Incidental Mutation 'R0069:Xpnpep3'
| ID |
33124 |
| 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 |
225 |
|
Status
|
Validated
(trace)
|
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.4%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,538,525 (GRCm39) |
C632S |
probably damaging |
Het |
| Antxr2 |
T |
A |
5: 98,096,109 (GRCm39) |
M392L |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,915,533 (GRCm39) |
V678A |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,957,274 (GRCm39) |
|
probably null |
Het |
| Clec2g |
T |
A |
6: 128,925,716 (GRCm39) |
S42T |
probably benign |
Het |
| Creb1 |
A |
G |
1: 64,615,367 (GRCm39) |
I240V |
possibly damaging |
Het |
| D2hgdh |
G |
T |
1: 93,763,009 (GRCm39) |
V265L |
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 |
| Fam168a |
C |
T |
7: 100,484,618 (GRCm39) |
A252V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,202,256 (GRCm39) |
Y1299C |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,060,099 (GRCm39) |
V98G |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,713,509 (GRCm39) |
|
probably null |
Het |
| Ifi206 |
A |
T |
1: 173,314,413 (GRCm39) |
V9D |
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 |
| Map1b |
A |
G |
13: 99,566,356 (GRCm39) |
S2122P |
unknown |
Het |
| Mei4 |
C |
T |
9: 81,907,635 (GRCm39) |
Q223* |
probably null |
Het |
| Mpzl3 |
T |
C |
9: 44,979,550 (GRCm39) |
V167A |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,528,779 (GRCm39) |
I681T |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,167,624 (GRCm39) |
T1070A |
probably benign |
Het |
| Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,986,688 (GRCm39) |
|
probably benign |
Het |
| Or10ak12 |
A |
T |
4: 118,666,887 (GRCm39) |
V58D |
probably damaging |
Het |
| Or8g33 |
A |
G |
9: 39,338,188 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ostm1 |
A |
C |
10: 42,568,952 (GRCm39) |
D37A |
probably benign |
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 |
| Prkdc |
G |
A |
16: 15,544,368 (GRCm39) |
S1786N |
probably benign |
Het |
| Prox1 |
A |
G |
1: 189,893,116 (GRCm39) |
V443A |
possibly damaging |
Het |
| Prpf6 |
T |
A |
2: 181,257,756 (GRCm39) |
|
probably null |
Het |
| Ptger1 |
A |
T |
8: 84,394,948 (GRCm39) |
T142S |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,587,564 (GRCm39) |
V734L |
possibly damaging |
Het |
| Rnpepl1 |
T |
A |
1: 92,846,620 (GRCm39) |
N507K |
possibly damaging |
Het |
| Slc38a10 |
A |
T |
11: 119,997,328 (GRCm39) |
V722E |
probably damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,926,368 (GRCm39) |
|
noncoding transcript |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,727,756 (GRCm39) |
H175Q |
probably damaging |
Het |
| Ube2e3 |
C |
A |
2: 78,750,293 (GRCm39) |
|
probably benign |
Het |
| Vmn1r208 |
A |
T |
13: 22,956,595 (GRCm39) |
W301R |
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTCTGTATTCCAGAGTGTCACG -3'
(R):5'- CGGCCTCTGAACATGAAGAGCTTG -3'
Sequencing Primer
(F):5'- gctgtttgtttgtgtttcattttc -3'
(R):5'- GCTTGAGTTTTATGATCTGACAGAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation