Incidental Mutation 'R3931:Dpep1'
| ID |
308469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpep1
|
| Ensembl Gene |
ENSMUSG00000019278 |
| Gene Name |
dipeptidase 1 |
| Synonyms |
MBD |
| MMRRC Submission |
040918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R3931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123913069-123928551 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123925518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 57
(D57G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019422]
[ENSMUST00000127664]
[ENSMUST00000212409]
[ENSMUST00000212773]
|
| AlphaFold |
P31428 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019422
AA Change: D57G
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000019422
Gene: ENSMUSG00000019278
AA Change: D57G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M19
|
25 |
352 |
4.1e-122 |
PFAM |
|
low complexity region
|
398 |
410 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212409
AA Change: D57G
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212773
AA Change: D57G
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| 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 kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for disruption of this gene ar phenotypically normal although defects have been noted in the conversion of leukotriene D4 to leukotrience E4. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
C |
6: 92,811,420 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,971,348 (GRCm39) |
L159P |
probably damaging |
Het |
| Ccnd2 |
A |
G |
6: 127,107,422 (GRCm39) |
I249T |
probably damaging |
Het |
| Cerk |
G |
T |
15: 86,039,311 (GRCm39) |
C193* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,387,216 (GRCm39) |
E454G |
probably benign |
Het |
| Clnk |
T |
C |
5: 38,925,412 (GRCm39) |
T130A |
probably benign |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,095,499 (GRCm39) |
V942E |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnai1 |
G |
A |
4: 41,604,229 (GRCm39) |
C212Y |
probably damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Grm1 |
C |
T |
10: 10,595,622 (GRCm39) |
A669T |
probably benign |
Het |
| Hsd3b3 |
C |
T |
3: 98,649,492 (GRCm39) |
G277D |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lipo4 |
C |
T |
19: 33,480,619 (GRCm39) |
V250I |
probably benign |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,819,691 (GRCm39) |
F188L |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,003,461 (GRCm39) |
K185E |
probably benign |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,206,321 (GRCm39) |
I324T |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,311,655 (GRCm39) |
V1811E |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,516 (GRCm39) |
D871G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,051,821 (GRCm39) |
E1161G |
unknown |
Het |
| Zp2 |
T |
C |
7: 119,731,580 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dpep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00811:Dpep1
|
APN |
8 |
123,926,354 (GRCm39) |
splice site |
probably benign |
|
|
IGL02354:Dpep1
|
APN |
8 |
123,926,957 (GRCm39) |
missense |
probably benign |
|
|
IGL02361:Dpep1
|
APN |
8 |
123,926,957 (GRCm39) |
missense |
probably benign |
|
|
IGL02527:Dpep1
|
APN |
8 |
123,925,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02723:Dpep1
|
APN |
8 |
123,920,888 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0190:Dpep1
|
UTSW |
8 |
123,927,447 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1348:Dpep1
|
UTSW |
8 |
123,925,899 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1719:Dpep1
|
UTSW |
8 |
123,927,486 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2060:Dpep1
|
UTSW |
8 |
123,927,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2081:Dpep1
|
UTSW |
8 |
123,926,117 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2279:Dpep1
|
UTSW |
8 |
123,920,883 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4027:Dpep1
|
UTSW |
8 |
123,920,892 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4836:Dpep1
|
UTSW |
8 |
123,927,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Dpep1
|
UTSW |
8 |
123,926,117 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5149:Dpep1
|
UTSW |
8 |
123,927,177 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5268:Dpep1
|
UTSW |
8 |
123,920,828 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5774:Dpep1
|
UTSW |
8 |
123,926,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Dpep1
|
UTSW |
8 |
123,927,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6335:Dpep1
|
UTSW |
8 |
123,927,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7705:Dpep1
|
UTSW |
8 |
123,927,460 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7993:Dpep1
|
UTSW |
8 |
123,927,460 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8130:Dpep1
|
UTSW |
8 |
123,926,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Dpep1
|
UTSW |
8 |
123,926,764 (GRCm39) |
missense |
probably benign |
0.02 |
|
T0975:Dpep1
|
UTSW |
8 |
123,927,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0005:Dpep1
|
UTSW |
8 |
123,927,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTGAATGTTAGCCTTGAG -3'
(R):5'- AAGGGGTCTGTTCTCTTGCC -3'
Sequencing Primer
(F):5'- CCTTGAGCTGTGGGAGTCTGAAG -3'
(R):5'- CTGGAATCCCTGGGATCTCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation