Incidental Mutation 'IGL02199:Ctsj'
ID 284223
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) question?
Stock # IGL02199
Quality Score
Status
Chromosome 13
Chromosomal Location 61147993-61153739 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61150351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 216 (N216I)
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: N216I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071457
Gene: ENSMUSG00000055298
AA Change: N216I

DomainStartEndE-ValueType
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: N217I

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224306
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Aspg T C 12: 112,087,426 (GRCm39) V294A probably benign Het
Brms1l A G 12: 55,907,957 (GRCm39) probably benign Het
Celf5 T A 10: 81,318,318 (GRCm39) D41V possibly damaging Het
Clcn3 T A 8: 61,386,126 (GRCm39) K282* probably null Het
Clcn3 T A 8: 61,380,308 (GRCm39) T543S possibly damaging Het
Dusp28 A G 1: 92,835,280 (GRCm39) probably benign Het
Fbp1 A G 13: 63,015,193 (GRCm39) I262T probably damaging Het
Gata4 A G 14: 63,437,912 (GRCm39) V413A possibly damaging Het
Glb1 A G 9: 114,303,015 (GRCm39) N617S probably benign Het
Gm454 T A 5: 138,202,285 (GRCm39) noncoding transcript Het
Hesx1 A G 14: 26,723,481 (GRCm39) S104G probably benign Het
Igf2bp3 T C 6: 49,065,458 (GRCm39) N478S probably benign Het
Klrk1 T C 6: 129,598,207 (GRCm39) probably null Het
Lamb2 A G 9: 108,357,824 (GRCm39) T116A possibly damaging Het
Mbd2 T C 18: 70,726,371 (GRCm39) V270A probably damaging Het
Meis2 C T 2: 115,830,737 (GRCm39) V259I probably benign Het
Mtcl2 A T 2: 156,872,865 (GRCm39) L882Q probably damaging Het
Ngly1 T A 14: 16,290,844 (GRCm38) I442K probably damaging Het
Nrxn1 A G 17: 90,344,686 (GRCm39) L409P probably damaging Het
Otog G A 7: 45,926,775 (GRCm39) V1175I possibly damaging Het
Parp12 C T 6: 39,073,524 (GRCm39) A434T probably benign Het
Prrt3 G A 6: 113,471,770 (GRCm39) P801S probably damaging Het
Rps6ka2 G T 17: 7,521,852 (GRCm39) probably benign Het
Slc18a1 C A 8: 69,496,632 (GRCm39) V344L probably benign Het
Spg11 T A 2: 121,890,034 (GRCm39) T2103S probably damaging Het
Stoml2 A G 4: 43,029,366 (GRCm39) probably benign Het
Tshr T G 12: 91,505,057 (GRCm39) L73R probably damaging Het
Ylpm1 C T 12: 85,080,779 (GRCm39) Q786* probably null Het
Other mutations in Ctsj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Ctsj APN 13 61,149,232 (GRCm39) missense possibly damaging 0.66
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
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