Incidental Mutation 'R5325:Ctsj'
ID |
421911 |
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 |
042908-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5325 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
61147993-61153739 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61151839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 73
(T73A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071526]
[ENSMUST00000224224]
|
AlphaFold |
Q9R014 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071526
AA Change: T73A
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000071457 Gene: ENSMUSG00000055298 AA Change: T73A
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: T74A
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224306
|
Meta Mutation Damage Score |
0.0739 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
T |
A |
11: 105,896,079 (GRCm39) |
M675K |
probably benign |
Het |
Ccdc186 |
A |
T |
19: 56,801,613 (GRCm39) |
I168N |
probably damaging |
Het |
Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
Cep83 |
A |
G |
10: 94,573,768 (GRCm39) |
E219G |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,829,406 (GRCm39) |
T283S |
probably benign |
Het |
Ehbp1 |
T |
A |
11: 22,045,370 (GRCm39) |
D768V |
possibly damaging |
Het |
Evpl |
T |
C |
11: 116,112,191 (GRCm39) |
D1833G |
probably damaging |
Het |
Exoc1 |
A |
G |
5: 76,685,549 (GRCm39) |
N87S |
probably benign |
Het |
Fam98b |
A |
C |
2: 117,101,132 (GRCm39) |
I315L |
possibly damaging |
Het |
Fancg |
A |
G |
4: 43,006,564 (GRCm39) |
V330A |
probably damaging |
Het |
Fbxo30 |
G |
A |
10: 11,166,846 (GRCm39) |
V523I |
possibly damaging |
Het |
Fbxw27 |
A |
G |
9: 109,599,161 (GRCm39) |
C419R |
probably damaging |
Het |
Flt3 |
C |
A |
5: 147,312,459 (GRCm39) |
V161L |
probably benign |
Het |
Fndc7 |
G |
A |
3: 108,790,765 (GRCm39) |
T87I |
probably damaging |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm6457 |
A |
T |
18: 14,703,498 (GRCm39) |
|
noncoding transcript |
Het |
Gpr63 |
T |
C |
4: 25,007,294 (GRCm39) |
V6A |
probably benign |
Het |
Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
H2-M10.2 |
C |
A |
17: 36,596,471 (GRCm39) |
V125L |
probably benign |
Het |
Hrh4 |
C |
T |
18: 13,155,054 (GRCm39) |
Q198* |
probably null |
Het |
Lrch4 |
A |
G |
5: 137,636,168 (GRCm39) |
E373G |
probably damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Noa1 |
A |
C |
5: 77,452,042 (GRCm39) |
D547E |
probably damaging |
Het |
Nr2e1 |
G |
A |
10: 42,448,780 (GRCm39) |
R153W |
probably damaging |
Het |
Nudt9 |
A |
C |
5: 104,198,487 (GRCm39) |
M1L |
possibly damaging |
Het |
Odf2 |
T |
A |
2: 29,802,583 (GRCm39) |
D282E |
probably benign |
Het |
Olfr908 |
A |
T |
9: 38,427,454 (GRCm39) |
N42I |
probably damaging |
Het |
Or13a25 |
C |
A |
7: 140,247,705 (GRCm39) |
H168Q |
probably benign |
Het |
Or6ae1 |
T |
A |
7: 139,742,026 (GRCm39) |
Y279F |
probably damaging |
Het |
Osbpl5 |
C |
G |
7: 143,245,665 (GRCm39) |
A816P |
probably damaging |
Het |
Pan2 |
T |
C |
10: 128,153,503 (GRCm39) |
I924T |
possibly damaging |
Het |
Ppat |
A |
G |
5: 77,076,269 (GRCm39) |
|
probably benign |
Het |
Rad50 |
T |
G |
11: 53,583,690 (GRCm39) |
I364L |
probably benign |
Het |
Rnf7l |
A |
G |
10: 63,257,458 (GRCm39) |
S21P |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,770,673 (GRCm39) |
I484T |
possibly damaging |
Het |
Ryr2 |
A |
T |
13: 11,705,249 (GRCm39) |
M2839K |
probably damaging |
Het |
Sin3b |
A |
G |
8: 73,477,154 (GRCm39) |
D807G |
probably damaging |
Het |
Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
Smim17 |
G |
A |
7: 6,432,321 (GRCm39) |
V88M |
probably damaging |
Het |
Spib |
T |
C |
7: 44,177,505 (GRCm39) |
T229A |
probably damaging |
Het |
St14 |
A |
T |
9: 31,008,274 (GRCm39) |
|
probably null |
Het |
Syne4 |
A |
T |
7: 30,018,401 (GRCm39) |
Y381F |
probably damaging |
Het |
Sytl1 |
T |
C |
4: 132,988,382 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
A |
C |
6: 29,602,012 (GRCm39) |
|
probably benign |
Het |
Trim12a |
T |
A |
7: 103,953,413 (GRCm39) |
I233F |
probably damaging |
Het |
Tspan1 |
T |
A |
4: 116,021,536 (GRCm39) |
N82Y |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,201 (GRCm39) |
M300L |
probably benign |
Het |
Wdr17 |
G |
A |
8: 55,112,716 (GRCm39) |
A788V |
possibly damaging |
Het |
Wwtr1 |
A |
T |
3: 57,482,658 (GRCm39) |
V63E |
probably benign |
Het |
Ylpm1 |
A |
G |
12: 85,060,735 (GRCm39) |
|
probably benign |
Het |
Zfp956 |
T |
C |
6: 47,928,012 (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 |
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 |
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'- GTCATGGCAGCAGGAATTGG -3'
(R):5'- GTTCACCTGCAACAGTAACTAC -3'
Sequencing Primer
(F):5'- TGGCAGCAGGAATTGGAATATTGTC -3'
(R):5'- GTAACTACACATAATCAGCTTCTCC -3'
|
Posted On |
2016-08-04 |