Incidental Mutation 'R4438:Enpep'
ID |
329610 |
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 |
041703-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4438 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
129062824-129126369 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 129077740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 626
(T626P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029658
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029658]
|
AlphaFold |
P16406 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029658
AA Change: T626P
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029658 Gene: ENSMUSG00000028024 AA Change: T626P
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 |
unknown
Transcript: ENSMUST00000169240
AA Change: T202P
|
SMART Domains |
Protein: ENSMUSP00000129759 Gene: ENSMUSG00000028024 AA Change: T202P
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 |
0.2054 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (52/52) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
T |
A |
2: 58,367,739 (GRCm39) |
I141F |
probably benign |
Het |
Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
Adck1 |
C |
T |
12: 88,397,920 (GRCm39) |
Q185* |
probably null |
Het |
Adgrb3 |
T |
C |
1: 25,870,108 (GRCm39) |
|
probably benign |
Het |
Als2cl |
T |
C |
9: 110,714,466 (GRCm39) |
S105P |
probably damaging |
Het |
Asns |
C |
A |
6: 7,675,320 (GRCm39) |
A561S |
probably benign |
Het |
Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
Bst1 |
A |
T |
5: 43,982,682 (GRCm39) |
|
probably null |
Het |
Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,763,191 (GRCm39) |
T1215I |
possibly damaging |
Het |
Csnk1e |
A |
T |
15: 79,305,129 (GRCm39) |
S323T |
probably benign |
Het |
Cyp2j7 |
G |
T |
4: 96,105,646 (GRCm39) |
T288K |
probably benign |
Het |
Dnaaf5 |
T |
A |
5: 139,149,147 (GRCm39) |
I482N |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,392,284 (GRCm39) |
I636T |
probably damaging |
Het |
Fgfr2 |
G |
A |
7: 129,774,660 (GRCm39) |
R509* |
probably null |
Het |
Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
Gpr83 |
T |
C |
9: 14,776,134 (GRCm39) |
Y152H |
probably damaging |
Het |
Hdac7 |
T |
C |
15: 97,705,596 (GRCm39) |
E400G |
probably damaging |
Het |
Hypk |
A |
T |
2: 121,288,475 (GRCm39) |
E82V |
probably damaging |
Het |
Iqub |
C |
A |
6: 24,505,867 (GRCm39) |
A14S |
probably benign |
Het |
Lias |
T |
C |
5: 65,552,787 (GRCm39) |
M130T |
probably damaging |
Het |
Lingo4 |
T |
C |
3: 94,310,204 (GRCm39) |
S381P |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,704,635 (GRCm39) |
T1536A |
probably damaging |
Het |
Moxd2 |
T |
A |
6: 40,860,996 (GRCm39) |
D265V |
probably damaging |
Het |
Mtbp |
C |
A |
15: 55,466,611 (GRCm39) |
S541R |
probably benign |
Het |
Or10j27 |
C |
A |
1: 172,957,869 (GRCm39) |
C305F |
probably benign |
Het |
Or2a54 |
T |
C |
6: 43,093,221 (GRCm39) |
S182P |
probably benign |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Pcsk9 |
G |
T |
4: 106,316,156 (GRCm39) |
Q96K |
probably benign |
Het |
Pramel14 |
T |
C |
4: 143,718,192 (GRCm39) |
Y417C |
probably damaging |
Het |
Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
Setd1a |
A |
G |
7: 127,384,903 (GRCm39) |
N585D |
possibly damaging |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,650,637 (GRCm39) |
|
probably benign |
Het |
Snx19 |
G |
T |
9: 30,339,895 (GRCm39) |
L344F |
probably benign |
Het |
Srfbp1 |
T |
C |
18: 52,621,403 (GRCm39) |
C155R |
probably benign |
Het |
Sspo |
C |
T |
6: 48,464,287 (GRCm39) |
R3914C |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,225,271 (GRCm39) |
S652N |
probably damaging |
Het |
Tmub1 |
A |
C |
5: 24,651,068 (GRCm39) |
L197R |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,926,066 (GRCm39) |
T905A |
possibly damaging |
Het |
Tnfrsf21 |
G |
T |
17: 43,398,733 (GRCm39) |
R613L |
possibly damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,351,283 (GRCm39) |
E97D |
probably benign |
Het |
Vmn2r25 |
A |
G |
6: 123,816,756 (GRCm39) |
I275T |
probably benign |
Het |
Zfp1010 |
T |
G |
2: 176,956,889 (GRCm39) |
Q203P |
possibly damaging |
Het |
Zfp568 |
G |
T |
7: 29,721,721 (GRCm39) |
C221F |
probably benign |
Het |
Zfp91 |
C |
A |
19: 12,755,385 (GRCm39) |
E217* |
probably null |
Het |
Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
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 |
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'- CAGCGGAGAATCTCTGGAAG -3'
(R):5'- CTCTGGGTCTAAATCAAACTTGAC -3'
Sequencing Primer
(F):5'- GAAGAAACAGGGACGCCATGATTC -3'
(R):5'- GGGTCTAAATCAAACTTGACTCTGTG -3'
|
Posted On |
2015-07-21 |