Incidental Mutation 'R1076:Dnpep'
| ID |
85634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnpep
|
| Ensembl Gene |
ENSMUSG00000026209 |
| Gene Name |
aspartyl aminopeptidase |
| Synonyms |
|
| MMRRC Submission |
039162-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1076 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75285209-75294298 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 75292582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066668]
[ENSMUST00000113605]
[ENSMUST00000185419]
[ENSMUST00000185797]
[ENSMUST00000187000]
[ENSMUST00000187075]
[ENSMUST00000187836]
[ENSMUST00000189551]
[ENSMUST00000191254]
[ENSMUST00000189282]
[ENSMUST00000188652]
|
| AlphaFold |
Q9Z2W0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066668
|
| SMART Domains |
Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209
| 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 benign
Transcript: ENSMUST00000113605
|
| SMART Domains |
Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209
| 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: ENSMUST00000185419
|
| SMART Domains |
Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209
| 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 benign
Transcript: ENSMUST00000185797
|
| SMART Domains |
Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209
| 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 benign
Transcript: ENSMUST00000187000
|
| SMART Domains |
Protein: ENSMUSP00000141014
Gene: ENSMUSG00000026209
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
271 |
2.9e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187075
|
| SMART Domains |
Protein: ENSMUSP00000140877
Gene: ENSMUSG00000026209
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
222 |
1.1e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187836
|
| SMART Domains |
Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209
| 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: ENSMUST00000189551
|
| SMART Domains |
Protein: ENSMUSP00000140563
Gene: ENSMUSG00000026209
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
198 |
6.4e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187791
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang4 |
T |
C |
14: 52,001,759 (GRCm39) |
K63R |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,509,071 (GRCm39) |
N176D |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
| Cldn4 |
A |
G |
5: 134,975,191 (GRCm39) |
S137P |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,019,165 (GRCm39) |
Q157L |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,242 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
C |
T |
15: 73,412,582 (GRCm39) |
H415Y |
probably damaging |
Het |
| Dram1 |
C |
A |
10: 88,161,246 (GRCm39) |
V208L |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,343,583 (GRCm39) |
V115A |
possibly damaging |
Het |
| Fryl |
C |
T |
5: 73,282,016 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,492,692 (GRCm39) |
T707A |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,932,095 (GRCm39) |
M674K |
probably damaging |
Het |
| Larp4 |
A |
G |
15: 99,895,311 (GRCm39) |
T295A |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,399,666 (GRCm39) |
|
probably benign |
Het |
| Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,835,615 (GRCm39) |
|
probably null |
Het |
| Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
G |
2: 52,094,904 (GRCm39) |
Y4883H |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,014,283 (GRCm39) |
C286S |
probably benign |
Het |
| Pabpc4 |
T |
A |
4: 123,186,701 (GRCm39) |
D307E |
possibly damaging |
Het |
| Pik3cg |
G |
A |
12: 32,245,713 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
| Serpina3k |
A |
G |
12: 104,307,253 (GRCm39) |
T162A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,841,431 (GRCm39) |
T795A |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,784,416 (GRCm39) |
V14E |
probably damaging |
Het |
| Slc2a1 |
T |
G |
4: 118,991,645 (GRCm39) |
M351R |
probably damaging |
Het |
| Slc41a3 |
G |
A |
6: 90,621,142 (GRCm39) |
C394Y |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,302,313 (GRCm39) |
|
probably benign |
Het |
| Ulk2 |
G |
A |
11: 61,710,135 (GRCm39) |
H358Y |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,608,405 (GRCm39) |
I1544N |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,608,321 (GRCm39) |
M1572T |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
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 |
|
|
R0318:Dnpep
|
UTSW |
1 |
75,293,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0669:Dnpep
|
UTSW |
1 |
75,288,422 (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'- CGCACTCCCCAAATGGATAGAACTG -3'
(R):5'- TCATTCTTACGCTCAGGTGAAACGC -3'
Sequencing Primer
(F):5'- GGTTTCCAAACGTGGAACTTGAC -3'
(R):5'- GCTCAGGTGAAACGCAAATC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation