Incidental Mutation 'IGL02419:Dnpep'
| ID |
292589 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnpep
|
| Ensembl Gene |
ENSMUSG00000026209 |
| Gene Name |
aspartyl aminopeptidase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75285209-75294298 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75292332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 162
(I162T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066668]
[ENSMUST00000113605]
[ENSMUST00000185419]
[ENSMUST00000185797]
[ENSMUST00000187000]
[ENSMUST00000187075]
[ENSMUST00000189551]
[ENSMUST00000187836]
[ENSMUST00000189282]
[ENSMUST00000188652]
[ENSMUST00000191254]
|
| AlphaFold |
Q9Z2W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066668
AA Change: I162T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209
AA Change: I162T
| 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 |
probably damaging
Transcript: ENSMUST00000113605
AA Change: I162T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209
AA Change: I162T
| 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: I162T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209
AA Change: I162T
| 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: I164T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209
AA Change: I164T
| 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: I162T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141014
Gene: ENSMUSG00000026209
AA Change: I162T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
271 |
2.9e-102 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187075
AA Change: I162T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140877
Gene: ENSMUSG00000026209
AA Change: I162T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
222 |
1.1e-80 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189551
AA Change: I162T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140563
Gene: ENSMUSG00000026209
AA Change: I162T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
198 |
6.4e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187836
AA Change: I162T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209
AA Change: I162T
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187791
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189282
|
| SMART Domains |
Protein: ENSMUSP00000141187
Gene: ENSMUSG00000026209
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
57 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188652
|
| SMART Domains |
Protein: ENSMUSP00000139532
Gene: ENSMUSG00000026209
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
85 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191254
|
| SMART Domains |
Protein: ENSMUSP00000140997
Gene: ENSMUSG00000026209
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
24 |
64 |
8.8e-11 |
PFAM |
|
Pfam:Peptidase_M18
|
60 |
92 |
3.6e-8 |
PFAM |
|
| 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 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
T |
C |
8: 88,312,727 (GRCm39) |
F171L |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,336,849 (GRCm39) |
N2291D |
probably benign |
Het |
| Adamts9 |
A |
G |
6: 92,773,978 (GRCm39) |
V1145A |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 69,130,482 (GRCm39) |
V135A |
probably benign |
Het |
| Akr1c14 |
A |
T |
13: 4,130,617 (GRCm39) |
|
probably null |
Het |
| Aptx |
G |
T |
4: 40,691,032 (GRCm39) |
A229E |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,892,872 (GRCm39) |
S1584P |
probably benign |
Het |
| Catsper3 |
A |
T |
13: 55,955,881 (GRCm39) |
T329S |
possibly damaging |
Het |
| Cntrl |
A |
G |
2: 35,024,055 (GRCm39) |
D27G |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,981,392 (GRCm39) |
I98K |
probably damaging |
Het |
| Ctdp1 |
T |
C |
18: 80,463,799 (GRCm39) |
K79R |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,418,777 (GRCm39) |
|
probably null |
Het |
| Cyp11b2 |
A |
T |
15: 74,722,904 (GRCm39) |
F498Y |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,472,950 (GRCm39) |
I166V |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,845,242 (GRCm39) |
|
probably null |
Het |
| Gata6 |
G |
A |
18: 11,054,220 (GRCm39) |
G50R |
probably damaging |
Het |
| Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
| Grifin |
T |
C |
5: 140,550,455 (GRCm39) |
T20A |
probably benign |
Het |
| Hnf4a |
A |
T |
2: 163,408,202 (GRCm39) |
I352F |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,576,946 (GRCm39) |
T552A |
possibly damaging |
Het |
| Ifi205 |
C |
T |
1: 173,845,180 (GRCm39) |
A201T |
probably damaging |
Het |
| Kcnk6 |
A |
G |
7: 28,924,627 (GRCm39) |
V259A |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,079,005 (GRCm39) |
N451S |
probably benign |
Het |
| Klhl24 |
T |
A |
16: 19,926,118 (GRCm39) |
Y215* |
probably null |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,358,273 (GRCm39) |
K429E |
possibly damaging |
Het |
| Misp |
A |
G |
10: 79,663,705 (GRCm39) |
|
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,852,352 (GRCm39) |
N1007S |
probably benign |
Het |
| Or10v1 |
A |
T |
19: 11,874,186 (GRCm39) |
Y267F |
probably benign |
Het |
| Or14a260 |
C |
A |
7: 85,984,870 (GRCm39) |
V245F |
probably damaging |
Het |
| Or51v8 |
A |
T |
7: 103,319,682 (GRCm39) |
C185* |
probably null |
Het |
| Or8k41 |
T |
A |
2: 86,313,259 (GRCm39) |
I276F |
probably damaging |
Het |
| Pex6 |
C |
A |
17: 47,035,361 (GRCm39) |
T840N |
possibly damaging |
Het |
| Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
| Rapgef3 |
G |
T |
15: 97,648,171 (GRCm39) |
N679K |
probably benign |
Het |
| Serpina3n |
T |
C |
12: 104,379,777 (GRCm39) |
V390A |
possibly damaging |
Het |
| Sirpb1a |
A |
G |
3: 15,491,398 (GRCm39) |
F23S |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,283,906 (GRCm39) |
T449A |
probably benign |
Het |
| Smad6 |
G |
A |
9: 63,860,800 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
C |
T |
12: 69,663,764 (GRCm39) |
M573I |
probably benign |
Het |
| St8sia1 |
A |
T |
6: 142,774,661 (GRCm39) |
I306N |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,902,125 (GRCm39) |
S1674P |
possibly damaging |
Het |
| Trim47 |
G |
A |
11: 115,997,027 (GRCm39) |
R576W |
probably damaging |
Het |
| Wdr86 |
A |
T |
5: 24,927,702 (GRCm39) |
I79N |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,276,447 (GRCm39) |
V473D |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,013,581 (GRCm39) |
T428A |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,687,993 (GRCm39) |
E973G |
probably damaging |
Het |
|
| Other mutations in Dnpep |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
P0026:Dnpep
|
UTSW |
1 |
75,285,329 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0126:Dnpep
|
UTSW |
1 |
75,289,182 (GRCm39) |
nonsense |
probably null |
|
|
R0318:Dnpep
|
UTSW |
1 |
75,293,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation