Incidental Mutation 'R6989:Enpep'
ID |
543126 |
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 |
045095-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6989 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
129062824-129126369 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 129074599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Histidine
at position 717
(P717H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
AlphaFold |
P16406 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029658
AA Change: P717H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029658 Gene: ENSMUSG00000028024 AA Change: P717H
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
C |
T |
11: 3,840,076 (GRCm39) |
R107H |
probably damaging |
Het |
4930438A08Rik |
T |
C |
11: 58,178,228 (GRCm39) |
V96A |
possibly damaging |
Het |
Abcc2 |
A |
G |
19: 43,820,611 (GRCm39) |
D1370G |
probably damaging |
Het |
Abcc9 |
T |
A |
6: 142,634,707 (GRCm39) |
N186Y |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,035,414 (GRCm39) |
V106A |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,164,226 (GRCm39) |
F251S |
probably damaging |
Het |
Akr1c6 |
T |
A |
13: 4,499,045 (GRCm39) |
I33N |
probably damaging |
Het |
Alk |
A |
C |
17: 72,204,947 (GRCm39) |
M1075R |
probably benign |
Het |
Amh |
A |
G |
10: 80,641,338 (GRCm39) |
Q86R |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,124,611 (GRCm39) |
Y951H |
probably damaging |
Het |
Arhgap26 |
G |
T |
18: 39,232,682 (GRCm39) |
R119L |
probably damaging |
Het |
Arl8a |
A |
G |
1: 135,074,735 (GRCm39) |
K7R |
probably benign |
Het |
Birc6 |
T |
G |
17: 74,937,984 (GRCm39) |
S2638A |
probably benign |
Het |
Ccdc162 |
T |
G |
10: 41,457,349 (GRCm39) |
Q256H |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,940,888 (GRCm39) |
L679Q |
probably damaging |
Het |
Cpa5 |
T |
A |
6: 30,625,891 (GRCm39) |
H203Q |
probably benign |
Het |
Cpne9 |
A |
T |
6: 113,277,544 (GRCm39) |
D421V |
possibly damaging |
Het |
Cux1 |
A |
T |
5: 136,308,502 (GRCm39) |
C1212* |
probably null |
Het |
Dock9 |
G |
A |
14: 121,864,791 (GRCm39) |
H736Y |
probably damaging |
Het |
Dpp3 |
A |
T |
19: 4,971,195 (GRCm39) |
V214E |
probably damaging |
Het |
Dtx3 |
T |
C |
10: 127,028,746 (GRCm39) |
E161G |
probably benign |
Het |
Ect2 |
A |
T |
3: 27,156,637 (GRCm39) |
Y774* |
probably null |
Het |
Erich3 |
A |
T |
3: 154,469,314 (GRCm39) |
|
probably benign |
Het |
Fbp2 |
C |
T |
13: 63,005,991 (GRCm39) |
A41T |
probably damaging |
Het |
Fbxl21 |
T |
C |
13: 56,674,874 (GRCm39) |
V75A |
probably damaging |
Het |
Fkbp5 |
C |
T |
17: 28,634,919 (GRCm39) |
D197N |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,807,298 (GRCm39) |
T1206A |
probably benign |
Het |
Ggt7 |
A |
G |
2: 155,345,380 (GRCm39) |
V156A |
probably benign |
Het |
Gpi1 |
T |
C |
7: 33,901,945 (GRCm39) |
K156R |
probably damaging |
Het |
Gpx5 |
T |
C |
13: 21,471,669 (GRCm39) |
D178G |
probably damaging |
Het |
Grm7 |
G |
A |
6: 111,184,766 (GRCm39) |
E366K |
probably damaging |
Het |
Haao |
T |
C |
17: 84,139,103 (GRCm39) |
Q277R |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,060,753 (GRCm39) |
S694P |
|
Het |
Lrp10 |
A |
G |
14: 54,705,950 (GRCm39) |
D380G |
probably benign |
Het |
Lrp2 |
C |
A |
2: 69,302,799 (GRCm39) |
D2977Y |
probably damaging |
Het |
Map2 |
T |
A |
1: 66,454,065 (GRCm39) |
M985K |
probably benign |
Het |
Met |
C |
A |
6: 17,535,927 (GRCm39) |
N784K |
possibly damaging |
Het |
Met |
T |
A |
6: 17,535,928 (GRCm39) |
Y65N |
probably damaging |
Het |
Muc6 |
T |
G |
7: 141,226,246 (GRCm39) |
|
probably benign |
Het |
Numbl |
T |
A |
7: 26,980,265 (GRCm39) |
W416R |
probably damaging |
Het |
Nup160 |
G |
A |
2: 90,537,364 (GRCm39) |
S746N |
probably benign |
Het |
Pcca |
G |
A |
14: 122,887,700 (GRCm39) |
G102D |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,163 (GRCm39) |
Y493F |
possibly damaging |
Het |
Psmc2 |
T |
A |
5: 22,006,217 (GRCm39) |
F243L |
possibly damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rpn1 |
G |
T |
6: 88,076,285 (GRCm39) |
V357L |
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,433,856 (GRCm39) |
F712S |
possibly damaging |
Het |
Scgb1b10 |
T |
A |
7: 31,800,574 (GRCm39) |
D54E |
probably benign |
Het |
Scn5a |
A |
G |
9: 119,315,395 (GRCm39) |
I1771T |
probably damaging |
Het |
Sec14l1 |
A |
G |
11: 117,047,220 (GRCm39) |
I633V |
probably damaging |
Het |
Slc17a6 |
T |
C |
7: 51,311,224 (GRCm39) |
Y313H |
possibly damaging |
Het |
Slc18a1 |
G |
A |
8: 69,491,514 (GRCm39) |
T500I |
probably benign |
Het |
Slx4 |
G |
A |
16: 3,813,702 (GRCm39) |
A93V |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,107,974 (GRCm39) |
S148P |
probably benign |
Het |
Tbc1d15 |
A |
T |
10: 115,045,474 (GRCm39) |
C497S |
probably damaging |
Het |
Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
Trav3-3 |
C |
A |
14: 53,903,802 (GRCm39) |
P40Q |
possibly damaging |
Het |
Trpv6 |
A |
T |
6: 41,602,390 (GRCm39) |
L332Q |
probably damaging |
Het |
Ube2t |
T |
G |
1: 134,897,033 (GRCm39) |
V55G |
probably damaging |
Het |
Ufm1 |
T |
C |
3: 53,765,402 (GRCm39) |
K69E |
probably damaging |
Het |
Utp20 |
T |
C |
10: 88,614,102 (GRCm39) |
D1284G |
probably benign |
Het |
Vil1 |
C |
T |
1: 74,463,113 (GRCm39) |
T432I |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,448,727 (GRCm39) |
I567K |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,646,488 (GRCm39) |
V1023D |
probably damaging |
Het |
Zfp429 |
A |
G |
13: 67,538,080 (GRCm39) |
Y455H |
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 |
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'- CCATCTTGCATGCGAATCC -3'
(R):5'- TTTCCATAGCACTTTGGCAAGC -3'
Sequencing Primer
(F):5'- CTTGCATGCGAATCCTAAGATAGAG -3'
(R):5'- ATAGCACTTTGGCAAGCTGCTTG -3'
|
Posted On |
2018-11-28 |