Incidental Mutation 'IGL00336:Aopep'
ID |
4293 |
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 # |
IGL00336
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
63112707-63473910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63163237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 86
(D86V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021911]
[ENSMUST00000091560]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021911
AA Change: D86V
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000021911 Gene: ENSMUSG00000021458 AA Change: D86V
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 |
possibly damaging
Transcript: ENSMUST00000091560
AA Change: D86V
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000089148 Gene: ENSMUSG00000021458 AA Change: D86V
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 |
probably benign
Transcript: ENSMUST00000220863
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222181
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
A |
G |
5: 138,645,366 (GRCm39) |
Y417C |
probably damaging |
Het |
Adam28 |
T |
A |
14: 68,859,569 (GRCm39) |
H548L |
possibly damaging |
Het |
Agbl3 |
A |
T |
6: 34,823,771 (GRCm39) |
D812V |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,098,203 (GRCm39) |
L305Q |
probably damaging |
Het |
Arhgef38 |
A |
G |
3: 132,837,812 (GRCm39) |
V706A |
probably benign |
Het |
Arl15 |
A |
G |
13: 114,291,288 (GRCm39) |
I171V |
probably benign |
Het |
Cacna1s |
C |
A |
1: 136,012,011 (GRCm39) |
Y237* |
probably null |
Het |
Ccnt1 |
T |
C |
15: 98,462,990 (GRCm39) |
T61A |
possibly damaging |
Het |
Col25a1 |
T |
A |
3: 129,975,433 (GRCm39) |
|
probably benign |
Het |
Col4a1 |
T |
A |
8: 11,290,077 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
T |
C |
3: 35,970,455 (GRCm39) |
E130G |
possibly damaging |
Het |
Dnah7b |
G |
A |
1: 46,181,309 (GRCm39) |
M1065I |
probably benign |
Het |
Ephb2 |
T |
G |
4: 136,384,795 (GRCm39) |
K872T |
probably damaging |
Het |
Fga |
G |
A |
3: 82,938,981 (GRCm39) |
G452D |
probably damaging |
Het |
Flrt1 |
T |
A |
19: 7,074,277 (GRCm39) |
N90I |
probably damaging |
Het |
Fut10 |
T |
A |
8: 31,685,319 (GRCm39) |
|
probably null |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gpr137b |
T |
C |
13: 13,549,000 (GRCm39) |
|
probably benign |
Het |
Gprc5d |
G |
A |
6: 135,093,488 (GRCm39) |
Q140* |
probably null |
Het |
Ifi27l2b |
T |
C |
12: 103,417,476 (GRCm39) |
K237R |
unknown |
Het |
Ipo8 |
A |
T |
6: 148,684,284 (GRCm39) |
M836K |
possibly damaging |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Lama1 |
A |
T |
17: 68,120,943 (GRCm39) |
H2693L |
probably benign |
Het |
Lrrc23 |
A |
G |
6: 124,755,889 (GRCm39) |
W40R |
probably damaging |
Het |
Minar1 |
T |
C |
9: 89,485,196 (GRCm39) |
D67G |
probably damaging |
Het |
Morn2 |
C |
A |
17: 80,602,933 (GRCm39) |
|
probably benign |
Het |
Ms4a6b |
T |
A |
19: 11,506,854 (GRCm39) |
N214K |
possibly damaging |
Het |
Nags |
A |
T |
11: 102,039,892 (GRCm39) |
S527C |
probably damaging |
Het |
Ndst1 |
C |
T |
18: 60,841,028 (GRCm39) |
G218D |
probably damaging |
Het |
Or10j5 |
G |
A |
1: 172,785,045 (GRCm39) |
V228M |
probably benign |
Het |
Or5b94 |
T |
A |
19: 12,651,924 (GRCm39) |
Y118* |
probably null |
Het |
Or8h7 |
C |
T |
2: 86,720,589 (GRCm39) |
C310Y |
probably benign |
Het |
Oxa1l |
G |
T |
14: 54,600,802 (GRCm39) |
G92* |
probably null |
Het |
Parp16 |
A |
T |
9: 65,137,245 (GRCm39) |
E157V |
probably damaging |
Het |
Pcdh17 |
A |
T |
14: 84,684,984 (GRCm39) |
I484F |
probably damaging |
Het |
Pex16 |
A |
G |
2: 92,209,580 (GRCm39) |
R263G |
probably benign |
Het |
Pkd1l3 |
G |
A |
8: 110,356,869 (GRCm39) |
E765K |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,640,350 (GRCm39) |
V532A |
probably damaging |
Het |
Polq |
A |
G |
16: 36,885,609 (GRCm39) |
|
probably benign |
Het |
Pramel5 |
T |
C |
4: 143,998,191 (GRCm39) |
T351A |
probably damaging |
Het |
Prokr1 |
A |
T |
6: 87,565,593 (GRCm39) |
I84N |
probably damaging |
Het |
Prss30 |
A |
T |
17: 24,192,695 (GRCm39) |
S162T |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,287,806 (GRCm39) |
K25E |
probably damaging |
Het |
Rapsn |
A |
G |
2: 90,866,205 (GRCm39) |
T22A |
probably damaging |
Het |
Rhoj |
G |
T |
12: 75,355,680 (GRCm39) |
G9V |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,340,169 (GRCm39) |
R3467G |
probably benign |
Het |
Rreb1 |
C |
A |
13: 38,113,622 (GRCm39) |
S327* |
probably null |
Het |
Scn5a |
G |
A |
9: 119,315,290 (GRCm39) |
P1806L |
probably damaging |
Het |
Sema6a |
C |
A |
18: 47,423,042 (GRCm39) |
|
probably null |
Het |
Stag3 |
G |
A |
5: 138,295,921 (GRCm39) |
E416K |
probably benign |
Het |
Stpg1 |
T |
A |
4: 135,256,856 (GRCm39) |
S216T |
possibly damaging |
Het |
Tfeb |
C |
A |
17: 48,102,589 (GRCm39) |
N426K |
probably benign |
Het |
Trp53bp1 |
G |
T |
2: 121,087,060 (GRCm39) |
Q199K |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,155,877 (GRCm39) |
D2234G |
probably damaging |
Het |
Ush1c |
T |
G |
7: 45,846,194 (GRCm39) |
Q866P |
probably benign |
Het |
Vdr |
T |
A |
15: 97,782,735 (GRCm39) |
D29V |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,853,224 (GRCm39) |
V2439A |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,342,942 (GRCm39) |
S1728P |
possibly damaging |
Het |
Zfp9 |
A |
G |
6: 118,441,436 (GRCm39) |
S409P |
probably damaging |
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 |
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 |
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 |
2012-04-20 |