Incidental Mutation 'R6143:Dnpep'
| ID |
488654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnpep
|
| Ensembl Gene |
ENSMUSG00000026209 |
| Gene Name |
aspartyl aminopeptidase |
| Synonyms |
|
| MMRRC Submission |
044290-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6143 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75285209-75294298 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75291872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 214
(H214Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066668]
[ENSMUST00000113605]
[ENSMUST00000185419]
[ENSMUST00000185797]
[ENSMUST00000187000]
[ENSMUST00000187075]
[ENSMUST00000187836]
[ENSMUST00000188652]
[ENSMUST00000191254]
[ENSMUST00000189282]
[ENSMUST00000189551]
|
| AlphaFold |
Q9Z2W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066668
AA Change: H214Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209
AA Change: H214Y
| 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: H214Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209
AA Change: H214Y
| 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: H214Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209
AA Change: H214Y
| 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: H216Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209
AA Change: H216Y
| 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: H214Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141014
Gene: ENSMUSG00000026209
AA Change: H214Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
271 |
2.9e-102 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187075
AA Change: H214Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140877
Gene: ENSMUSG00000026209
AA Change: H214Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
222 |
1.1e-80 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187836
AA Change: H214Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209
AA Change: H214Y
| 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: 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 |
|
| 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: ENSMUST00000189551
|
| SMART Domains |
Protein: ENSMUSP00000140563
Gene: ENSMUSG00000026209
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M18
|
22 |
198 |
6.4e-75 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730061H03Rik |
A |
G |
14: 55,797,736 (GRCm39) |
|
probably benign |
Het |
| Abcd2 |
A |
T |
15: 91,075,150 (GRCm39) |
V221E |
possibly damaging |
Het |
| Arhgap39 |
T |
A |
15: 76,614,606 (GRCm39) |
K853* |
probably null |
Het |
| Art2a |
T |
C |
7: 101,204,430 (GRCm39) |
D36G |
possibly damaging |
Het |
| Atp13a1 |
C |
T |
8: 70,258,010 (GRCm39) |
P922S |
probably benign |
Het |
| Brwd1 |
C |
T |
16: 95,804,156 (GRCm39) |
G2005R |
probably benign |
Het |
| Bzw2 |
A |
T |
12: 36,170,725 (GRCm39) |
M133K |
probably benign |
Het |
| Cacna1s |
T |
G |
1: 136,004,496 (GRCm39) |
S346A |
probably damaging |
Het |
| Cebpb |
C |
A |
2: 167,531,220 (GRCm39) |
D93E |
probably benign |
Het |
| Cep162 |
C |
A |
9: 87,094,904 (GRCm39) |
|
probably null |
Het |
| Col9a2 |
A |
T |
4: 120,911,060 (GRCm39) |
Y565F |
probably damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,826,202 (GRCm39) |
N372I |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,138,315 (GRCm39) |
D1579G |
probably damaging |
Het |
| Cyfip2 |
A |
C |
11: 46,144,792 (GRCm39) |
Y687* |
probably null |
Het |
| Cyp2d34 |
G |
A |
15: 82,504,977 (GRCm39) |
R28W |
probably benign |
Het |
| Dbndd2 |
C |
A |
2: 164,330,206 (GRCm39) |
Q13K |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,233,377 (GRCm39) |
S245R |
probably benign |
Het |
| Dnajb5 |
A |
T |
4: 42,956,990 (GRCm39) |
T226S |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,838,430 (GRCm39) |
E211G |
probably benign |
Het |
| Drc3 |
G |
A |
11: 60,261,406 (GRCm39) |
V186M |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,345,789 (GRCm39) |
D413G |
possibly damaging |
Het |
| Dyrk4 |
C |
T |
6: 126,863,614 (GRCm39) |
|
probably null |
Het |
| Edc4 |
T |
A |
8: 106,612,506 (GRCm39) |
D181E |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,393,487 (GRCm39) |
Y247C |
possibly damaging |
Het |
| Gm5622 |
A |
T |
14: 51,892,372 (GRCm39) |
R50S |
possibly damaging |
Het |
| Gpbp1 |
G |
A |
13: 111,603,389 (GRCm39) |
T20I |
probably damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,184,410 (GRCm39) |
Y276* |
probably null |
Het |
| Hsd3b7 |
A |
C |
7: 127,400,404 (GRCm39) |
E51A |
probably damaging |
Het |
| Ighv5-16 |
G |
T |
12: 113,802,238 (GRCm39) |
F87L |
probably damaging |
Het |
| Iqsec1 |
C |
T |
6: 90,786,666 (GRCm39) |
|
probably null |
Het |
| Irgm2 |
A |
T |
11: 58,111,435 (GRCm39) |
E387D |
possibly damaging |
Het |
| Klhl23 |
C |
A |
2: 69,664,040 (GRCm39) |
P463Q |
possibly damaging |
Het |
| Mast4 |
A |
T |
13: 102,990,391 (GRCm39) |
N43K |
probably damaging |
Het |
| Mme |
T |
G |
3: 63,207,532 (GRCm39) |
|
probably null |
Het |
| Mrps31 |
T |
G |
8: 22,901,539 (GRCm39) |
S20A |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,157,091 (GRCm39) |
R176G |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,330,347 (GRCm39) |
V291A |
possibly damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,290,466 (GRCm39) |
H1021L |
possibly damaging |
Het |
| Ncaph2 |
T |
C |
15: 89,248,206 (GRCm39) |
|
probably null |
Het |
| Neurod4 |
T |
G |
10: 130,106,869 (GRCm39) |
Y135S |
probably damaging |
Het |
| Nrp2 |
A |
T |
1: 62,799,974 (GRCm39) |
N396I |
probably damaging |
Het |
| Nvl |
T |
G |
1: 180,962,560 (GRCm39) |
T137P |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,703,335 (GRCm39) |
D273G |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pcdhgc4 |
T |
A |
18: 37,950,653 (GRCm39) |
S690T |
possibly damaging |
Het |
| Pck1 |
A |
T |
2: 172,995,805 (GRCm39) |
D101V |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,094,265 (GRCm39) |
N329Y |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,825,447 (GRCm39) |
R648W |
probably damaging |
Het |
| Prtn3 |
T |
A |
10: 79,716,382 (GRCm39) |
I63N |
probably damaging |
Het |
| Psg22 |
C |
T |
7: 18,456,723 (GRCm39) |
A163V |
probably benign |
Het |
| Pten |
A |
G |
19: 32,777,485 (GRCm39) |
T160A |
possibly damaging |
Het |
| Retreg2 |
A |
G |
1: 75,123,530 (GRCm39) |
D449G |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,317,868 (GRCm39) |
Y1531C |
probably benign |
Het |
| Sgk2 |
T |
A |
2: 162,841,174 (GRCm39) |
C195S |
probably damaging |
Het |
| Slc19a3 |
C |
T |
1: 83,004,060 (GRCm39) |
V14I |
probably benign |
Het |
| Snai2 |
A |
T |
16: 14,526,107 (GRCm39) |
R253* |
probably null |
Het |
| Speg |
G |
A |
1: 75,391,031 (GRCm39) |
V1512I |
probably damaging |
Het |
| Srsf1 |
G |
A |
11: 87,940,425 (GRCm39) |
|
probably benign |
Het |
| Tctn3 |
G |
T |
19: 40,597,671 (GRCm39) |
T190N |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,687,558 (GRCm39) |
I117L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
| Vmn2r118 |
G |
T |
17: 55,899,871 (GRCm39) |
L678I |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,668,884 (GRCm39) |
S1594P |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,135 (GRCm39) |
H1791N |
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 |
|
|
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'- AAGTGCCACCAACTGGGAAG -3'
(R):5'- GAGTCCCTATTCTTGCCACAG -3'
Sequencing Primer
(F):5'- TGAGACTAACTGAGGAGCTTCG -3'
(R):5'- TGCCACAGCAGTTCAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation