Incidental Mutation 'IGL01833:Xpnpep1'
ID |
154846 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Xpnpep1
|
Ensembl Gene |
ENSMUSG00000025027 |
Gene Name |
X-prolyl aminopeptidase (aminopeptidase P) 1, soluble |
Synonyms |
D230045I08Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01833
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
52919710-53027093 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 52988824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 463
(Y463H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182500]
[ENSMUST00000183108]
[ENSMUST00000183274]
|
AlphaFold |
Q6P1B1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069988
AA Change: Y420H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000070946 Gene: ENSMUSG00000025027 AA Change: Y420H
Domain | Start | End | E-Value | Type |
Pfam:Creatinase_N
|
10 |
154 |
5.2e-15 |
PFAM |
Pfam:Creatinase_N_2
|
157 |
326 |
1.4e-47 |
PFAM |
Pfam:Peptidase_M24
|
328 |
544 |
7.2e-52 |
PFAM |
Pfam:Peptidase_M24_C
|
555 |
619 |
7.3e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182500
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182728
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182877
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183108
AA Change: Y463H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138250 Gene: ENSMUSG00000025027 AA Change: Y463H
Domain | Start | End | E-Value | Type |
Pfam:Creatinase_N
|
53 |
198 |
1.2e-17 |
PFAM |
Pfam:Peptidase_M24
|
371 |
587 |
5.5e-49 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183274
AA Change: Y463H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138233 Gene: ENSMUSG00000025027 AA Change: Y463H
Domain | Start | End | E-Value | Type |
Pfam:Creatinase_N
|
53 |
198 |
1.2e-17 |
PFAM |
Pfam:Peptidase_M24
|
371 |
587 |
1.9e-48 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009] PHENOTYPE: Mice homozygous for a gene trap allele exhibit pre and postnatal lethality, reduced male survival, growth retardation with decreased body weight, size and length, microcephaly and peptiduria. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,188,062 (GRCm39) |
N190S |
probably benign |
Het |
Adamts18 |
T |
A |
8: 114,469,728 (GRCm39) |
Y658F |
probably benign |
Het |
Camsap3 |
T |
A |
8: 3,658,508 (GRCm39) |
L1151Q |
probably damaging |
Het |
Casp14 |
T |
A |
10: 78,551,237 (GRCm39) |
Y16F |
probably damaging |
Het |
Clip2 |
A |
T |
5: 134,526,938 (GRCm39) |
|
probably benign |
Het |
Clip4 |
G |
A |
17: 72,134,785 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
G |
A |
9: 86,941,505 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
T |
5: 110,827,874 (GRCm39) |
N2329K |
unknown |
Het |
Fam163a |
T |
A |
1: 155,955,742 (GRCm39) |
I17F |
probably damaging |
Het |
Galnt1 |
T |
A |
18: 24,400,617 (GRCm39) |
I241N |
probably damaging |
Het |
Galnt14 |
T |
G |
17: 73,811,899 (GRCm39) |
I441L |
probably benign |
Het |
Gpr45 |
T |
C |
1: 43,071,402 (GRCm39) |
L15P |
probably benign |
Het |
Hivep1 |
A |
T |
13: 42,308,464 (GRCm39) |
K235* |
probably null |
Het |
Kcnip2 |
T |
C |
19: 45,782,746 (GRCm39) |
|
probably null |
Het |
Kpna3 |
T |
C |
14: 61,607,894 (GRCm39) |
N437S |
possibly damaging |
Het |
Lmtk2 |
A |
T |
5: 144,112,753 (GRCm39) |
R1158* |
probably null |
Het |
Lpo |
A |
G |
11: 87,698,159 (GRCm39) |
V612A |
possibly damaging |
Het |
Myh15 |
T |
C |
16: 48,934,421 (GRCm39) |
C663R |
probably damaging |
Het |
Nacad |
G |
A |
11: 6,555,700 (GRCm39) |
R17C |
unknown |
Het |
Or7a35 |
A |
T |
10: 78,853,770 (GRCm39) |
M205L |
probably benign |
Het |
Pcsk2 |
A |
G |
2: 143,529,500 (GRCm39) |
Q99R |
possibly damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,787,264 (GRCm39) |
N593S |
probably benign |
Het |
Plce1 |
G |
A |
19: 38,709,425 (GRCm39) |
S1093N |
probably damaging |
Het |
Prxl2b |
G |
T |
4: 154,981,059 (GRCm39) |
|
probably benign |
Het |
Rhpn2 |
T |
A |
7: 35,075,596 (GRCm39) |
Y258N |
probably benign |
Het |
Serpinb9d |
T |
C |
13: 33,384,688 (GRCm39) |
Y222H |
probably damaging |
Het |
Shprh |
T |
C |
10: 11,066,806 (GRCm39) |
L1401P |
probably damaging |
Het |
Slc5a7 |
A |
G |
17: 54,588,861 (GRCm39) |
L262P |
probably damaging |
Het |
Stat2 |
T |
G |
10: 128,117,045 (GRCm39) |
F293V |
probably benign |
Het |
Stpg4 |
T |
A |
17: 87,702,585 (GRCm39) |
|
probably null |
Het |
Styk1 |
G |
T |
6: 131,279,329 (GRCm39) |
|
probably benign |
Het |
Sult2a2 |
T |
A |
7: 13,468,721 (GRCm39) |
D62E |
probably damaging |
Het |
Sytl2 |
G |
A |
7: 90,045,745 (GRCm39) |
V632M |
probably damaging |
Het |
Themis |
C |
T |
10: 28,658,307 (GRCm39) |
Q445* |
probably null |
Het |
Tmem225 |
A |
T |
9: 40,059,725 (GRCm39) |
E35V |
probably damaging |
Het |
Vmn1r48 |
T |
A |
6: 90,013,265 (GRCm39) |
T187S |
probably damaging |
Het |
|
Other mutations in Xpnpep1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00572:Xpnpep1
|
APN |
19 |
52,998,579 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01665:Xpnpep1
|
APN |
19 |
52,985,463 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02011:Xpnpep1
|
APN |
19 |
52,990,896 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
IGL03229:Xpnpep1
|
APN |
19 |
53,013,811 (GRCm39) |
missense |
probably benign |
|
IGL03334:Xpnpep1
|
APN |
19 |
52,998,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Xpnpep1
|
UTSW |
19 |
52,998,583 (GRCm39) |
missense |
probably benign |
0.03 |
R0613:Xpnpep1
|
UTSW |
19 |
52,994,784 (GRCm39) |
missense |
probably damaging |
0.97 |
R0648:Xpnpep1
|
UTSW |
19 |
52,986,294 (GRCm39) |
splice site |
probably benign |
|
R1543:Xpnpep1
|
UTSW |
19 |
52,980,107 (GRCm39) |
missense |
probably benign |
0.24 |
R1553:Xpnpep1
|
UTSW |
19 |
52,994,769 (GRCm39) |
missense |
probably benign |
0.00 |
R1801:Xpnpep1
|
UTSW |
19 |
52,998,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R1853:Xpnpep1
|
UTSW |
19 |
52,994,641 (GRCm39) |
missense |
probably benign |
0.01 |
R2234:Xpnpep1
|
UTSW |
19 |
53,001,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R3797:Xpnpep1
|
UTSW |
19 |
52,994,773 (GRCm39) |
missense |
probably benign |
0.28 |
R3820:Xpnpep1
|
UTSW |
19 |
52,992,250 (GRCm39) |
splice site |
probably benign |
|
R3822:Xpnpep1
|
UTSW |
19 |
52,992,250 (GRCm39) |
splice site |
probably benign |
|
R3925:Xpnpep1
|
UTSW |
19 |
52,980,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Xpnpep1
|
UTSW |
19 |
53,003,053 (GRCm39) |
missense |
probably benign |
0.09 |
R5033:Xpnpep1
|
UTSW |
19 |
52,994,606 (GRCm39) |
missense |
probably benign |
|
R5184:Xpnpep1
|
UTSW |
19 |
53,001,845 (GRCm39) |
missense |
probably benign |
0.24 |
R5468:Xpnpep1
|
UTSW |
19 |
52,983,950 (GRCm39) |
missense |
probably benign |
0.01 |
R5573:Xpnpep1
|
UTSW |
19 |
52,993,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R5876:Xpnpep1
|
UTSW |
19 |
52,985,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R5929:Xpnpep1
|
UTSW |
19 |
53,001,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R6454:Xpnpep1
|
UTSW |
19 |
52,986,310 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6519:Xpnpep1
|
UTSW |
19 |
53,000,275 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7095:Xpnpep1
|
UTSW |
19 |
53,000,196 (GRCm39) |
critical splice donor site |
probably null |
|
R7112:Xpnpep1
|
UTSW |
19 |
52,998,538 (GRCm39) |
missense |
probably benign |
|
R7412:Xpnpep1
|
UTSW |
19 |
52,994,722 (GRCm39) |
missense |
probably benign |
|
R8329:Xpnpep1
|
UTSW |
19 |
52,990,903 (GRCm39) |
critical splice donor site |
probably null |
|
R8431:Xpnpep1
|
UTSW |
19 |
52,983,937 (GRCm39) |
missense |
probably benign |
0.04 |
R9194:Xpnpep1
|
UTSW |
19 |
53,000,289 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9342:Xpnpep1
|
UTSW |
19 |
52,993,248 (GRCm39) |
missense |
probably benign |
0.02 |
R9388:Xpnpep1
|
UTSW |
19 |
52,993,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R9546:Xpnpep1
|
UTSW |
19 |
52,990,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R9746:Xpnpep1
|
UTSW |
19 |
53,001,892 (GRCm39) |
missense |
probably damaging |
1.00 |
RF017:Xpnpep1
|
UTSW |
19 |
53,020,491 (GRCm39) |
missense |
probably benign |
0.21 |
|
Posted On |
2014-02-04 |