Incidental Mutation 'R4242:Xpnpep3'
| ID |
320261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpnpep3
|
| Ensembl Gene |
ENSMUSG00000022401 |
| Gene Name |
X-prolyl aminopeptidase 3, mitochondrial |
| Synonyms |
E430012M05Rik |
| MMRRC Submission |
041059-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4242 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81284339-81341683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81311857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 188
(F188I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041609]
[ENSMUST00000163754]
[ENSMUST00000165258]
[ENSMUST00000167799]
|
| AlphaFold |
B7ZMP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041609
AA Change: F188I
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401
AA Change: F188I
| 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 benign
Transcript: ENSMUST00000163754
AA Change: F188I
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401
AA Change: F188I
| 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 |
|
| Meta Mutation Damage Score |
0.1554 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
C |
T |
5: 105,109,079 (GRCm39) |
R406H |
probably benign |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col6a2 |
C |
T |
10: 76,443,940 (GRCm39) |
|
probably null |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,065,939 (GRCm39) |
T355A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,045,297 (GRCm39) |
C148Y |
possibly damaging |
Het |
| Faim2 |
T |
A |
15: 99,398,082 (GRCm39) |
I289F |
probably damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,755 (GRCm39) |
S113P |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,064,351 (GRCm39) |
S1879P |
probably benign |
Het |
| Igll1 |
C |
A |
16: 16,681,564 (GRCm39) |
G64C |
probably benign |
Het |
| Klhdc7a |
G |
A |
4: 139,694,032 (GRCm39) |
P305L |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,707,820 (GRCm39) |
|
probably benign |
Het |
| Lrmda |
C |
A |
14: 22,077,303 (GRCm39) |
Y13* |
probably null |
Het |
| Mad2l1bp |
T |
C |
17: 46,463,913 (GRCm39) |
E37G |
possibly damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,911,771 (GRCm39) |
S265P |
probably benign |
Het |
| Mpl |
T |
A |
4: 118,313,968 (GRCm39) |
D99V |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,362,719 (GRCm39) |
G1302D |
possibly damaging |
Het |
| Odaph |
A |
G |
5: 92,142,749 (GRCm39) |
I104V |
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,666 (GRCm39) |
V180A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,480 (GRCm39) |
I8F |
possibly damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,149,374 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,226,528 (GRCm39) |
H764Y |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,727 (GRCm39) |
F375S |
probably damaging |
Het |
| Spanxn4 |
T |
C |
12: 62,734,983 (GRCm39) |
|
noncoding transcript |
Het |
| Taf1 |
T |
C |
X: 100,588,109 (GRCm39) |
I457T |
probably benign |
Het |
| Tle3 |
A |
T |
9: 61,314,705 (GRCm39) |
M233L |
probably benign |
Het |
| Trpv3 |
T |
C |
11: 73,168,649 (GRCm39) |
I72T |
probably benign |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Zfp69 |
G |
A |
4: 120,791,672 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCATTCTGGTCCTTCAGAGC -3'
(R):5'- TATGTGGATTCCCTCAGCCAC -3'
Sequencing Primer
(F):5'- CTTCTCTGGGAAGCAGTTACC -3'
(R):5'- CAGCCTGATCGTCAAGGTTTACAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation