Incidental Mutation 'IGL02011:Xpnpep1'
| ID |
183377 |
| 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 # |
IGL02011
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
52919710-53027093 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (9 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 52990896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182500]
[ENSMUST00000183108]
[ENSMUST00000183274]
|
| AlphaFold |
Q6P1B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069988
|
| SMART Domains |
Protein: ENSMUSP00000070946
Gene: ENSMUSG00000025027
| 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: ENSMUST00000182877
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183108
|
| SMART Domains |
Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
T |
A |
14: 49,318,592 (GRCm39) |
|
probably benign |
Het |
| Arg1 |
T |
C |
10: 24,792,275 (GRCm39) |
T215A |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 43,670,767 (GRCm39) |
K50N |
probably damaging |
Het |
| Ctdsp1 |
C |
T |
1: 74,433,175 (GRCm39) |
|
probably benign |
Het |
| Cwc22 |
A |
T |
2: 77,751,366 (GRCm39) |
D363E |
possibly damaging |
Het |
| Drd2 |
G |
T |
9: 49,318,258 (GRCm39) |
C400F |
probably damaging |
Het |
| Eef1akmt1 |
A |
T |
14: 57,795,555 (GRCm39) |
Y65N |
probably damaging |
Het |
| Gbp10 |
C |
A |
5: 105,368,967 (GRCm39) |
G291W |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,784,280 (GRCm39) |
V536E |
probably damaging |
Het |
| Or4d1 |
C |
A |
11: 87,805,708 (GRCm39) |
W8L |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,056 (GRCm39) |
R265L |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,621 (GRCm39) |
Y127N |
probably damaging |
Het |
| Pcdh12 |
C |
T |
18: 38,414,473 (GRCm39) |
G884D |
probably damaging |
Het |
| Pih1d1 |
G |
T |
7: 44,806,156 (GRCm39) |
A31S |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,454 (GRCm39) |
D317G |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,717,565 (GRCm39) |
F231S |
probably damaging |
Het |
| Raet1d |
T |
A |
10: 22,247,473 (GRCm39) |
I183K |
probably damaging |
Het |
| Scaper |
A |
G |
9: 55,487,606 (GRCm39) |
F752S |
probably damaging |
Het |
| Shisa9 |
C |
T |
16: 12,062,502 (GRCm39) |
T241I |
possibly damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Unkl |
T |
A |
17: 25,437,565 (GRCm39) |
V365E |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,421,554 (GRCm39) |
S3077F |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,283,399 (GRCm39) |
I566V |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,421,717 (GRCm39) |
T414S |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,087,035 (GRCm39) |
Q288R |
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 |
|
IGL01833:Xpnpep1
|
APN |
19 |
52,988,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation