Incidental Mutation 'R0318:Dnpep'
| ID |
25472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnpep
|
| Ensembl Gene |
ENSMUSG00000026209 |
| Gene Name |
aspartyl aminopeptidase |
| Synonyms |
|
| MMRRC Submission |
038528-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75285209-75294298 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75293270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 33
(V33A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066668]
[ENSMUST00000113605]
[ENSMUST00000185419]
[ENSMUST00000185797]
[ENSMUST00000187000]
[ENSMUST00000187075]
[ENSMUST00000189282]
[ENSMUST00000188652]
[ENSMUST00000189551]
[ENSMUST00000191254]
[ENSMUST00000187836]
|
| AlphaFold |
Q9Z2W0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066668
AA Change: V33A
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209
AA Change: V33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
460 |
2.9e-199 |
PFAM |
|
Pfam:Peptidase_M42
|
328 |
455 |
1.2e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113605
AA Change: V33A
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209
AA Change: V33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
460 |
9.4e-194 |
PFAM |
|
Pfam:Peptidase_M42
|
328 |
455 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185419
AA Change: V33A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209
AA Change: V33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
459 |
7.3e-192 |
PFAM |
|
Pfam:Peptidase_M42
|
328 |
455 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185797
AA Change: V35A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209
AA Change: V35A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
24 |
462 |
2e-190 |
PFAM |
|
Pfam:Peptidase_M42
|
330 |
457 |
1.9e-4 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186278
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187000
AA Change: V33A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141014
Gene: ENSMUSG00000026209
AA Change: V33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
271 |
2.9e-102 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187075
AA Change: V33A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140877
Gene: ENSMUSG00000026209
AA Change: V33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
222 |
1.1e-80 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189282
AA Change: V33A
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141187
Gene: ENSMUSG00000026209
AA Change: V33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
57 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187791
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188652
AA Change: V33A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139532
Gene: ENSMUSG00000026209
AA Change: V33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
85 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189551
AA Change: V33A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140563
Gene: ENSMUSG00000026209
AA Change: V33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
198 |
6.4e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191254
AA Change: V35A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140997
Gene: ENSMUSG00000026209
AA Change: V35A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
24 |
64 |
8.8e-11 |
PFAM |
|
Pfam:Peptidase_M18
|
60 |
92 |
3.6e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187836
AA Change: V33A
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209
AA Change: V33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
460 |
9.4e-194 |
PFAM |
|
Pfam:Peptidase_M42
|
328 |
455 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190005
|
| Meta Mutation Damage Score |
0.6797 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.5%
|
| 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 an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,370 (GRCm39) |
L79Q |
probably damaging |
Het |
| Add1 |
T |
C |
5: 34,782,684 (GRCm39) |
V130A |
probably damaging |
Het |
| Ankrd23 |
G |
T |
1: 36,573,153 (GRCm39) |
T73K |
probably benign |
Het |
| Blk |
A |
G |
14: 63,611,646 (GRCm39) |
Y430H |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,531,709 (GRCm39) |
V272M |
probably damaging |
Het |
| Cerk |
C |
T |
15: 86,035,766 (GRCm39) |
A254T |
possibly damaging |
Het |
| Ces2a |
G |
A |
8: 105,467,456 (GRCm39) |
A494T |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,234,482 (GRCm39) |
Y258C |
probably damaging |
Het |
| Chaf1a |
C |
T |
17: 56,369,227 (GRCm39) |
T486I |
possibly damaging |
Het |
| Colec12 |
A |
G |
18: 9,848,446 (GRCm39) |
N208S |
possibly damaging |
Het |
| Coro7 |
T |
A |
16: 4,493,671 (GRCm39) |
H63L |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,216,173 (GRCm39) |
W833R |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,522,549 (GRCm39) |
W2707R |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,478,616 (GRCm39) |
I190K |
probably damaging |
Het |
| Dnmt3l |
G |
A |
10: 77,890,889 (GRCm39) |
V264M |
probably damaging |
Het |
| Fam163a |
A |
G |
1: 155,955,715 (GRCm39) |
C26R |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,875,478 (GRCm39) |
S620P |
probably benign |
Het |
| Fcna |
A |
G |
2: 25,515,071 (GRCm39) |
S263P |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,419,685 (GRCm39) |
S165R |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,410 (GRCm39) |
T244A |
probably benign |
Het |
| Gpr152 |
T |
C |
19: 4,193,541 (GRCm39) |
S361P |
possibly damaging |
Het |
| Grm5 |
A |
T |
7: 87,252,175 (GRCm39) |
I142L |
probably damaging |
Het |
| Gucy2g |
A |
G |
19: 55,226,230 (GRCm39) |
S229P |
probably benign |
Het |
| Htr7 |
C |
T |
19: 35,946,886 (GRCm39) |
G376D |
probably damaging |
Het |
| Irgc |
T |
C |
7: 24,131,896 (GRCm39) |
D307G |
probably benign |
Het |
| Irs1 |
A |
T |
1: 82,266,381 (GRCm39) |
S612T |
probably benign |
Het |
| Maml2 |
C |
T |
9: 13,531,890 (GRCm39) |
T368I |
probably damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,072 (GRCm39) |
V64A |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Nptx1 |
C |
T |
11: 119,433,367 (GRCm39) |
E411K |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5ak25 |
C |
A |
2: 85,268,581 (GRCm39) |
R307M |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,590 (GRCm39) |
K22N |
possibly damaging |
Het |
| Psmd9 |
C |
A |
5: 123,372,712 (GRCm39) |
A65E |
possibly damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,795,907 (GRCm39) |
T679A |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,436 (GRCm39) |
P1281S |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,064,316 (GRCm39) |
M222V |
probably benign |
Het |
| Smg9 |
T |
C |
7: 24,120,313 (GRCm39) |
F429S |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,993,250 (GRCm39) |
Y258F |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,275,867 (GRCm39) |
Q220L |
probably damaging |
Het |
| Tas2r122 |
T |
C |
6: 132,688,795 (GRCm39) |
T33A |
possibly damaging |
Het |
| Tbc1d10b |
A |
G |
7: 126,798,206 (GRCm39) |
L645P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,665,619 (GRCm39) |
F47S |
probably benign |
Het |
| Timd4 |
T |
A |
11: 46,727,898 (GRCm39) |
H272Q |
probably benign |
Het |
| Ttll5 |
T |
G |
12: 85,923,368 (GRCm39) |
|
probably null |
Het |
| Veph1 |
G |
T |
3: 65,964,680 (GRCm39) |
S783Y |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,078 (GRCm39) |
L89S |
possibly damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,219 (GRCm39) |
V165A |
possibly damaging |
Het |
| Zfp286 |
T |
C |
11: 62,675,788 (GRCm39) |
D58G |
probably damaging |
Het |
| Zfyve26 |
C |
T |
12: 79,323,055 (GRCm39) |
R897H |
probably damaging |
Het |
|
| Other mutations in Dnpep |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02419:Dnpep
|
APN |
1 |
75,292,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0026:Dnpep
|
UTSW |
1 |
75,285,329 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0126:Dnpep
|
UTSW |
1 |
75,289,182 (GRCm39) |
nonsense |
probably null |
|
|
R0669:Dnpep
|
UTSW |
1 |
75,288,422 (GRCm39) |
unclassified |
probably benign |
|
|
R1076:Dnpep
|
UTSW |
1 |
75,292,582 (GRCm39) |
unclassified |
probably benign |
|
|
R1478:Dnpep
|
UTSW |
1 |
75,292,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Dnpep
|
UTSW |
1 |
75,286,058 (GRCm39) |
nonsense |
probably null |
|
|
R3409:Dnpep
|
UTSW |
1 |
75,293,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3411:Dnpep
|
UTSW |
1 |
75,293,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4590:Dnpep
|
UTSW |
1 |
75,293,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Dnpep
|
UTSW |
1 |
75,285,874 (GRCm39) |
intron |
probably benign |
|
|
R4948:Dnpep
|
UTSW |
1 |
75,293,404 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5873:Dnpep
|
UTSW |
1 |
75,291,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5891:Dnpep
|
UTSW |
1 |
75,288,456 (GRCm39) |
missense |
probably benign |
|
|
R5907:Dnpep
|
UTSW |
1 |
75,288,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6143:Dnpep
|
UTSW |
1 |
75,291,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6432:Dnpep
|
UTSW |
1 |
75,292,022 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6433:Dnpep
|
UTSW |
1 |
75,292,022 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7188:Dnpep
|
UTSW |
1 |
75,292,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Dnpep
|
UTSW |
1 |
75,290,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7620:Dnpep
|
UTSW |
1 |
75,290,092 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7682:Dnpep
|
UTSW |
1 |
75,293,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Dnpep
|
UTSW |
1 |
75,293,890 (GRCm39) |
intron |
probably benign |
|
|
R8214:Dnpep
|
UTSW |
1 |
75,292,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Dnpep
|
UTSW |
1 |
75,292,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Dnpep
|
UTSW |
1 |
75,291,805 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9081:Dnpep
|
UTSW |
1 |
75,291,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTTGCTTTATGATCCGGGACAC -3'
(R):5'- AGCTAGGAATCCACATCTGTCGCC -3'
Sequencing Primer
(F):5'- CTTTGCAATAGTGTCTGCCC -3'
(R):5'- ACATCTGTCGCCAGTGAAGTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation