Incidental Mutation 'IGL02630:Ctsj'
ID |
301243 |
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 # |
IGL02630
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
61147993-61153739 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 61149214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 277
(A277T)
|
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: A276T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000071457 Gene: ENSMUSG00000055298 AA Change: A276T
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: A277T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224306
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,989,441 (GRCm39) |
V3575E |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,537,140 (GRCm39) |
|
probably benign |
Het |
Arhgap23 |
A |
G |
11: 97,345,123 (GRCm39) |
T631A |
probably benign |
Het |
Chka |
T |
A |
19: 3,942,112 (GRCm39) |
H355Q |
possibly damaging |
Het |
Ddx49 |
T |
C |
8: 70,753,668 (GRCm39) |
D67G |
probably damaging |
Het |
Dennd4b |
T |
C |
3: 90,180,284 (GRCm39) |
S716P |
probably benign |
Het |
Enpp5 |
G |
T |
17: 44,393,766 (GRCm39) |
D321Y |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,205,253 (GRCm39) |
E17G |
probably benign |
Het |
Fam161b |
G |
A |
12: 84,400,688 (GRCm39) |
P428L |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,872,586 (GRCm39) |
L256S |
probably damaging |
Het |
Fgfr2 |
G |
T |
7: 129,830,525 (GRCm39) |
|
probably null |
Het |
Foxred2 |
C |
T |
15: 77,831,362 (GRCm39) |
V484I |
probably benign |
Het |
Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
H3c1 |
C |
T |
13: 23,946,231 (GRCm39) |
V36M |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,795,456 (GRCm39) |
N271S |
possibly damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,496 (GRCm39) |
D58G |
possibly damaging |
Het |
Igkv4-80 |
A |
T |
6: 68,993,680 (GRCm39) |
Y70* |
probably null |
Het |
Ivns1abp |
G |
A |
1: 151,235,386 (GRCm39) |
R218H |
probably damaging |
Het |
Kng1 |
A |
T |
16: 22,898,595 (GRCm39) |
|
probably benign |
Het |
Lars1 |
T |
C |
18: 42,390,234 (GRCm39) |
D11G |
probably damaging |
Het |
Lgals12 |
T |
C |
19: 7,578,607 (GRCm39) |
|
probably benign |
Het |
Lpar4 |
T |
A |
X: 105,974,817 (GRCm39) |
F334I |
probably benign |
Het |
Muc5b |
G |
A |
7: 141,416,968 (GRCm39) |
G3305S |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,555,291 (GRCm39) |
D864G |
probably benign |
Het |
Ndor1 |
T |
C |
2: 25,145,299 (GRCm39) |
E22G |
probably damaging |
Het |
Nt5c2 |
T |
A |
19: 46,912,749 (GRCm39) |
M69L |
probably benign |
Het |
Or52ab4 |
A |
C |
7: 102,987,636 (GRCm39) |
Y125S |
probably damaging |
Het |
Or8k22 |
T |
C |
2: 86,163,212 (GRCm39) |
I163V |
probably benign |
Het |
Pde12 |
A |
T |
14: 26,387,552 (GRCm39) |
H455Q |
probably damaging |
Het |
Pdia6 |
A |
G |
12: 17,324,422 (GRCm39) |
H91R |
probably benign |
Het |
Pdk4 |
A |
T |
6: 5,491,671 (GRCm39) |
I179K |
possibly damaging |
Het |
Prl2c1 |
T |
C |
13: 28,041,480 (GRCm39) |
|
probably benign |
Het |
Rasgrf2 |
C |
T |
13: 92,267,900 (GRCm39) |
E35K |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
Secisbp2 |
C |
A |
13: 51,832,942 (GRCm39) |
T608K |
possibly damaging |
Het |
Slco1a7 |
T |
C |
6: 141,668,836 (GRCm39) |
Y532C |
probably damaging |
Het |
Slmap |
A |
G |
14: 26,143,586 (GRCm39) |
V750A |
possibly damaging |
Het |
Spaca6 |
T |
A |
17: 18,051,351 (GRCm39) |
L9Q |
probably damaging |
Het |
Sycp1 |
T |
C |
3: 102,786,080 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,043,712 (GRCm39) |
D131E |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,659,404 (GRCm39) |
D176E |
probably damaging |
Het |
Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,202,143 (GRCm39) |
V1590A |
possibly damaging |
Het |
Tyrp1 |
T |
C |
4: 80,758,994 (GRCm39) |
V289A |
possibly damaging |
Het |
Ube2dnl1 |
T |
A |
X: 113,815,483 (GRCm39) |
C119* |
probably null |
Het |
Vmn1r191 |
T |
A |
13: 22,363,431 (GRCm39) |
I108F |
possibly damaging |
Het |
Zfp710 |
T |
A |
7: 79,731,789 (GRCm39) |
I322N |
probably damaging |
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 |
IGL02809:Ctsj
|
APN |
13 |
61,150,974 (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 |
2015-04-16 |