Incidental Mutation 'IGL00572:Xpnpep1'
| ID |
14882 |
| 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 # |
IGL00572
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
52919710-53027093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52998579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 223
(E223G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182097]
[ENSMUST00000182500]
[ENSMUST00000183108]
[ENSMUST00000183274]
|
| AlphaFold |
Q6P1B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069988
AA Change: E180G
PolyPhen 2
Score 0.010 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000070946
Gene: ENSMUSG00000025027
AA Change: E180G
| 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: ENSMUST00000182097
|
| SMART Domains |
Protein: ENSMUSP00000138473
Gene: ENSMUSG00000025027
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Creatinase_N
|
9 |
119 |
5.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182877
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183108
AA Change: E223G
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: E223G
| 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 benign
Transcript: ENSMUST00000183274
AA Change: E223G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: E223G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Creatinase_N
|
53 |
198 |
1.2e-17 |
PFAM |
|
Pfam:Peptidase_M24
|
371 |
587 |
1.9e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183188
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
G |
17: 56,127,648 (GRCm39) |
I563V |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,532,134 (GRCm39) |
L1033P |
probably damaging |
Het |
| Aqr |
A |
C |
2: 113,956,423 (GRCm39) |
I840M |
possibly damaging |
Het |
| Bmper |
G |
A |
9: 23,317,823 (GRCm39) |
V481M |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,463,595 (GRCm39) |
E683G |
probably damaging |
Het |
| Cpn1 |
A |
G |
19: 43,952,268 (GRCm39) |
V338A |
probably damaging |
Het |
| Cs |
A |
G |
10: 128,196,833 (GRCm39) |
|
probably benign |
Het |
| Gm4540 |
C |
T |
3: 105,942,123 (GRCm39) |
|
probably benign |
Het |
| Hdc |
A |
G |
2: 126,443,792 (GRCm39) |
F296L |
probably benign |
Het |
| Helt |
T |
C |
8: 46,746,559 (GRCm39) |
E32G |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,312,347 (GRCm39) |
A1529V |
probably benign |
Het |
| Klk1b4 |
A |
T |
7: 43,860,198 (GRCm39) |
H104L |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,236 (GRCm39) |
F1911L |
probably benign |
Het |
| Ncf2 |
C |
A |
1: 152,683,925 (GRCm39) |
T48N |
possibly damaging |
Het |
| Phkg1 |
G |
A |
5: 129,893,914 (GRCm39) |
Q274* |
probably null |
Het |
| Slc1a2 |
A |
G |
2: 102,607,921 (GRCm39) |
D520G |
possibly damaging |
Het |
| Slc25a10 |
G |
T |
11: 120,387,933 (GRCm39) |
|
probably null |
Het |
| Slc8a1 |
A |
T |
17: 81,696,155 (GRCm39) |
S960T |
probably damaging |
Het |
| Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
| St7 |
A |
G |
6: 17,855,005 (GRCm39) |
E245G |
probably damaging |
Het |
| Sypl1 |
T |
A |
12: 33,004,293 (GRCm39) |
S2T |
probably damaging |
Het |
| Tbx20 |
T |
C |
9: 24,636,984 (GRCm39) |
T368A |
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,100,040 (GRCm39) |
T168A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,934 (GRCm39) |
D24653G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,777,323 (GRCm39) |
S1360P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,280,203 (GRCm39) |
F282L |
probably benign |
Het |
| Usp36 |
A |
T |
11: 118,155,646 (GRCm39) |
N875K |
possibly damaging |
Het |
| Usp9x |
C |
A |
X: 12,991,815 (GRCm39) |
H869N |
probably benign |
Het |
| Zfp729a |
G |
A |
13: 67,767,440 (GRCm39) |
P930S |
probably benign |
Het |
| Zscan10 |
G |
A |
17: 23,828,435 (GRCm39) |
V216M |
probably damaging |
Het |
|
| Other mutations in Xpnpep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01665:Xpnpep1
|
APN |
19 |
52,985,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01833:Xpnpep1
|
APN |
19 |
52,988,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-12-06 |
Incidental Mutation