Incidental Mutation 'R0069:Xpnpep3'
ID |
16362 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpnpep3
|
Ensembl Gene |
ENSMUSG00000022401 |
Gene Name |
X-prolyl aminopeptidase 3, mitochondrial |
Synonyms |
E430012M05Rik |
MMRRC Submission |
038360-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0069 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
81284339-81341683 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81314999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 233
(V233A)
|
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: V233A
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000038331 Gene: ENSMUSG00000022401 AA Change: V233A
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: V233A
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000132822 Gene: ENSMUSG00000022401 AA Change: V233A
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 |
0.0914 |
Coding Region Coverage |
- 1x: 86.4%
- 3x: 80.4%
- 10x: 57.4%
- 20x: 26.1%
|
Validation Efficiency |
94% (60/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
T |
6: 128,538,525 (GRCm39) |
C632S |
probably damaging |
Het |
Ccnb1ip1 |
G |
A |
14: 81,519,382 (GRCm38) |
Q322* |
probably null |
Het |
Cd101 |
A |
G |
3: 100,915,533 (GRCm39) |
V678A |
probably benign |
Het |
Creb1 |
A |
G |
1: 64,615,367 (GRCm39) |
I240V |
possibly damaging |
Het |
Dctn2 |
A |
T |
10: 127,113,354 (GRCm39) |
|
probably null |
Het |
Diablo |
A |
T |
5: 123,656,087 (GRCm39) |
S117R |
probably damaging |
Het |
Ebf2 |
A |
T |
14: 67,647,499 (GRCm39) |
R349S |
probably damaging |
Het |
Gne |
A |
C |
4: 44,060,099 (GRCm39) |
V98G |
probably damaging |
Het |
Ints3 |
A |
G |
3: 90,307,954 (GRCm39) |
|
probably benign |
Het |
Itgal |
A |
G |
7: 126,909,503 (GRCm39) |
T56A |
probably benign |
Het |
Lzts3 |
T |
A |
2: 130,478,460 (GRCm39) |
T213S |
probably benign |
Het |
Myo1d |
A |
G |
11: 80,528,779 (GRCm39) |
I681T |
probably damaging |
Het |
Pde8a |
T |
C |
7: 80,968,871 (GRCm39) |
|
probably benign |
Het |
Pole2 |
A |
T |
12: 69,256,661 (GRCm39) |
V288E |
probably damaging |
Het |
Poteg |
T |
C |
8: 27,937,849 (GRCm39) |
S2P |
probably benign |
Het |
Ppp2r5c |
A |
T |
12: 110,534,204 (GRCm39) |
M356L |
probably benign |
Het |
Rad54l2 |
C |
A |
9: 106,587,564 (GRCm39) |
V734L |
possibly damaging |
Het |
Ryr1 |
A |
C |
7: 28,809,930 (GRCm39) |
|
probably benign |
Het |
Slfn10-ps |
A |
G |
11: 82,926,368 (GRCm39) |
|
noncoding transcript |
Het |
Sult1e1 |
A |
T |
5: 87,727,756 (GRCm39) |
H175Q |
probably damaging |
Het |
Trgv7 |
A |
G |
13: 19,362,592 (GRCm39) |
R94G |
probably benign |
Het |
Ube2e3 |
C |
A |
2: 78,750,293 (GRCm39) |
|
probably benign |
Het |
Vps13d |
A |
G |
4: 144,789,133 (GRCm39) |
I746T |
probably benign |
Het |
Zfp329 |
A |
T |
7: 12,544,859 (GRCm39) |
S222T |
probably damaging |
Het |
Zswim6 |
T |
C |
13: 107,875,098 (GRCm39) |
|
noncoding transcript |
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 |
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 |
2013-01-20 |