Incidental Mutation 'R1145:Ctsj'
ID |
165078 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctsj
|
Ensembl Gene |
ENSMUSG00000055298 |
Gene Name |
cathepsin J |
Synonyms |
CATP, CatRLP, Ctsp, Cat P, rat gene/Cathepsin L-related protein |
MMRRC Submission |
039218-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1145 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
61147993-61153739 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 61150357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 214
(S214N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071526]
[ENSMUST00000224224]
|
AlphaFold |
Q9R014 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071526
AA Change: S214N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000071457 Gene: ENSMUSG00000055298 AA Change: S214N
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 |
possibly damaging
Transcript: ENSMUST00000224224
AA Change: S215N
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224306
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 88.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
AC159637.1 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
Agk |
T |
C |
6: 40,329,372 (GRCm39) |
|
probably benign |
Het |
Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
C1s1 |
C |
A |
6: 124,517,759 (GRCm39) |
D74Y |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,659,377 (GRCm39) |
S497P |
probably damaging |
Het |
Dnali1 |
T |
C |
4: 124,959,340 (GRCm39) |
S18G |
possibly damaging |
Het |
Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
Gm11143 |
T |
G |
6: 69,594,392 (GRCm39) |
V60G |
unknown |
Het |
Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
Inpp5k |
T |
C |
11: 75,524,285 (GRCm39) |
|
probably benign |
Het |
Krtdap |
A |
T |
7: 30,488,975 (GRCm39) |
|
probably benign |
Het |
Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
Loxl4 |
A |
T |
19: 42,596,994 (GRCm39) |
|
probably benign |
Het |
Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
Otud6b |
T |
A |
4: 14,812,532 (GRCm39) |
T272S |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,035,329 (GRCm39) |
Y44H |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,289,169 (GRCm39) |
R884H |
probably damaging |
Het |
Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
Vwa3a |
T |
C |
7: 120,392,566 (GRCm39) |
Y802H |
probably damaging |
Het |
Zc3h4 |
G |
A |
7: 16,150,838 (GRCm39) |
R60Q |
possibly damaging |
Het |
Zfp385a |
A |
T |
15: 103,226,370 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCATGGCATTGGGATGTCAC -3'
(R):5'- GCTGAGGCAACCTATCCATACGAAG -3'
Sequencing Primer
(F):5'- GCATTGGGATGTCACAATTCTTC -3'
(R):5'- CTTCTGAACTCCCATTAGGAGGTAG -3'
|
Posted On |
2014-03-28 |