Incidental Mutation 'IGL02897:Dpp7'
| ID |
363427 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpp7
|
| Ensembl Gene |
ENSMUSG00000026958 |
| Gene Name |
dipeptidylpeptidase 7 |
| Synonyms |
QPP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL02897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25242302-25246365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25243684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 339
(Y339C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028332]
[ENSMUST00000042390]
|
| AlphaFold |
Q9ET22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028332
AA Change: Y339C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028332
Gene: ENSMUSG00000026958
AA Change: Y339C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S28
|
48 |
475 |
2.3e-90 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042390
|
| SMART Domains |
Protein: ENSMUSP00000036996
Gene: ENSMUSG00000036646
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
215 |
654 |
9.5e-167 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150305
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,467,308 (GRCm39) |
E108D |
probably benign |
Het |
| Abca7 |
T |
C |
10: 79,837,426 (GRCm39) |
F437L |
probably damaging |
Het |
| Abi2 |
T |
C |
1: 60,487,353 (GRCm39) |
V134A |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 35,990,470 (GRCm39) |
I75T |
probably damaging |
Het |
| Aldh1a3 |
A |
G |
7: 66,077,075 (GRCm39) |
V29A |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,937,947 (GRCm39) |
K2715E |
probably damaging |
Het |
| Cd163 |
A |
T |
6: 124,302,486 (GRCm39) |
S1017C |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,395,067 (GRCm39) |
I76V |
probably benign |
Het |
| Cers6 |
T |
A |
2: 68,764,877 (GRCm39) |
C63* |
probably null |
Het |
| Chd9 |
T |
C |
8: 91,660,496 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,573,179 (GRCm39) |
N198D |
unknown |
Het |
| Cse1l |
T |
C |
2: 166,761,628 (GRCm39) |
C61R |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,323,123 (GRCm39) |
T2815A |
possibly damaging |
Het |
| Cyp19a1 |
G |
T |
9: 54,074,195 (GRCm39) |
T453K |
possibly damaging |
Het |
| Dlg1 |
G |
T |
16: 31,590,674 (GRCm39) |
|
probably null |
Het |
| Dtl |
T |
C |
1: 191,273,656 (GRCm39) |
|
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,219,466 (GRCm39) |
E469G |
probably damaging |
Het |
| Ing3 |
T |
A |
6: 21,969,325 (GRCm39) |
V202E |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,450,619 (GRCm39) |
L578P |
probably damaging |
Het |
| Irak4 |
A |
G |
15: 94,451,872 (GRCm39) |
N155S |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,045 (GRCm39) |
S413T |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,807,692 (GRCm39) |
Y490F |
probably damaging |
Het |
| Med17 |
T |
G |
9: 15,178,830 (GRCm39) |
D447A |
probably damaging |
Het |
| Med26 |
T |
C |
8: 73,250,365 (GRCm39) |
T245A |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,781,938 (GRCm39) |
S490R |
possibly damaging |
Het |
| Nme5 |
A |
G |
18: 34,702,956 (GRCm39) |
|
probably benign |
Het |
| Or51aa5 |
T |
C |
7: 103,167,337 (GRCm39) |
R85G |
probably benign |
Het |
| Rnf10 |
G |
T |
5: 115,386,700 (GRCm39) |
Q530K |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,338,798 (GRCm39) |
Y281* |
probably null |
Het |
| Sclt1 |
T |
C |
3: 41,629,822 (GRCm39) |
I330V |
probably benign |
Het |
| Smim14 |
A |
T |
5: 65,607,739 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,196,585 (GRCm39) |
H1536Q |
probably damaging |
Het |
| Tspan18 |
A |
G |
2: 93,050,518 (GRCm39) |
L35P |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,819 (GRCm39) |
V4568M |
probably damaging |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,744 (GRCm39) |
V296A |
possibly damaging |
Het |
|
| Other mutations in Dpp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Dpp7
|
APN |
2 |
25,244,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02992:Dpp7
|
APN |
2 |
25,244,589 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03069:Dpp7
|
APN |
2 |
25,245,735 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
1mM(1):Dpp7
|
UTSW |
2 |
25,246,152 (GRCm39) |
missense |
probably benign |
0.05 |
|
PIT4519001:Dpp7
|
UTSW |
2 |
25,242,460 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0051:Dpp7
|
UTSW |
2 |
25,246,107 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0051:Dpp7
|
UTSW |
2 |
25,246,107 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0900:Dpp7
|
UTSW |
2 |
25,246,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1889:Dpp7
|
UTSW |
2 |
25,243,691 (GRCm39) |
splice site |
probably null |
|
|
R1895:Dpp7
|
UTSW |
2 |
25,243,691 (GRCm39) |
splice site |
probably null |
|
|
R2055:Dpp7
|
UTSW |
2 |
25,244,490 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4697:Dpp7
|
UTSW |
2 |
25,244,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4832:Dpp7
|
UTSW |
2 |
25,242,398 (GRCm39) |
unclassified |
probably benign |
|
|
R4887:Dpp7
|
UTSW |
2 |
25,242,770 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5114:Dpp7
|
UTSW |
2 |
25,242,749 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6976:Dpp7
|
UTSW |
2 |
25,244,836 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7577:Dpp7
|
UTSW |
2 |
25,245,603 (GRCm39) |
missense |
probably benign |
|
|
R8459:Dpp7
|
UTSW |
2 |
25,242,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Dpp7
|
UTSW |
2 |
25,242,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8672:Dpp7
|
UTSW |
2 |
25,246,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8690:Dpp7
|
UTSW |
2 |
25,245,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0058:Dpp7
|
UTSW |
2 |
25,244,764 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-12-18 |
Incidental Mutation