Incidental Mutation 'IGL03334:Xpnpep1'
| ID |
416963 |
| 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 # |
IGL03334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
52919710-53027093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52998577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 224
(K224E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182097]
[ENSMUST00000182500]
[ENSMUST00000183108]
[ENSMUST00000183274]
|
| AlphaFold |
Q6P1B1 |
| 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 damaging
Transcript: ENSMUST00000183108
AA Change: K224E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: K224E
| 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 |
noncoding transcript
Transcript: ENSMUST00000183188
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183274
AA Change: K224E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: K224E
| 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
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,302 (GRCm39) |
F762L |
probably benign |
Het |
| Angpt1 |
T |
A |
15: 42,359,808 (GRCm39) |
E208V |
possibly damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,438,023 (GRCm39) |
I286F |
probably benign |
Het |
| Arhgef5 |
T |
C |
6: 43,250,934 (GRCm39) |
S562P |
possibly damaging |
Het |
| Asb6 |
T |
C |
2: 30,714,496 (GRCm39) |
T205A |
probably benign |
Het |
| B4galnt4 |
G |
A |
7: 140,647,354 (GRCm39) |
|
probably null |
Het |
| Clca4a |
A |
T |
3: 144,659,627 (GRCm39) |
M743K |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,312,217 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
T |
4: 63,232,959 (GRCm39) |
Y359F |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,394,234 (GRCm39) |
V125D |
possibly damaging |
Het |
| Ercc3 |
T |
C |
18: 32,373,890 (GRCm39) |
|
probably null |
Het |
| Fnbp1l |
A |
G |
3: 122,351,598 (GRCm39) |
V315A |
probably benign |
Het |
| Gm17174 |
T |
A |
14: 51,829,420 (GRCm39) |
R48* |
probably null |
Het |
| Golga4 |
C |
T |
9: 118,366,301 (GRCm39) |
|
probably benign |
Het |
| Grin1 |
C |
T |
2: 25,188,405 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
T |
A |
1: 173,765,401 (GRCm39) |
K58* |
probably null |
Het |
| Ighv2-9-1 |
A |
G |
12: 113,733,543 (GRCm39) |
S93P |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,757,751 (GRCm39) |
V594A |
probably benign |
Het |
| Krr1 |
T |
G |
10: 111,815,959 (GRCm39) |
S275R |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,354,571 (GRCm39) |
D792G |
probably benign |
Het |
| Myo1f |
G |
A |
17: 33,817,168 (GRCm39) |
R737H |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,418,522 (GRCm39) |
H292L |
probably damaging |
Het |
| Nell1 |
C |
A |
7: 49,712,359 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,577,242 (GRCm39) |
F412L |
probably benign |
Het |
| Nlrp3 |
T |
A |
11: 59,439,842 (GRCm39) |
I473N |
probably damaging |
Het |
| Or1j10 |
T |
C |
2: 36,267,063 (GRCm39) |
Y92H |
possibly damaging |
Het |
| Phf3 |
A |
G |
1: 30,844,810 (GRCm39) |
V1383A |
probably damaging |
Het |
| Prss48 |
T |
C |
3: 85,904,625 (GRCm39) |
E191G |
probably damaging |
Het |
| Psg25 |
T |
A |
7: 18,263,699 (GRCm39) |
L41F |
probably benign |
Het |
| Sema3b |
A |
G |
9: 107,481,276 (GRCm39) |
L78P |
probably damaging |
Het |
| Spen |
G |
T |
4: 141,197,280 (GRCm39) |
N3496K |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,420,104 (GRCm39) |
H28Q |
possibly damaging |
Het |
| Trpv3 |
T |
A |
11: 73,172,491 (GRCm39) |
|
probably benign |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,788 (GRCm39) |
L45P |
probably damaging |
Het |
| Vmn2r35 |
T |
A |
7: 7,789,493 (GRCm39) |
Y748F |
probably damaging |
Het |
| Vps18 |
C |
T |
2: 119,127,963 (GRCm39) |
R929W |
probably damaging |
Het |
| Zbed5 |
T |
A |
5: 129,931,196 (GRCm39) |
F382I |
possibly 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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation