Incidental Mutation 'IGL01093:Xpnpep3'
| ID |
52790 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xpnpep3
|
| Ensembl Gene |
ENSMUSG00000022401 |
| Gene Name |
X-prolyl aminopeptidase 3, mitochondrial |
| Synonyms |
E430012M05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
81284339-81341683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81320969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 283
(Y283N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041609]
[ENSMUST00000163754]
[ENSMUST00000165258]
[ENSMUST00000167799]
|
| AlphaFold |
B7ZMP1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041609
AA Change: Y283N
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401
AA Change: Y283N
| Domain | Start | End | E-Value | Type |
|---|
|
AMP_N
|
67 |
213 |
6.36e-54 |
SMART |
|
Pfam:Peptidase_M24
|
253 |
366 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163754
AA Change: Y283N
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401
AA Change: Y283N
| Domain | Start | End | E-Value | Type |
|---|
|
AMP_N
|
67 |
213 |
6.36e-54 |
SMART |
|
Pfam:Peptidase_M24
|
253 |
481 |
1.1e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167799
|
| SMART Domains |
Protein: ENSMUSP00000126038
Gene: ENSMUSG00000022401
| Domain | Start | End | E-Value | Type |
|---|
|
AMP_N
|
67 |
203 |
6.87e-50 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c21 |
C |
T |
13: 4,631,139 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,482,400 (GRCm39) |
L69P |
probably damaging |
Het |
| C3 |
G |
T |
17: 57,530,949 (GRCm39) |
P384Q |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,928,581 (GRCm39) |
E953G |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,619,156 (GRCm39) |
T281A |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,821,081 (GRCm39) |
E1269K |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,145,611 (GRCm39) |
R1012G |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,434,041 (GRCm39) |
Q423L |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,109,678 (GRCm39) |
S569P |
unknown |
Het |
| Ier5 |
A |
G |
1: 154,975,139 (GRCm39) |
I13T |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,337 (GRCm39) |
D1564G |
possibly damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,729 (GRCm39) |
V139A |
probably benign |
Het |
| Naca |
A |
G |
10: 127,883,982 (GRCm39) |
S2138G |
probably damaging |
Het |
| Or1j15 |
T |
G |
2: 36,458,838 (GRCm39) |
V76G |
probably damaging |
Het |
| Or5p59 |
T |
A |
7: 107,702,851 (GRCm39) |
S112T |
probably benign |
Het |
| Or5w14 |
T |
G |
2: 87,541,477 (GRCm39) |
M258L |
possibly damaging |
Het |
| Or6c66 |
A |
C |
10: 129,461,432 (GRCm39) |
F166C |
probably damaging |
Het |
| Or6c74 |
A |
G |
10: 129,869,761 (GRCm39) |
T89A |
probably benign |
Het |
| Pcdhgb8 |
A |
G |
18: 37,958,089 (GRCm39) |
T813A |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,345 (GRCm39) |
T696A |
probably benign |
Het |
| Rif1 |
T |
G |
2: 51,985,960 (GRCm39) |
H648Q |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,582,245 (GRCm39) |
K1070N |
probably benign |
Het |
| Spock3 |
G |
A |
8: 63,801,993 (GRCm39) |
R327Q |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,768,114 (GRCm39) |
I795T |
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,414,726 (GRCm39) |
I1128V |
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,723,081 (GRCm39) |
D174V |
probably damaging |
Het |
| Zfp9 |
C |
T |
6: 118,442,800 (GRCm39) |
A99T |
probably benign |
Het |
| Zfp944 |
A |
G |
17: 22,562,615 (GRCm39) |
|
probably benign |
Het |
| Zscan4c |
G |
A |
7: 10,743,544 (GRCm39) |
C381Y |
probably benign |
Het |
|
| Other mutations in Xpnpep3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Xpnpep3
|
APN |
15 |
81,311,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02219:Xpnpep3
|
APN |
15 |
81,311,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
zebra
|
UTSW |
15 |
81,315,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Xpnpep3
|
UTSW |
15 |
81,311,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB016:Xpnpep3
|
UTSW |
15 |
81,311,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4449:Xpnpep3
|
UTSW |
15 |
81,311,623 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0069:Xpnpep3
|
UTSW |
15 |
81,314,999 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0069:Xpnpep3
|
UTSW |
15 |
81,314,999 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0304:Xpnpep3
|
UTSW |
15 |
81,314,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0518:Xpnpep3
|
UTSW |
15 |
81,311,693 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0521:Xpnpep3
|
UTSW |
15 |
81,311,693 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0639:Xpnpep3
|
UTSW |
15 |
81,315,038 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0725:Xpnpep3
|
UTSW |
15 |
81,315,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Xpnpep3
|
UTSW |
15 |
81,314,968 (GRCm39) |
missense |
probably benign |
|
|
R1840:Xpnpep3
|
UTSW |
15 |
81,311,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2571:Xpnpep3
|
UTSW |
15 |
81,335,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3956:Xpnpep3
|
UTSW |
15 |
81,335,230 (GRCm39) |
splice site |
probably benign |
|
|
R4242:Xpnpep3
|
UTSW |
15 |
81,311,857 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4997:Xpnpep3
|
UTSW |
15 |
81,332,577 (GRCm39) |
nonsense |
probably null |
|
|
R5635:Xpnpep3
|
UTSW |
15 |
81,320,970 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5789:Xpnpep3
|
UTSW |
15 |
81,300,065 (GRCm39) |
intron |
probably benign |
|
|
R6190:Xpnpep3
|
UTSW |
15 |
81,322,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7006:Xpnpep3
|
UTSW |
15 |
81,326,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Xpnpep3
|
UTSW |
15 |
81,298,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7353:Xpnpep3
|
UTSW |
15 |
81,315,088 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7929:Xpnpep3
|
UTSW |
15 |
81,311,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8139:Xpnpep3
|
UTSW |
15 |
81,332,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8434:Xpnpep3
|
UTSW |
15 |
81,311,795 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8463:Xpnpep3
|
UTSW |
15 |
81,332,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Xpnpep3
|
UTSW |
15 |
81,311,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation