Incidental Mutation 'R8775-TAIL:Asprv1'
ID |
668023 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asprv1
|
Ensembl Gene |
ENSMUSG00000033508 |
Gene Name |
aspartic peptidase, retroviral-like 1 |
Synonyms |
TPA-induced aspartic proteinase-like, Taps, 2300003P22Rik, SASP, SASPase |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8775-TAIL
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
86605216-86606692 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86605321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 56
(S56P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043400]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043400
AA Change: S56P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000046121 Gene: ENSMUSG00000033508 AA Change: S56P
Domain | Start | End | E-Value | Type |
Pfam:Asp_protease
|
177 |
295 |
1.3e-8 |
PFAM |
Pfam:Asp_protease_2
|
196 |
286 |
1.6e-10 |
PFAM |
low complexity region
|
314 |
338 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null allele develop fine skin wrinkles at the side of their body without any apparent epidermal differentiation defect. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
T |
C |
6: 39,552,142 (GRCm39) |
|
probably null |
Het |
Alpk3 |
A |
C |
7: 80,727,598 (GRCm39) |
M243L |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,499,093 (GRCm39) |
Y860N |
possibly damaging |
Het |
Blm |
TCC |
TCCACC |
7: 80,162,679 (GRCm39) |
|
probably benign |
Het |
D130043K22Rik |
G |
T |
13: 25,040,982 (GRCm39) |
E135* |
probably null |
Het |
Dnmt3b |
A |
G |
2: 153,511,711 (GRCm39) |
H293R |
possibly damaging |
Het |
Dsg1a |
C |
T |
18: 20,473,564 (GRCm39) |
S879L |
probably damaging |
Het |
Fbxo24 |
C |
T |
5: 137,611,213 (GRCm39) |
A526T |
possibly damaging |
Het |
Fign |
A |
T |
2: 63,810,891 (GRCm39) |
D126E |
probably benign |
Het |
Gpr137 |
A |
G |
19: 6,915,800 (GRCm39) |
F377L |
probably damaging |
Het |
Gsdma2 |
A |
G |
11: 98,540,009 (GRCm39) |
K44E |
probably damaging |
Het |
Iigp1 |
A |
C |
18: 60,523,596 (GRCm39) |
Y238S |
probably damaging |
Het |
Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
Kcnip2 |
T |
C |
19: 45,782,149 (GRCm39) |
N258S |
possibly damaging |
Het |
Lcat |
A |
G |
8: 106,669,023 (GRCm39) |
I84T |
possibly damaging |
Het |
Mansc1 |
C |
T |
6: 134,587,631 (GRCm39) |
R182H |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,148,006 (GRCm39) |
M1685T |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,800,145 (GRCm39) |
V1407E |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,375,410 (GRCm39) |
S297P |
probably benign |
Het |
Nefm |
T |
C |
14: 68,362,108 (GRCm39) |
Y52C |
probably damaging |
Het |
Ntng2 |
A |
T |
2: 29,117,976 (GRCm39) |
N157K |
possibly damaging |
Het |
Oscp1 |
T |
C |
4: 125,970,619 (GRCm39) |
V136A |
probably benign |
Het |
Oser1 |
G |
A |
2: 163,249,004 (GRCm39) |
T66I |
probably benign |
Het |
Palld |
A |
G |
8: 62,138,006 (GRCm39) |
L583P |
possibly damaging |
Het |
Pex7 |
A |
G |
10: 19,760,522 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
A |
G |
9: 101,004,204 (GRCm39) |
Y378H |
probably benign |
Het |
Prss33 |
T |
A |
17: 24,052,885 (GRCm39) |
N263I |
possibly damaging |
Het |
Psg25 |
A |
C |
7: 18,255,153 (GRCm39) |
C454W |
probably damaging |
Het |
Ptpn21 |
T |
C |
12: 98,649,001 (GRCm39) |
|
probably null |
Het |
Sh3bp2 |
A |
T |
5: 34,719,751 (GRCm39) |
S587C |
probably damaging |
Het |
Sos2 |
A |
G |
12: 69,664,006 (GRCm39) |
F493L |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,519,472 (GRCm39) |
T339S |
possibly damaging |
Het |
Taok1 |
T |
C |
11: 77,470,632 (GRCm39) |
K58E |
probably benign |
Het |
Thsd1 |
A |
G |
8: 22,749,643 (GRCm39) |
D838G |
possibly damaging |
Het |
Tulp2 |
A |
G |
7: 45,164,914 (GRCm39) |
T65A |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,638,466 (GRCm39) |
S205T |
probably benign |
Het |
Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
Vmn2r37 |
A |
T |
7: 9,218,991 (GRCm39) |
Y464* |
probably null |
Het |
Wdsub1 |
A |
G |
2: 59,693,014 (GRCm39) |
M300T |
probably damaging |
Het |
Xrcc5 |
C |
T |
1: 72,433,089 (GRCm39) |
T716I |
probably benign |
Het |
Zfp619 |
G |
T |
7: 39,184,639 (GRCm39) |
C223F |
possibly damaging |
Het |
|
Other mutations in Asprv1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02186:Asprv1
|
APN |
6 |
86,605,900 (GRCm39) |
missense |
probably damaging |
0.99 |
quince
|
UTSW |
6 |
86,605,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R0254:Asprv1
|
UTSW |
6 |
86,606,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R0311:Asprv1
|
UTSW |
6 |
86,605,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R1538:Asprv1
|
UTSW |
6 |
86,605,618 (GRCm39) |
nonsense |
probably null |
|
R1661:Asprv1
|
UTSW |
6 |
86,605,718 (GRCm39) |
missense |
probably damaging |
0.97 |
R1792:Asprv1
|
UTSW |
6 |
86,605,354 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2964:Asprv1
|
UTSW |
6 |
86,605,348 (GRCm39) |
missense |
probably damaging |
0.98 |
R2965:Asprv1
|
UTSW |
6 |
86,605,348 (GRCm39) |
missense |
probably damaging |
0.98 |
R2966:Asprv1
|
UTSW |
6 |
86,605,348 (GRCm39) |
missense |
probably damaging |
0.98 |
R4748:Asprv1
|
UTSW |
6 |
86,605,405 (GRCm39) |
missense |
probably damaging |
0.98 |
R5600:Asprv1
|
UTSW |
6 |
86,606,044 (GRCm39) |
nonsense |
probably null |
|
R5655:Asprv1
|
UTSW |
6 |
86,605,464 (GRCm39) |
missense |
probably benign |
0.05 |
R5704:Asprv1
|
UTSW |
6 |
86,605,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R5715:Asprv1
|
UTSW |
6 |
86,605,596 (GRCm39) |
missense |
probably benign |
|
R6259:Asprv1
|
UTSW |
6 |
86,605,361 (GRCm39) |
missense |
probably benign |
0.05 |
R6899:Asprv1
|
UTSW |
6 |
86,605,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R7451:Asprv1
|
UTSW |
6 |
86,605,930 (GRCm39) |
missense |
probably benign |
0.00 |
R7593:Asprv1
|
UTSW |
6 |
86,605,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R7648:Asprv1
|
UTSW |
6 |
86,605,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8425:Asprv1
|
UTSW |
6 |
86,605,851 (GRCm39) |
missense |
probably benign |
0.15 |
R8775:Asprv1
|
UTSW |
6 |
86,605,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R8882:Asprv1
|
UTSW |
6 |
86,605,349 (GRCm39) |
missense |
probably benign |
0.02 |
R9091:Asprv1
|
UTSW |
6 |
86,606,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R9270:Asprv1
|
UTSW |
6 |
86,606,077 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Asprv1
|
UTSW |
6 |
86,605,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2021-03-08 |