Incidental Mutation 'IGL02096:Aopep'
ID |
281119 |
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 # |
IGL02096
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 63208903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 340
(A340E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021911]
[ENSMUST00000091560]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021911
AA Change: A338E
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000021911 Gene: ENSMUSG00000021458 AA Change: A338E
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
AA Change: A340E
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000089148 Gene: ENSMUSG00000021458 AA Change: A340E
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 |
unknown
Transcript: ENSMUST00000220863
AA Change: A231E
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 109,993,359 (GRCm39) |
L1584P |
probably damaging |
Het |
Abca9 |
G |
T |
11: 110,056,806 (GRCm39) |
H5N |
probably benign |
Het |
Acox1 |
A |
T |
11: 116,069,024 (GRCm39) |
I371N |
probably damaging |
Het |
Bmp5 |
A |
G |
9: 75,805,833 (GRCm39) |
N445S |
probably damaging |
Het |
Cacna1b |
G |
T |
2: 24,568,927 (GRCm39) |
A999E |
probably benign |
Het |
Cdc27 |
A |
T |
11: 104,419,394 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,308,349 (GRCm39) |
E2134G |
possibly damaging |
Het |
Dnttip2 |
A |
G |
3: 122,078,062 (GRCm39) |
N698S |
possibly damaging |
Het |
Duox1 |
A |
T |
2: 122,174,655 (GRCm39) |
K1271M |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,599,254 (GRCm39) |
Y1870H |
possibly damaging |
Het |
Edem3 |
A |
G |
1: 151,680,470 (GRCm39) |
T532A |
probably benign |
Het |
Epx |
A |
T |
11: 87,760,294 (GRCm39) |
L440Q |
probably damaging |
Het |
F11 |
A |
G |
8: 45,699,791 (GRCm39) |
F432L |
probably benign |
Het |
Fam185a |
C |
A |
5: 21,630,341 (GRCm39) |
P59Q |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,822,204 (GRCm39) |
D5979G |
possibly damaging |
Het |
Furin |
A |
G |
7: 80,043,207 (GRCm39) |
S335P |
probably damaging |
Het |
Gtf3c1 |
T |
A |
7: 125,258,284 (GRCm39) |
Q1262L |
probably damaging |
Het |
Hmmr |
A |
T |
11: 40,598,256 (GRCm39) |
V652E |
probably benign |
Het |
Iapp |
A |
T |
6: 142,249,199 (GRCm39) |
N84I |
probably benign |
Het |
Katnip |
G |
A |
7: 125,413,993 (GRCm39) |
C379Y |
probably benign |
Het |
Mmp17 |
C |
T |
5: 129,675,752 (GRCm39) |
Q304* |
probably null |
Het |
Mpl |
T |
C |
4: 118,314,333 (GRCm39) |
T55A |
possibly damaging |
Het |
Mst1r |
G |
A |
9: 107,794,478 (GRCm39) |
R1219H |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,226,117 (GRCm39) |
|
probably benign |
Het |
Nalcn |
C |
T |
14: 123,831,915 (GRCm39) |
V120I |
probably benign |
Het |
Nt5dc1 |
A |
T |
10: 34,275,806 (GRCm39) |
C134* |
probably null |
Het |
Obscn |
A |
C |
11: 58,971,530 (GRCm39) |
N2228K |
probably damaging |
Het |
Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
Osbpl10 |
T |
C |
9: 115,046,062 (GRCm39) |
M566T |
possibly damaging |
Het |
Pabpc1l |
G |
A |
2: 163,886,267 (GRCm39) |
V466I |
probably benign |
Het |
Pdcd11 |
T |
G |
19: 47,094,860 (GRCm39) |
V548G |
probably benign |
Het |
Prss27 |
G |
T |
17: 24,263,951 (GRCm39) |
K212N |
possibly damaging |
Het |
Ranbp2 |
T |
A |
10: 58,297,789 (GRCm39) |
S399T |
probably damaging |
Het |
Rgs19 |
A |
G |
2: 181,331,076 (GRCm39) |
S159P |
probably damaging |
Het |
Sh2b1 |
A |
G |
7: 126,068,465 (GRCm39) |
S449P |
probably damaging |
Het |
Slc6a18 |
T |
A |
13: 73,820,870 (GRCm39) |
Y238F |
probably benign |
Het |
Stx11 |
T |
C |
10: 12,817,224 (GRCm39) |
I167V |
probably benign |
Het |
Sucnr1 |
A |
G |
3: 59,994,371 (GRCm39) |
M300V |
possibly damaging |
Het |
Synj2 |
A |
G |
17: 6,040,628 (GRCm39) |
T235A |
probably damaging |
Het |
Ubxn2b |
T |
A |
4: 6,214,749 (GRCm39) |
I261N |
probably damaging |
Het |
Vmn2r43 |
G |
A |
7: 8,260,512 (GRCm39) |
|
probably benign |
Het |
Vmn2r45 |
A |
G |
7: 8,484,443 (GRCm39) |
M454T |
probably damaging |
Het |
Vsig2 |
T |
A |
9: 37,451,251 (GRCm39) |
S51T |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,153,964 (GRCm39) |
|
probably benign |
Het |
Wdr6 |
A |
C |
9: 108,453,752 (GRCm39) |
L44V |
probably damaging |
Het |
Zfp1001 |
T |
C |
2: 150,165,634 (GRCm39) |
Y5H |
probably damaging |
Het |
Zfp592 |
T |
C |
7: 80,674,796 (GRCm39) |
Y587H |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,602,254 (GRCm39) |
K399N |
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 |
IGL01384:Aopep
|
APN |
13 |
63,338,290 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
2015-04-16 |