Incidental Mutation 'IGL01292:Xpnpep3'
| ID |
72935 |
| 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 # |
IGL01292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
81284339-81341683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 81311699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 135
(V135G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041609]
[ENSMUST00000163754]
[ENSMUST00000165258]
[ENSMUST00000167799]
|
| AlphaFold |
B7ZMP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041609
AA Change: V135G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401
AA Change: V135G
| 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 |
noncoding transcript
Transcript: ENSMUST00000163296
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163754
AA Change: V135G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401
AA Change: V135G
| 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 |
noncoding transcript
Transcript: ENSMUST00000164144
|
| 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 |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,831 (GRCm39) |
S1045G |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,926,520 (GRCm39) |
|
probably benign |
Het |
| Car15 |
A |
G |
16: 17,653,393 (GRCm39) |
F258S |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,737,071 (GRCm39) |
I241T |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,410,098 (GRCm39) |
D1758G |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,353,082 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
A |
6: 97,120,988 (GRCm39) |
N75I |
possibly damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,481,919 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
T |
C |
7: 97,664,161 (GRCm39) |
|
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,533 (GRCm39) |
E304K |
probably benign |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,618,696 (GRCm39) |
V234A |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,141,387 (GRCm39) |
I334N |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,638,175 (GRCm39) |
A967D |
probably damaging |
Het |
| Mtrf1l |
A |
T |
10: 5,764,090 (GRCm39) |
M291K |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,778,470 (GRCm39) |
|
noncoding transcript |
Het |
| Myl3 |
A |
T |
9: 110,597,045 (GRCm39) |
D135V |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,446,805 (GRCm39) |
L537M |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,232,403 (GRCm39) |
D324G |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,640,229 (GRCm39) |
|
probably benign |
Het |
| Prkab1 |
A |
T |
5: 116,162,169 (GRCm39) |
F47Y |
probably damaging |
Het |
| Prkag2 |
C |
T |
5: 25,226,963 (GRCm39) |
S98N |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,057,344 (GRCm39) |
V15D |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,051 (GRCm39) |
C67* |
probably null |
Het |
| Slc25a15 |
T |
C |
8: 22,880,052 (GRCm39) |
D31G |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,532,752 (GRCm39) |
|
probably null |
Het |
| Snx15 |
A |
T |
19: 6,169,915 (GRCm39) |
M331K |
probably benign |
Het |
| Tsks |
T |
C |
7: 44,601,982 (GRCm39) |
Y224H |
probably damaging |
Het |
| Ufd1 |
T |
C |
16: 18,639,864 (GRCm39) |
S123P |
probably damaging |
Het |
|
| Other mutations in Xpnpep3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01093:Xpnpep3
|
APN |
15 |
81,320,969 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
2013-10-07 |
Incidental Mutation