Incidental Mutation 'R8214:Dnpep'
| ID |
636297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnpep
|
| Ensembl Gene |
ENSMUSG00000026209 |
| Gene Name |
aspartyl aminopeptidase |
| Synonyms |
|
| MMRRC Submission |
067656-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8214 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75285209-75294298 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75292642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 126
(W126R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066668]
[ENSMUST00000113605]
[ENSMUST00000185419]
[ENSMUST00000185797]
[ENSMUST00000187000]
[ENSMUST00000187075]
[ENSMUST00000187836]
[ENSMUST00000188652]
[ENSMUST00000189282]
[ENSMUST00000189551]
[ENSMUST00000191254]
|
| AlphaFold |
Q9Z2W0 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209
AA Change: W124R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209
AA Change: W124R
| 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: W124R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209
AA Change: W124R
| 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: W126R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209
AA Change: W126R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000141014
Gene: ENSMUSG00000026209
AA Change: W124R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
271 |
2.9e-102 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000140877
Gene: ENSMUSG00000026209
AA Change: W124R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
222 |
1.1e-80 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209
AA Change: W124R
| 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 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: 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 damaging
Transcript: ENSMUST00000189551
AA Change: W124R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140563
Gene: ENSMUSG00000026209
AA Change: W124R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
198 |
6.4e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191254
AA Change: W88R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140997
Gene: ENSMUSG00000026209
AA Change: W88R
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
A |
11: 58,177,447 (GRCm39) |
R52Q |
|
Het |
| Abcc3 |
C |
T |
11: 94,254,344 (GRCm39) |
R718H |
probably damaging |
Het |
| Abcc4 |
T |
C |
14: 118,738,253 (GRCm39) |
M1166V |
probably benign |
Het |
| Abhd16b |
C |
T |
2: 181,135,983 (GRCm39) |
T295I |
probably damaging |
Het |
| Amph |
A |
G |
13: 19,288,468 (GRCm39) |
N319S |
possibly damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,313,944 (GRCm39) |
D425G |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,712,609 (GRCm39) |
S316P |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,431,921 (GRCm39) |
S649P |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,444,196 (GRCm39) |
S411P |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,228,215 (GRCm39) |
E987G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,021,711 (GRCm39) |
D3537G |
probably damaging |
Het |
| Efcab2 |
T |
C |
1: 178,265,015 (GRCm39) |
V27A |
probably benign |
Het |
| Kctd21 |
T |
C |
7: 96,996,548 (GRCm39) |
L7P |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,044,854 (GRCm39) |
T216I |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,345,257 (GRCm39) |
M87K |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,177,691 (GRCm39) |
V1646A |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,502,592 (GRCm39) |
T359A |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,356,685 (GRCm39) |
K1092E |
possibly damaging |
Het |
| Nrg2 |
T |
C |
18: 36,329,729 (GRCm39) |
E162G |
probably benign |
Het |
| Or10ak11 |
A |
T |
4: 118,687,288 (GRCm39) |
F117L |
probably benign |
Het |
| Or52e2 |
A |
C |
7: 102,804,613 (GRCm39) |
S114A |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,174 (GRCm39) |
S109T |
probably benign |
Het |
| Pcdhb5 |
G |
T |
18: 37,454,636 (GRCm39) |
V339L |
probably benign |
Het |
| Plec |
A |
G |
15: 76,076,484 (GRCm39) |
W145R |
unknown |
Het |
| Polr3f |
A |
G |
2: 144,378,230 (GRCm39) |
N201D |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,662,139 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
A |
G |
18: 58,070,791 (GRCm39) |
I1048V |
probably benign |
Het |
| Sult2a4 |
A |
G |
7: 13,723,401 (GRCm39) |
I39T |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,544,614 (GRCm39) |
V2247A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,645,247 (GRCm39) |
R2385C |
probably damaging |
Het |
| Tomm70a |
G |
T |
16: 56,942,330 (GRCm39) |
A36S |
unknown |
Het |
| Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,369,347 (GRCm39) |
I636V |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,824,714 (GRCm39) |
I629M |
possibly damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,424 (GRCm39) |
E66G |
noncoding transcript |
Het |
| Vmn1r189 |
C |
T |
13: 22,286,301 (GRCm39) |
V179I |
probably benign |
Het |
| Vmn2r105 |
T |
G |
17: 20,448,775 (GRCm39) |
E134A |
probably benign |
Het |
| Wdr70 |
G |
A |
15: 7,916,851 (GRCm39) |
A522V |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,142,995 (GRCm39) |
C234S |
probably damaging |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly 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 |
|
|
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 |
|
|
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'- TGGGCCGTTCTATATGGACG -3'
(R):5'- AACTGATGTGCTATCTGCTCTG -3'
Sequencing Primer
(F):5'- CTATATGGACGAGCCTCTGC -3'
(R):5'- GCTCTGTATAACTTACTGCCTGAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation