Incidental Mutation 'R1478:Dnpep'
ID |
165594 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnpep
|
Ensembl Gene |
ENSMUSG00000026209 |
Gene Name |
aspartyl aminopeptidase |
Synonyms |
|
MMRRC Submission |
039531-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1478 (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 75292671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 114
(V114A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140563
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066668]
[ENSMUST00000113605]
[ENSMUST00000185419]
[ENSMUST00000185797]
[ENSMUST00000187000]
[ENSMUST00000187075]
[ENSMUST00000189551]
[ENSMUST00000191254]
[ENSMUST00000187836]
[ENSMUST00000188652]
[ENSMUST00000189282]
|
AlphaFold |
Q9Z2W0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066668
AA Change: V114A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000070821 Gene: ENSMUSG00000026209 AA Change: V114A
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: V114A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109235 Gene: ENSMUSG00000026209 AA Change: V114A
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 |
possibly damaging
Transcript: ENSMUST00000185419
AA Change: V114A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140035 Gene: ENSMUSG00000026209 AA Change: V114A
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: V116A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140864 Gene: ENSMUSG00000026209 AA Change: V116A
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 |
possibly damaging
Transcript: ENSMUST00000187000
AA Change: V114A
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141014 Gene: ENSMUSG00000026209 AA Change: V114A
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M18
|
22 |
271 |
2.9e-102 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187075
AA Change: V114A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140877 Gene: ENSMUSG00000026209 AA Change: V114A
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M18
|
22 |
222 |
1.1e-80 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189551
AA Change: V114A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140563 Gene: ENSMUSG00000026209 AA Change: V114A
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M18
|
22 |
198 |
6.4e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191254
AA Change: V78A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140997 Gene: ENSMUSG00000026209 AA Change: V78A
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: V114A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000139739 Gene: ENSMUSG00000026209 AA Change: V114A
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: ENSMUST00000189282
|
SMART Domains |
Protein: ENSMUSP00000141187 Gene: ENSMUSG00000026209
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M18
|
22 |
57 |
1.3e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.6%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
A |
5: 125,580,287 (GRCm39) |
I204N |
possibly damaging |
Het |
Acaca |
A |
G |
11: 84,263,453 (GRCm39) |
T2025A |
probably damaging |
Het |
B4galt3 |
C |
T |
1: 171,103,938 (GRCm39) |
R170C |
probably benign |
Het |
BC028528 |
T |
C |
3: 95,799,271 (GRCm39) |
|
probably null |
Het |
Ccdc73 |
A |
T |
2: 104,737,955 (GRCm39) |
Q17L |
possibly damaging |
Het |
Ccdc73 |
A |
G |
2: 104,745,012 (GRCm39) |
T50A |
possibly damaging |
Het |
Ccdc83 |
T |
C |
7: 89,908,677 (GRCm39) |
D19G |
probably damaging |
Het |
Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
Cct8l1 |
T |
C |
5: 25,722,767 (GRCm39) |
V494A |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,959,769 (GRCm39) |
F663L |
probably damaging |
Het |
Chn2 |
A |
T |
6: 54,270,065 (GRCm39) |
E319V |
probably damaging |
Het |
Cnnm1 |
T |
C |
19: 43,460,295 (GRCm39) |
V679A |
probably damaging |
Het |
Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
Cyp3a11 |
G |
T |
5: 145,795,581 (GRCm39) |
L457I |
probably benign |
Het |
Dera |
T |
A |
6: 137,807,193 (GRCm39) |
S214T |
possibly damaging |
Het |
Dmtf1 |
A |
G |
5: 9,171,404 (GRCm39) |
V501A |
possibly damaging |
Het |
Dscam |
C |
T |
16: 96,592,110 (GRCm39) |
V722M |
probably benign |
Het |
Dsp |
A |
G |
13: 38,365,114 (GRCm39) |
N499S |
probably damaging |
Het |
Ecd |
A |
T |
14: 20,396,725 (GRCm39) |
Y53* |
probably null |
Het |
Esyt3 |
T |
C |
9: 99,200,119 (GRCm39) |
T692A |
probably benign |
Het |
Fat1 |
T |
A |
8: 45,478,659 (GRCm39) |
N2545K |
probably damaging |
Het |
Fndc3a |
A |
G |
14: 72,795,072 (GRCm39) |
|
probably null |
Het |
Fscn3 |
A |
G |
6: 28,430,567 (GRCm39) |
M246V |
probably benign |
Het |
Gde1 |
G |
T |
7: 118,291,007 (GRCm39) |
T106K |
probably benign |
Het |
Gjc2 |
A |
G |
11: 59,068,434 (GRCm39) |
I16T |
possibly damaging |
Het |
Hacd4 |
A |
T |
4: 88,341,260 (GRCm39) |
M168K |
probably damaging |
Het |
Hmx3 |
A |
G |
7: 131,145,826 (GRCm39) |
E178G |
probably damaging |
Het |
Htt |
A |
G |
5: 34,961,171 (GRCm39) |
Y266C |
probably damaging |
Het |
Jkampl |
A |
T |
6: 73,446,039 (GRCm39) |
L170Q |
probably damaging |
Het |
Kif27 |
G |
T |
13: 58,451,359 (GRCm39) |
R990S |
probably damaging |
Het |
Krtap22-2 |
A |
T |
16: 88,807,534 (GRCm39) |
Y21* |
probably null |
Het |
Lrrc41 |
T |
A |
4: 115,952,405 (GRCm39) |
L661* |
probably null |
Het |
Lrrc63 |
T |
C |
14: 75,363,424 (GRCm39) |
T236A |
probably benign |
Het |
Mmp13 |
T |
C |
9: 7,272,892 (GRCm39) |
L84P |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,183,551 (GRCm39) |
I754T |
probably benign |
Het |
Neb |
A |
C |
2: 52,065,619 (GRCm39) |
D5961E |
probably benign |
Het |
Nlrx1 |
T |
C |
9: 44,175,374 (GRCm39) |
H134R |
probably benign |
Het |
Npepps |
A |
T |
11: 97,117,673 (GRCm39) |
M542K |
probably benign |
Het |
Nup160 |
C |
T |
2: 90,509,743 (GRCm39) |
|
probably benign |
Het |
Or3a1c |
T |
A |
11: 74,045,963 (GRCm39) |
|
probably null |
Het |
Or8g33 |
T |
A |
9: 39,337,888 (GRCm39) |
T160S |
possibly damaging |
Het |
Pikfyve |
T |
C |
1: 65,302,136 (GRCm39) |
|
probably null |
Het |
Ppp6r1 |
A |
T |
7: 4,643,377 (GRCm39) |
|
probably null |
Het |
Prss33 |
A |
G |
17: 24,054,072 (GRCm39) |
W45R |
probably damaging |
Het |
Ptprf |
A |
T |
4: 118,069,302 (GRCm39) |
Y980* |
probably null |
Het |
Qrich1 |
T |
C |
9: 108,436,531 (GRCm39) |
V743A |
probably benign |
Het |
Rev3l |
G |
A |
10: 39,659,329 (GRCm39) |
|
probably null |
Het |
Samd9l |
A |
T |
6: 3,376,369 (GRCm39) |
N297K |
probably benign |
Het |
Sap130 |
A |
G |
18: 31,813,527 (GRCm39) |
H528R |
possibly damaging |
Het |
Slc9b2 |
T |
C |
3: 135,031,863 (GRCm39) |
V241A |
probably benign |
Het |
Snx14 |
A |
T |
9: 88,276,581 (GRCm39) |
V577E |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,034,876 (GRCm39) |
S507P |
probably benign |
Het |
Stat2 |
A |
G |
10: 128,117,969 (GRCm39) |
|
probably null |
Het |
Susd5 |
T |
C |
9: 113,925,752 (GRCm39) |
F545S |
probably benign |
Het |
Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
Tnnt2 |
A |
G |
1: 135,775,764 (GRCm39) |
T107A |
probably benign |
Het |
Trappc6b |
T |
A |
12: 59,094,953 (GRCm39) |
I41F |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,682,417 (GRCm39) |
|
probably benign |
Het |
Vmn1r88 |
A |
C |
7: 12,911,878 (GRCm39) |
D78A |
probably damaging |
Het |
Xpc |
C |
T |
6: 91,485,510 (GRCm39) |
D122N |
possibly damaging |
Het |
Xpo1 |
C |
T |
11: 23,241,623 (GRCm39) |
A890V |
probably damaging |
Het |
Zfp493 |
A |
G |
13: 67,934,680 (GRCm39) |
H211R |
probably damaging |
Het |
Zfp958 |
A |
T |
8: 4,679,190 (GRCm39) |
H405L |
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 |
|
R1076:Dnpep
|
UTSW |
1 |
75,292,582 (GRCm39) |
unclassified |
probably benign |
|
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'- TATATGGACGAGCCTCTGCTCCAG -3'
(R):5'- AGCTGTCAACTGATGTGCTATCTGC -3'
Sequencing Primer
(F):5'- CGAGGACTCTTCACTGGTACAC -3'
(R):5'- GCTCTGTATAACTTACTGCCTGAG -3'
|
Posted On |
2014-03-28 |