Incidental Mutation 'R6487:Npepl1'
ID |
517470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npepl1
|
Ensembl Gene |
ENSMUSG00000039263 |
Gene Name |
aminopeptidase-like 1 |
Synonyms |
|
MMRRC Submission |
044619-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R6487 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
173951904-173964495 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 173953525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 152
(E152G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044415]
|
AlphaFold |
Q6NSR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044415
AA Change: E152G
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000042808 Gene: ENSMUSG00000039263 AA Change: E152G
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
32 |
N/A |
INTRINSIC |
Pfam:Peptidase_M17
|
179 |
484 |
1.9e-98 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000125502
AA Change: E76G
|
SMART Domains |
Protein: ENSMUSP00000133202 Gene: ENSMUSG00000039263 AA Change: E76G
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M17
|
104 |
207 |
4.4e-24 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136449
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153957
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,616,446 (GRCm39) |
Y963H |
possibly damaging |
Het |
Alpk2 |
T |
C |
18: 65,399,254 (GRCm39) |
N2108S |
possibly damaging |
Het |
Atp13a1 |
T |
C |
8: 70,252,528 (GRCm39) |
S641P |
probably damaging |
Het |
Bptf |
C |
T |
11: 106,968,552 (GRCm39) |
V981I |
probably damaging |
Het |
Cntrl |
A |
T |
2: 35,012,694 (GRCm39) |
K277N |
possibly damaging |
Het |
Cops5 |
T |
C |
1: 10,108,004 (GRCm39) |
T12A |
probably benign |
Het |
Cyp2c37 |
A |
T |
19: 39,983,025 (GRCm39) |
T205S |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,808,284 (GRCm39) |
V3485A |
probably damaging |
Het |
Ifna6 |
A |
T |
4: 88,745,743 (GRCm39) |
N31Y |
probably damaging |
Het |
Irgm1 |
C |
A |
11: 48,756,777 (GRCm39) |
A345S |
probably benign |
Het |
Kics2 |
T |
C |
10: 121,581,446 (GRCm39) |
L13P |
probably damaging |
Het |
Med13 |
T |
C |
11: 86,221,976 (GRCm39) |
T218A |
probably damaging |
Het |
Mroh2b |
G |
T |
15: 4,976,721 (GRCm39) |
D1225Y |
probably damaging |
Het |
Oog2 |
A |
G |
4: 143,923,055 (GRCm39) |
E440G |
possibly damaging |
Het |
Or4c35 |
A |
T |
2: 89,808,182 (GRCm39) |
D20V |
probably benign |
Het |
Or4k38 |
T |
C |
2: 111,166,012 (GRCm39) |
D137G |
probably benign |
Het |
Or5d41 |
A |
G |
2: 88,054,870 (GRCm39) |
S169P |
possibly damaging |
Het |
Or5h26 |
A |
T |
16: 58,988,536 (GRCm39) |
|
probably null |
Het |
Or8b54 |
A |
G |
9: 38,686,731 (GRCm39) |
Y60C |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
Rims4 |
A |
T |
2: 163,706,817 (GRCm39) |
F187Y |
possibly damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Shisa9 |
C |
T |
16: 12,062,475 (GRCm39) |
T232I |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,214,736 (GRCm39) |
I650N |
probably damaging |
Het |
Tpst2 |
T |
C |
5: 112,455,989 (GRCm39) |
L176P |
probably damaging |
Het |
U2surp |
A |
T |
9: 95,359,565 (GRCm39) |
M650K |
probably damaging |
Het |
Vmn1r17 |
A |
T |
6: 57,338,209 (GRCm39) |
M3K |
possibly damaging |
Het |
Vmn1r55 |
A |
G |
7: 5,149,554 (GRCm39) |
S290P |
probably benign |
Het |
Vmn2r102 |
G |
A |
17: 19,898,169 (GRCm39) |
E395K |
probably damaging |
Het |
Wapl |
T |
A |
14: 34,414,249 (GRCm39) |
H370Q |
probably damaging |
Het |
Xab2 |
T |
C |
8: 3,663,879 (GRCm39) |
S347G |
possibly damaging |
Het |
|
Other mutations in Npepl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00235:Npepl1
|
APN |
2 |
173,962,341 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01651:Npepl1
|
APN |
2 |
173,956,181 (GRCm39) |
splice site |
probably benign |
|
IGL01998:Npepl1
|
APN |
2 |
173,957,993 (GRCm39) |
splice site |
probably benign |
|
IGL02079:Npepl1
|
APN |
2 |
173,961,183 (GRCm39) |
intron |
probably benign |
|
R0081:Npepl1
|
UTSW |
2 |
173,957,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R1236:Npepl1
|
UTSW |
2 |
173,956,273 (GRCm39) |
critical splice donor site |
probably null |
|
R2350:Npepl1
|
UTSW |
2 |
173,953,566 (GRCm39) |
missense |
probably benign |
|
R3780:Npepl1
|
UTSW |
2 |
173,962,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R3950:Npepl1
|
UTSW |
2 |
173,962,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R4688:Npepl1
|
UTSW |
2 |
173,956,235 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5650:Npepl1
|
UTSW |
2 |
173,963,329 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5916:Npepl1
|
UTSW |
2 |
173,963,337 (GRCm39) |
missense |
probably benign |
0.01 |
R6007:Npepl1
|
UTSW |
2 |
173,962,850 (GRCm39) |
missense |
probably benign |
0.03 |
R7267:Npepl1
|
UTSW |
2 |
173,963,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R7881:Npepl1
|
UTSW |
2 |
173,962,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R8103:Npepl1
|
UTSW |
2 |
173,953,002 (GRCm39) |
missense |
probably benign |
0.00 |
R9547:Npepl1
|
UTSW |
2 |
173,962,030 (GRCm39) |
missense |
probably null |
0.88 |
R9740:Npepl1
|
UTSW |
2 |
173,963,283 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Npepl1
|
UTSW |
2 |
173,963,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCTGCTATTGGGAGAGTC -3'
(R):5'- TGCATAATCAAATCACAGCTGC -3'
Sequencing Primer
(F):5'- AGAGTCCTGGTGGTGTCCC -3'
(R):5'- TGCACCAAACGGAGACCTG -3'
|
Posted On |
2018-05-21 |