Incidental Mutation 'R1145:Ctsj'
ID102376
Institutional Source Beutler Lab
Gene Symbol Ctsj
Ensembl Gene ENSMUSG00000055298
Gene Namecathepsin J
SynonymsCatRLP, rat gene/Cathepsin L-related protein, Cat P, CATP, Ctsp
MMRRC Submission 039218-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1145 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location61000179-61005959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 61002543 bp
ZygosityHeterozygous
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]
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: 99.3%
  • 3x: 97.4%
  • 10x: 88.4%
  • 20x: 65.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,668,276 S1257P possibly damaging Het
Arhgef5 C A 6: 43,273,088 Q258K possibly damaging Het
Armc4 G T 18: 7,268,436 P361Q probably damaging Het
C1s1 C A 6: 124,540,800 D74Y probably damaging Het
Cpxm2 A G 7: 132,057,648 S497P probably damaging Het
Dnali1 T C 4: 125,065,547 S18G possibly damaging Het
Eif4g3 C T 4: 138,165,818 T959M probably damaging Het
Eml6 A G 11: 29,777,430 F1231L probably benign Het
Glp1r T C 17: 30,919,432 V160A probably benign Het
Gm10553 T C 1: 85,100,449 S96P probably benign Het
Gm9726 C T 12: 93,928,280 noncoding transcript Het
Hmcn1 A T 1: 150,679,607 probably null Het
Ldb2 A G 5: 44,532,674 L201P probably damaging Het
Otud6b T A 4: 14,812,532 T272S probably benign Het
Pnpla2 T C 7: 141,455,416 Y44H probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Sel1l3 C T 5: 53,131,827 R884H probably damaging Het
Slc43a2 T A 11: 75,566,989 Y363* probably null Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 55,016,461 probably benign Het
Tap2 C A 17: 34,215,940 D652E possibly damaging Het
Unc80 T C 1: 66,472,088 V85A probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,359,988 probably benign Het
Vwa3a T C 7: 120,793,343 Y802H probably damaging Het
Zc3h4 G A 7: 16,416,913 R60Q possibly damaging Het
Other mutations in Ctsj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Ctsj APN 13 61001418 missense possibly damaging 0.66
IGL02199:Ctsj APN 13 61002537 missense probably damaging 0.99
IGL02630:Ctsj APN 13 61001400 missense probably damaging 1.00
IGL02809:Ctsj APN 13 61003160 missense probably damaging 1.00
IGL03066:Ctsj APN 13 61004488 missense possibly damaging 0.49
IGL02799:Ctsj UTSW 13 61003820 missense probably benign 0.01
PIT4581001:Ctsj UTSW 13 61002556 missense probably damaging 1.00
R0094:Ctsj UTSW 13 61003705 critical splice donor site probably null
R0586:Ctsj UTSW 13 61003701 splice site probably benign
R0841:Ctsj UTSW 13 61002543 missense probably damaging 0.98
R1145:Ctsj UTSW 13 61002543 missense probably damaging 0.98
R1146:Ctsj UTSW 13 61002498 missense probably benign 0.07
R1146:Ctsj UTSW 13 61002498 missense probably benign 0.07
R2201:Ctsj UTSW 13 61002549 missense probably damaging 1.00
R2402:Ctsj UTSW 13 61000574 missense probably damaging 1.00
R5081:Ctsj UTSW 13 61003850 missense possibly damaging 0.94
R5325:Ctsj UTSW 13 61004025 missense possibly damaging 0.93
R5416:Ctsj UTSW 13 61004523 missense probably damaging 1.00
R5776:Ctsj UTSW 13 61003142 missense probably damaging 1.00
R6802:Ctsj UTSW 13 61003074 missense probably benign 0.25
R7072:Ctsj UTSW 13 61003083 nonsense probably null
R7331:Ctsj UTSW 13 61003831 missense probably benign
R7386:Ctsj UTSW 13 61000559 missense possibly damaging 0.74
R7853:Ctsj UTSW 13 61004070 missense probably damaging 1.00
R8164:Ctsj UTSW 13 61002520 missense probably benign 0.01
R8286:Ctsj UTSW 13 61000516 nonsense probably null
R8300:Ctsj UTSW 13 61002471 missense probably damaging 1.00
R8300:Ctsj UTSW 13 61002472 missense probably damaging 0.98
Z1176:Ctsj UTSW 13 61004115 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15