Incidental Mutation 'R2964:Asprv1'
| ID |
255969 |
| 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 |
| MMRRC Submission |
040520-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86605216-86606692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86605348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 65
(C65S)
|
| 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: C65S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046121
Gene: ENSMUSG00000033508
AA Change: C65S
| 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 |
|
| Meta Mutation Damage Score |
0.1483 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
| Acox3 |
T |
C |
5: 35,762,611 (GRCm39) |
I495T |
possibly damaging |
Het |
| Acsl3 |
A |
G |
1: 78,672,011 (GRCm39) |
S302G |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,628,018 (GRCm39) |
S39P |
unknown |
Het |
| Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
| Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,565,679 (GRCm39) |
|
probably benign |
Het |
| Dbi |
C |
T |
1: 120,047,846 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,607,460 (GRCm39) |
|
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
| Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,548,085 (GRCm39) |
S184P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,386,538 (GRCm39) |
|
probably null |
Het |
| H2-T22 |
A |
G |
17: 36,351,537 (GRCm39) |
L231S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,426 (GRCm39) |
C322R |
probably benign |
Het |
| Ing1 |
T |
A |
8: 11,611,641 (GRCm39) |
S26R |
probably benign |
Het |
| Kif3a |
A |
T |
11: 53,469,757 (GRCm39) |
I123F |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,444,489 (GRCm39) |
E1127G |
probably damaging |
Het |
| Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
| Mdc1 |
A |
T |
17: 36,164,529 (GRCm39) |
Q1359L |
possibly damaging |
Het |
| Mdga1 |
A |
T |
17: 30,071,442 (GRCm39) |
I393N |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,345,067 (GRCm39) |
V509A |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
| Nlrp4d |
G |
T |
7: 10,112,256 (GRCm39) |
S626* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,215,358 (GRCm39) |
I732K |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,738,914 (GRCm39) |
S14P |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,342,779 (GRCm39) |
F61L |
probably damaging |
Het |
| Or1l8 |
G |
A |
2: 36,817,419 (GRCm39) |
R236C |
probably benign |
Het |
| Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,272 (GRCm39) |
V28M |
probably damaging |
Het |
| Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
| Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,775,937 (GRCm39) |
K616M |
possibly damaging |
Het |
| Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
| Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
probably benign |
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 |
|
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 |
|
R8775-TAIL: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 |
PCR Primer
(F):5'- TAGGGGTGGAGCTTCTAGAAC -3'
(R):5'- TGGTGGCATGATCCCAATGG -3'
Sequencing Primer
(F):5'- GGTGGAGCTTCTAGAACAAAGG -3'
(R):5'- CATGATCCCAATGGTTGAGGTCATC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation