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) question?
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

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: S215N

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224306
Meta Mutation Damage Score 0.6467 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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