Incidental Mutation 'IGL02809:Ctsj'
| ID |
360511 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctsj
|
| Ensembl Gene |
ENSMUSG00000055298 |
| Gene Name |
cathepsin J |
| Synonyms |
CATP, CatRLP, Ctsp, Cat P, rat gene/Cathepsin L-related protein |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02809
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
61147993-61153739 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61150974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 162
(S162N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071526]
[ENSMUST00000224224]
|
| AlphaFold |
Q9R014 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071526
AA Change: S161N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071457
Gene: ENSMUSG00000055298
AA Change: S161N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
29 |
87 |
1.18e-21 |
SMART |
|
Pept_C1
|
113 |
331 |
3.3e-109 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224224
AA Change: S162N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224306
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camkmt |
A |
T |
17: 85,702,076 (GRCm39) |
N180I |
probably damaging |
Het |
| Card9 |
A |
G |
2: 26,246,876 (GRCm39) |
M324T |
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,414,555 (GRCm39) |
|
probably benign |
Het |
| Cerkl |
A |
G |
2: 79,172,546 (GRCm39) |
S349P |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,168,441 (GRCm39) |
I1601M |
possibly damaging |
Het |
| Fpr-rs3 |
T |
A |
17: 20,844,225 (GRCm39) |
R305S |
probably damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,378,416 (GRCm39) |
V178A |
unknown |
Het |
| Itga4 |
A |
G |
2: 79,110,921 (GRCm39) |
Y253C |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,914,645 (GRCm39) |
F655S |
probably damaging |
Het |
| Manba |
A |
G |
3: 135,253,321 (GRCm39) |
D414G |
probably damaging |
Het |
| Nfkbid |
C |
T |
7: 30,124,660 (GRCm39) |
T7I |
possibly damaging |
Het |
| Ngly1 |
G |
T |
14: 16,281,791 (GRCm38) |
C349F |
probably damaging |
Het |
| Palld |
T |
C |
8: 61,968,281 (GRCm39) |
N1095S |
probably damaging |
Het |
| Sp100 |
C |
T |
1: 85,608,845 (GRCm39) |
R325W |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,491,010 (GRCm39) |
|
probably null |
Het |
| Tle2 |
C |
A |
10: 81,422,196 (GRCm39) |
|
probably null |
Het |
| Tlr13 |
G |
T |
X: 105,200,297 (GRCm39) |
|
probably benign |
Het |
| Ttc32 |
G |
A |
12: 9,085,879 (GRCm39) |
R142Q |
possibly damaging |
Het |
| Ubap2l |
G |
A |
3: 89,928,553 (GRCm39) |
T526M |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,328,150 (GRCm39) |
E124G |
probably benign |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,930 (GRCm39) |
F173L |
probably benign |
Het |
| Xab2 |
T |
C |
8: 3,660,175 (GRCm39) |
S851G |
probably benign |
Het |
| Zfp808 |
A |
G |
13: 62,320,994 (GRCm39) |
K741R |
probably benign |
Het |
|
| Other mutations in Ctsj |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Ctsj
|
APN |
13 |
61,149,232 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02199:Ctsj
|
APN |
13 |
61,150,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02630:Ctsj
|
APN |
13 |
61,149,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03066:Ctsj
|
APN |
13 |
61,152,302 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02799:Ctsj
|
UTSW |
13 |
61,151,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4581001:Ctsj
|
UTSW |
13 |
61,150,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0094:Ctsj
|
UTSW |
13 |
61,151,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0586:Ctsj
|
UTSW |
13 |
61,151,515 (GRCm39) |
splice site |
probably benign |
|
|
R0841:Ctsj
|
UTSW |
13 |
61,150,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1145:Ctsj
|
UTSW |
13 |
61,150,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1145:Ctsj
|
UTSW |
13 |
61,150,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1146:Ctsj
|
UTSW |
13 |
61,150,312 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1146:Ctsj
|
UTSW |
13 |
61,150,312 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2201:Ctsj
|
UTSW |
13 |
61,150,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2402:Ctsj
|
UTSW |
13 |
61,148,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5081:Ctsj
|
UTSW |
13 |
61,151,664 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5325:Ctsj
|
UTSW |
13 |
61,151,839 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5416:Ctsj
|
UTSW |
13 |
61,152,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5776:Ctsj
|
UTSW |
13 |
61,150,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6802:Ctsj
|
UTSW |
13 |
61,150,888 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7072:Ctsj
|
UTSW |
13 |
61,150,897 (GRCm39) |
nonsense |
probably null |
|
|
R7331:Ctsj
|
UTSW |
13 |
61,151,645 (GRCm39) |
missense |
probably benign |
|
|
R7386:Ctsj
|
UTSW |
13 |
61,148,373 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7853:Ctsj
|
UTSW |
13 |
61,151,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8164:Ctsj
|
UTSW |
13 |
61,150,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8286:Ctsj
|
UTSW |
13 |
61,148,330 (GRCm39) |
nonsense |
probably null |
|
|
R8300:Ctsj
|
UTSW |
13 |
61,150,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8300:Ctsj
|
UTSW |
13 |
61,150,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Ctsj
|
UTSW |
13 |
61,149,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Ctsj
|
UTSW |
13 |
61,149,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Ctsj
|
UTSW |
13 |
61,151,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9445:Ctsj
|
UTSW |
13 |
61,151,838 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9522:Ctsj
|
UTSW |
13 |
61,152,257 (GRCm39) |
nonsense |
probably null |
|
|
R9632:Ctsj
|
UTSW |
13 |
61,151,828 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1176:Ctsj
|
UTSW |
13 |
61,151,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation