Incidental Mutation 'IGL02630:Ctsj'
ID301243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsj
Ensembl Gene ENSMUSG00000055298
Gene Namecathepsin J
SynonymsCatRLP, rat gene/Cathepsin L-related protein, Cat P, CATP, Ctsp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02630
Quality Score
Status
Chromosome13
Chromosomal Location61000179-61005959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 61001400 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 277 (A277T)
Ref Sequence ENSEMBL: ENSMUSP00000153389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071526] [ENSMUST00000224224]
Predicted Effect probably damaging
Transcript: ENSMUST00000071526
AA Change: A276T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071457
Gene: ENSMUSG00000055298
AA Change: A276T

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 probably damaging
Transcript: ENSMUST00000224224
AA Change: A277T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224306
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,012,077 V3575E probably damaging Het
Arfgef3 G A 10: 18,661,392 probably benign Het
Arhgap23 A G 11: 97,454,297 T631A probably benign Het
Chka T A 19: 3,892,112 H355Q possibly damaging Het
Ddx49 T C 8: 70,301,018 D67G probably damaging Het
Dennd4b T C 3: 90,272,977 S716P probably benign Het
Enpp5 G T 17: 44,082,875 D321Y probably damaging Het
Espl1 A G 15: 102,296,818 E17G probably benign Het
Fam161b G A 12: 84,353,914 P428L probably benign Het
Fbxw7 T C 3: 84,965,279 L256S probably damaging Het
Fgfr2 G T 7: 130,228,795 probably null Het
Foxred2 C T 15: 77,947,162 V484I probably benign Het
Gm4744 T A 6: 40,950,469 probably benign Het
Gm5724 T C 6: 141,723,110 Y532C probably damaging Het
Hipk2 T C 6: 38,818,521 N271S possibly damaging Het
Hist1h3a C T 13: 23,762,248 V36M probably benign Het
Ifna1 A G 4: 88,850,259 D58G possibly damaging Het
Igkv4-80 A T 6: 69,016,696 Y70* probably null Het
Ivns1abp G A 1: 151,359,635 R218H probably damaging Het
Kng1 A T 16: 23,079,845 probably benign Het
Lars T C 18: 42,257,169 D11G probably damaging Het
Lgals12 T C 19: 7,601,242 probably benign Het
Lpar4 T A X: 106,931,211 F334I probably benign Het
Muc5b G A 7: 141,863,231 G3305S probably benign Het
Nalcn T C 14: 123,317,879 D864G probably benign Het
Ndor1 T C 2: 25,255,287 E22G probably damaging Het
Nt5c2 T A 19: 46,924,310 M69L probably benign Het
Olfr1054 T C 2: 86,332,868 I163V probably benign Het
Olfr599 A C 7: 103,338,429 Y125S probably damaging Het
Pde12 A T 14: 26,666,397 H455Q probably damaging Het
Pdia6 A G 12: 17,274,421 H91R probably benign Het
Pdk4 A T 6: 5,491,671 I179K possibly damaging Het
Prl2c1 T C 13: 27,857,497 probably benign Het
Rasgrf2 C T 13: 92,131,392 E35K probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sash1 T A 10: 8,744,535 M454L probably benign Het
Secisbp2 C A 13: 51,678,906 T608K possibly damaging Het
Slmap A G 14: 26,422,431 V750A possibly damaging Het
Spaca6 T A 17: 17,831,089 L9Q probably damaging Het
Sycp1 T C 3: 102,878,764 probably benign Het
Sycp2 A T 2: 178,401,919 D131E probably damaging Het
Tc2n A T 12: 101,693,145 D176E probably damaging Het
Thoc7 T C 14: 13,953,154 I83V probably damaging Het
Trank1 T C 9: 111,373,075 V1590A possibly damaging Het
Tyrp1 T C 4: 80,840,757 V289A possibly damaging Het
Ube2dnl1 T A X: 114,905,786 C119* probably null Het
Vmn1r191 T A 13: 22,179,261 I108F possibly damaging Het
Zfp710 T A 7: 80,082,041 I322N probably 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
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
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
Posted On2015-04-16