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) question?
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

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: T74A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224306
Meta Mutation Damage Score 0.0739 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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