Incidental Mutation 'R7331:Ctsj'
ID |
569251 |
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 |
045424-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7331 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
61147993-61153739 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61151645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 90
(S90L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071526]
[ENSMUST00000224224]
|
AlphaFold |
Q9R014 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071526
AA Change: S90L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000071457 Gene: ENSMUSG00000055298 AA Change: S90L
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 benign
Transcript: ENSMUST00000224224
AA Change: S91L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,331,728 (GRCm39) |
H47L |
possibly damaging |
Het |
Adgrf5 |
T |
C |
17: 43,748,484 (GRCm39) |
S438P |
probably damaging |
Het |
Atg16l2 |
C |
A |
7: 100,948,255 (GRCm39) |
K96N |
probably damaging |
Het |
Bglap2 |
A |
T |
3: 88,285,567 (GRCm39) |
M35K |
possibly damaging |
Het |
Btbd1 |
T |
A |
7: 81,465,720 (GRCm39) |
I209L |
probably damaging |
Het |
Cdc34 |
T |
C |
10: 79,521,146 (GRCm39) |
Y148H |
probably damaging |
Het |
Clcc1 |
A |
G |
3: 108,575,394 (GRCm39) |
D157G |
probably damaging |
Het |
Csmd2 |
A |
T |
4: 128,458,021 (GRCm39) |
|
probably null |
Het |
Cycs |
A |
G |
6: 50,542,532 (GRCm39) |
F37L |
probably benign |
Het |
Dync2li1 |
T |
A |
17: 84,955,086 (GRCm39) |
C248* |
probably null |
Het |
Dzank1 |
A |
T |
2: 144,332,190 (GRCm39) |
I382N |
probably benign |
Het |
Eif4a3l2 |
G |
A |
6: 116,529,130 (GRCm39) |
V336I |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,739,066 (GRCm39) |
I406V |
probably damaging |
Het |
Ero1b |
A |
G |
13: 12,615,015 (GRCm39) |
E282G |
probably damaging |
Het |
Fastkd5 |
A |
T |
2: 130,457,647 (GRCm39) |
N314K |
possibly damaging |
Het |
Fbh1 |
A |
T |
2: 11,768,797 (GRCm39) |
C300S |
probably benign |
Het |
Fchsd1 |
T |
C |
18: 38,101,823 (GRCm39) |
I49V |
possibly damaging |
Het |
Foxn1 |
A |
G |
11: 78,249,615 (GRCm39) |
Y637H |
probably damaging |
Het |
Gabarap |
A |
G |
11: 69,885,298 (GRCm39) |
E101G |
possibly damaging |
Het |
Gm7247 |
A |
G |
14: 51,601,792 (GRCm39) |
R22G |
probably damaging |
Het |
Gm7694 |
A |
T |
1: 170,129,180 (GRCm39) |
D116E |
possibly damaging |
Het |
Gm9508 |
A |
G |
10: 77,532,629 (GRCm39) |
C147R |
unknown |
Het |
Gpr152 |
A |
G |
19: 4,192,608 (GRCm39) |
M50V |
probably damaging |
Het |
Hunk |
T |
A |
16: 90,269,450 (GRCm39) |
N331K |
possibly damaging |
Het |
Il1r2 |
A |
G |
1: 40,162,409 (GRCm39) |
T351A |
probably benign |
Het |
Iqub |
A |
G |
6: 24,500,393 (GRCm39) |
V287A |
possibly damaging |
Het |
Lix1 |
A |
T |
17: 17,647,474 (GRCm39) |
T47S |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,553,622 (GRCm39) |
|
probably null |
Het |
Nup107 |
G |
A |
10: 117,606,103 (GRCm39) |
T500I |
probably damaging |
Het |
Phf21b |
G |
C |
15: 84,675,295 (GRCm39) |
R405G |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,241,101 (GRCm39) |
V709A |
probably damaging |
Het |
Psme3ip1 |
T |
A |
8: 95,309,564 (GRCm39) |
K143* |
probably null |
Het |
Rfc1 |
T |
C |
5: 65,468,387 (GRCm39) |
T109A |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,203,941 (GRCm39) |
V302A |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,760,517 (GRCm39) |
I1522T |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,594,010 (GRCm39) |
R2578L |
possibly damaging |
Het |
Scgb2b18 |
C |
T |
7: 32,872,681 (GRCm39) |
W41* |
probably null |
Het |
Sdccag8 |
C |
G |
1: 176,695,856 (GRCm39) |
Q387E |
possibly damaging |
Het |
Slc25a17 |
G |
A |
15: 81,213,346 (GRCm39) |
T119M |
probably damaging |
Het |
Slc45a4 |
G |
T |
15: 73,477,489 (GRCm39) |
Q16K |
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
Slc7a14 |
T |
C |
3: 31,311,880 (GRCm39) |
T47A |
probably benign |
Het |
Stard6 |
A |
G |
18: 70,616,553 (GRCm39) |
R71G |
probably damaging |
Het |
Tecr |
A |
G |
8: 84,298,564 (GRCm39) |
V321A |
probably damaging |
Het |
Ttc3 |
T |
A |
16: 94,195,218 (GRCm39) |
F290L |
probably benign |
Het |
Uqcc1 |
A |
G |
2: 155,753,731 (GRCm39) |
V48A |
probably benign |
Het |
V1rd19 |
T |
A |
7: 23,703,308 (GRCm39) |
I258N |
probably damaging |
Het |
Zar1 |
T |
A |
5: 72,737,655 (GRCm39) |
E249V |
possibly damaging |
Het |
Zfp101 |
T |
C |
17: 33,601,559 (GRCm39) |
T66A |
possibly damaging |
Het |
Zyx |
A |
G |
6: 42,328,593 (GRCm39) |
H230R |
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 |
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 |
|
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'- AACTGCACATCTCTCCATGC -3'
(R):5'- AAATTTGGTGACCAGGTGAGTG -3'
Sequencing Primer
(F):5'- GCACATCTCTCCATGCTCAATAC -3'
(R):5'- GTGACATGGATTGCTTCACAC -3'
|
Posted On |
2019-09-13 |