |
T |
1: 179,537,014 (GRCm39) |
V490M |
probably benign |
Het |
| Kif9 |
T |
C |
9: 110,348,208 (GRCm39) |
L677P |
probably damaging |
Het |
| Klhl18 |
T |
C |
9: 110,257,829 (GRCm39) |
Y537C |
probably damaging |
Het |
| Mmut |
T |
A |
17: 41,254,784 (GRCm39) |
I331K |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,089,228 (GRCm39) |
S1119R |
probably damaging |
Het |
| Napepld |
C |
A |
5: 21,870,319 (GRCm39) |
E366D |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,895,402 (GRCm39) |
V1540A |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,111,738 (GRCm39) |
I130L |
probably benign |
Het |
| Opcml |
T |
C |
9: 28,724,640 (GRCm39) |
V146A |
probably damaging |
Het |
| Or2g7 |
T |
C |
17: 38,378,370 (GRCm39) |
S103P |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,764 (GRCm39) |
L63H |
probably damaging |
Het |
| Or7e178 |
C |
T |
9: 20,225,941 (GRCm39) |
D92N |
probably damaging |
Het |
| Pappa2 |
A |
C |
1: 158,675,970 (GRCm39) |
C925W |
probably damaging |
Het |
| Parp12 |
T |
A |
6: 39,066,038 (GRCm39) |
N562Y |
probably damaging |
Het |
| Patj |
C |
A |
4: 98,427,201 (GRCm39) |
H1198Q |
probably benign |
Het |
| Pcyox1 |
T |
A |
6: 86,366,128 (GRCm39) |
K362M |
possibly damaging |
Het |
| Pcyt2 |
T |
C |
11: 120,501,765 (GRCm39) |
Y350C |
probably benign |
Het |
| Pkd1 |
A |
T |
17: 24,784,617 (GRCm39) |
T388S |
probably benign |
Het |
| Prl3d1 |
T |
A |
13: 27,284,011 (GRCm39) |
Y193* |
probably null |
Het |
| Psme1 |
A |
T |
14: 55,817,056 (GRCm39) |
D15V |
possibly damaging |
Het |
| Qrsl1 |
G |
A |
10: 43,750,631 (GRCm39) |
R476C |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,315,441 (GRCm39) |
N2054D |
probably damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,066,052 (GRCm39) |
K298* |
probably null |
Het |
| Slc22a27 |
A |
T |
19: 7,857,532 (GRCm39) |
M355K |
probably benign |
Het |
| Spp1 |
T |
A |
5: 104,588,280 (GRCm39) |
H227Q |
probably benign |
Het |
| Stam2 |
T |
A |
2: 52,609,785 (GRCm39) |
N75I |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,659,230 (GRCm39) |
T579A |
probably benign |
Het |
| Tbx3 |
A |
G |
5: 119,821,132 (GRCm39) |
D734G |
probably benign |
Het |
| Tmem233 |
G |
T |
5: 116,221,141 (GRCm39) |
S35* |
probably null |
Het |
| Trim43c |
A |
T |
9: 88,722,390 (GRCm39) |
E12V |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,891,540 (GRCm39) |
S463P |
unknown |
Het |
| Uggt2 |
A |
T |
14: 119,263,834 (GRCm39) |
D1065E |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,817,150 (GRCm39) |
N114S |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,396,787 (GRCm39) |
E2377G |
|
Het |
| Virma |
T |
A |
4: 11,528,643 (GRCm39) |
H1243Q |
probably benign |
Het |
| Vmn2r3 |
A |
T |
3: 64,178,714 (GRCm39) |
V517D |
probably damaging |
Het |
| Zfp931 |
T |
C |
2: 177,709,889 (GRCm39) |
K166E |
probably damaging |
Het |
| Zp3 |
T |
A |
5: 136,011,604 (GRCm39) |
Y141N |
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 |
|
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'- TGCTTAGCGGGTAAAGGAGC -3'
(R):5'- CATCAGGTTTGGTGCAGTTTAAAG -3'
Sequencing Primer
(F):5'- CTTAGCGGGTAAAGGAGCTTGAC -3'
(R):5'- ACAGGCTTGATCGTACAGCATTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation