Incidental Mutation 'IGL01384:Aopep'
ID |
78999 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aopep
|
Ensembl Gene |
ENSMUSG00000021458 |
Gene Name |
aminopeptidase O |
Synonyms |
2010111I01Rik, ApO |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
IGL01384
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 63338290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021911]
[ENSMUST00000091560]
[ENSMUST00000222907]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021911
|
SMART Domains |
Protein: ENSMUSP00000021911 Gene: ENSMUSG00000021458
Domain | Start | End | E-Value | Type |
low complexity region
|
143 |
154 |
N/A |
INTRINSIC |
Pfam:Peptidase_M1
|
221 |
359 |
5.4e-11 |
PFAM |
Pfam:Peptidase_M1
|
385 |
558 |
2.3e-15 |
PFAM |
Pfam:Peptidase_MA_2
|
453 |
613 |
1.3e-12 |
PFAM |
Leuk-A4-hydro_C
|
675 |
821 |
3.02e-37 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091560
|
SMART Domains |
Protein: ENSMUSP00000089148 Gene: ENSMUSG00000021458
Domain | Start | End | E-Value | Type |
low complexity region
|
143 |
154 |
N/A |
INTRINSIC |
Pfam:Peptidase_M1
|
220 |
359 |
2.7e-11 |
PFAM |
Pfam:Peptidase_M1
|
386 |
561 |
1.9e-15 |
PFAM |
Leuk-A4-hydro_C
|
676 |
822 |
3.02e-37 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220457
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220863
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221676
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222282
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222907
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] PHENOTYPE: Mice homozygous for one gene trapped allele are phenotypically normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
G |
2: 68,575,749 (GRCm39) |
R683G |
possibly damaging |
Het |
Abca9 |
A |
G |
11: 110,036,463 (GRCm39) |
S549P |
probably damaging |
Het |
Adgrd1 |
T |
C |
5: 129,174,273 (GRCm39) |
S17P |
possibly damaging |
Het |
Ankrd36 |
C |
A |
11: 5,578,348 (GRCm39) |
H546N |
probably benign |
Het |
Bivm |
T |
G |
1: 44,165,907 (GRCm39) |
I119S |
possibly damaging |
Het |
Ccdc88a |
G |
T |
11: 29,453,915 (GRCm39) |
D1693Y |
probably damaging |
Het |
Clcn6 |
G |
A |
4: 148,103,423 (GRCm39) |
R242C |
probably damaging |
Het |
Clec4a2 |
A |
C |
6: 123,104,947 (GRCm39) |
K79T |
probably damaging |
Het |
Cspp1 |
G |
A |
1: 10,186,905 (GRCm39) |
R129H |
probably damaging |
Het |
Cyp2c40 |
A |
T |
19: 39,801,027 (GRCm39) |
M47K |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 49,990,401 (GRCm39) |
D280G |
probably benign |
Het |
Fbxo38 |
A |
G |
18: 62,655,487 (GRCm39) |
S400P |
probably damaging |
Het |
Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,305,242 (GRCm39) |
I184M |
probably benign |
Het |
Gm9949 |
A |
T |
18: 62,317,089 (GRCm39) |
|
probably benign |
Het |
Grtp1 |
A |
T |
8: 13,229,629 (GRCm39) |
V253E |
probably damaging |
Het |
Irag1 |
A |
G |
7: 110,525,708 (GRCm39) |
V148A |
possibly damaging |
Het |
Lamb1 |
T |
A |
12: 31,370,930 (GRCm39) |
M1327K |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,313,846 (GRCm39) |
D2295V |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,284,156 (GRCm39) |
D3874G |
probably null |
Het |
Muc5b |
A |
T |
7: 141,400,555 (GRCm39) |
I509F |
unknown |
Het |
Mug1 |
A |
C |
6: 121,826,433 (GRCm39) |
|
probably benign |
Het |
Myh7 |
A |
T |
14: 55,208,916 (GRCm39) |
L1903Q |
probably damaging |
Het |
Mylk |
G |
T |
16: 34,759,322 (GRCm39) |
A1229S |
probably benign |
Het |
Myorg |
G |
T |
4: 41,498,151 (GRCm39) |
A493E |
probably damaging |
Het |
Ncam1 |
A |
T |
9: 49,421,152 (GRCm39) |
I721N |
possibly damaging |
Het |
Or8b101 |
T |
A |
9: 38,020,858 (GRCm39) |
I287N |
probably damaging |
Het |
Pla2g2c |
A |
G |
4: 138,471,012 (GRCm39) |
K131R |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 92,000,268 (GRCm39) |
I557N |
probably benign |
Het |
Sirpb1b |
T |
A |
3: 15,613,789 (GRCm39) |
N98Y |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,872,365 (GRCm39) |
V1182A |
probably benign |
Het |
Tagap1 |
T |
C |
17: 7,224,282 (GRCm39) |
D138G |
probably benign |
Het |
Tiam2 |
T |
A |
17: 3,477,477 (GRCm39) |
F567I |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,285,425 (GRCm39) |
D1987V |
possibly damaging |
Het |
Vmn1r36 |
A |
T |
6: 66,693,446 (GRCm39) |
I37N |
probably damaging |
Het |
Wif1 |
A |
T |
10: 120,920,855 (GRCm39) |
T226S |
possibly damaging |
Het |
Zfp428 |
A |
G |
7: 24,210,167 (GRCm39) |
D22G |
possibly damaging |
Het |
Zfp521 |
A |
T |
18: 13,976,980 (GRCm39) |
N1144K |
probably benign |
Het |
|
Other mutations in Aopep |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Aopep
|
APN |
13 |
63,347,314 (GRCm39) |
splice site |
probably benign |
|
IGL00329:Aopep
|
APN |
13 |
63,338,977 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00336:Aopep
|
APN |
13 |
63,163,237 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01780:Aopep
|
APN |
13 |
63,357,939 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01876:Aopep
|
APN |
13 |
63,338,336 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02096:Aopep
|
APN |
13 |
63,208,903 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02166:Aopep
|
APN |
13 |
63,163,267 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02184:Aopep
|
APN |
13 |
63,215,925 (GRCm39) |
missense |
possibly damaging |
0.50 |
PIT4378001:Aopep
|
UTSW |
13 |
63,163,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R0139:Aopep
|
UTSW |
13 |
63,338,298 (GRCm39) |
missense |
probably benign |
0.01 |
R1209:Aopep
|
UTSW |
13 |
63,338,878 (GRCm39) |
splice site |
probably null |
|
R1233:Aopep
|
UTSW |
13 |
63,347,334 (GRCm39) |
missense |
probably damaging |
0.96 |
R1756:Aopep
|
UTSW |
13 |
63,215,875 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1786:Aopep
|
UTSW |
13 |
63,357,963 (GRCm39) |
missense |
probably benign |
0.00 |
R1861:Aopep
|
UTSW |
13 |
63,163,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R2130:Aopep
|
UTSW |
13 |
63,357,963 (GRCm39) |
missense |
probably benign |
0.00 |
R2131:Aopep
|
UTSW |
13 |
63,357,963 (GRCm39) |
missense |
probably benign |
0.00 |
R3076:Aopep
|
UTSW |
13 |
63,387,929 (GRCm39) |
missense |
probably damaging |
0.96 |
R3702:Aopep
|
UTSW |
13 |
63,163,144 (GRCm39) |
missense |
probably benign |
0.01 |
R3912:Aopep
|
UTSW |
13 |
63,304,520 (GRCm39) |
nonsense |
probably null |
|
R4512:Aopep
|
UTSW |
13 |
63,304,481 (GRCm39) |
missense |
probably damaging |
0.99 |
R4593:Aopep
|
UTSW |
13 |
63,215,906 (GRCm39) |
missense |
probably benign |
0.01 |
R4596:Aopep
|
UTSW |
13 |
63,215,906 (GRCm39) |
missense |
probably benign |
0.01 |
R4597:Aopep
|
UTSW |
13 |
63,215,906 (GRCm39) |
missense |
probably benign |
0.01 |
R4616:Aopep
|
UTSW |
13 |
63,446,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R4625:Aopep
|
UTSW |
13 |
63,215,906 (GRCm39) |
missense |
probably benign |
0.01 |
R4627:Aopep
|
UTSW |
13 |
63,215,906 (GRCm39) |
missense |
probably benign |
0.01 |
R4630:Aopep
|
UTSW |
13 |
63,215,906 (GRCm39) |
missense |
probably benign |
0.01 |
R4632:Aopep
|
UTSW |
13 |
63,215,906 (GRCm39) |
missense |
probably benign |
0.01 |
R4911:Aopep
|
UTSW |
13 |
63,318,753 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5204:Aopep
|
UTSW |
13 |
63,180,904 (GRCm39) |
missense |
probably benign |
0.15 |
R5210:Aopep
|
UTSW |
13 |
63,215,924 (GRCm39) |
missense |
probably benign |
0.00 |
R5849:Aopep
|
UTSW |
13 |
63,163,312 (GRCm39) |
missense |
probably benign |
0.00 |
R5861:Aopep
|
UTSW |
13 |
63,446,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R5960:Aopep
|
UTSW |
13 |
63,388,087 (GRCm39) |
missense |
probably damaging |
0.99 |
R6021:Aopep
|
UTSW |
13 |
63,208,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6048:Aopep
|
UTSW |
13 |
63,388,139 (GRCm39) |
missense |
probably damaging |
0.99 |
R6379:Aopep
|
UTSW |
13 |
63,216,057 (GRCm39) |
missense |
probably damaging |
0.97 |
R7038:Aopep
|
UTSW |
13 |
63,338,339 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7493:Aopep
|
UTSW |
13 |
63,163,345 (GRCm39) |
missense |
probably benign |
0.01 |
R7788:Aopep
|
UTSW |
13 |
63,304,407 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7970:Aopep
|
UTSW |
13 |
63,180,974 (GRCm39) |
missense |
probably benign |
0.11 |
R7988:Aopep
|
UTSW |
13 |
63,208,954 (GRCm39) |
missense |
probably benign |
0.00 |
R8041:Aopep
|
UTSW |
13 |
63,180,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R8052:Aopep
|
UTSW |
13 |
63,216,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R8053:Aopep
|
UTSW |
13 |
63,338,345 (GRCm39) |
nonsense |
probably null |
|
R8537:Aopep
|
UTSW |
13 |
63,338,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R8554:Aopep
|
UTSW |
13 |
63,444,711 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8681:Aopep
|
UTSW |
13 |
63,338,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R8909:Aopep
|
UTSW |
13 |
63,388,111 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8945:Aopep
|
UTSW |
13 |
63,388,145 (GRCm39) |
missense |
probably null |
1.00 |
R8990:Aopep
|
UTSW |
13 |
63,304,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R9032:Aopep
|
UTSW |
13 |
63,444,681 (GRCm39) |
nonsense |
probably null |
|
R9049:Aopep
|
UTSW |
13 |
63,208,852 (GRCm39) |
missense |
probably benign |
0.00 |
R9166:Aopep
|
UTSW |
13 |
63,318,862 (GRCm39) |
critical splice donor site |
probably null |
|
R9590:Aopep
|
UTSW |
13 |
63,208,923 (GRCm39) |
missense |
probably benign |
|
Z1177:Aopep
|
UTSW |
13 |
63,318,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-05 |