Incidental Mutation 'IGL00087:Ctsj'
ID1015
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 #IGL00087
Quality Score
Status
Chromosome13
Chromosomal Location61000179-61005959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 61001418 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 271 (S271R)
Ref Sequence ENSEMBL: ENSMUSP00000153389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071526] [ENSMUST00000224224]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071526
AA Change: S270R

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000071457
Gene: ENSMUSG00000055298
AA Change: S270R

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: S271R

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224306
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik C A 3: 121,679,633 probably benign Het
4930572O03Rik C A 5: 15,656,886 probably benign Het
Actr2 C A 11: 20,094,370 V79L probably benign Het
Ankrd36 A C 11: 5,620,131 Y533S probably benign Het
Btnl1 A T 17: 34,381,117 D198V probably damaging Het
Carmil2 T A 8: 105,691,406 I684N probably benign Het
Ccdc129 T A 6: 55,968,037 L581Q possibly damaging Het
Cdk17 T A 10: 93,226,771 V257D probably damaging Het
Cul9 T A 17: 46,525,709 Q1130L probably damaging Het
Daam1 G T 12: 71,942,219 S131I unknown Het
Dab1 G A 4: 104,678,810 V139M probably damaging Het
Dab1 A T 4: 104,678,753 I120F possibly damaging Het
Dnah2 A G 11: 69,492,672 V1142A possibly damaging Het
Dsg1b C T 18: 20,396,476 T326I probably damaging Het
Eif3k A C 7: 28,974,676 probably benign Het
Fam76b T C 9: 13,836,884 V3A possibly damaging Het
Fitm2 A G 2: 163,469,792 V167A probably benign Het
Gfap T A 11: 102,888,718 I418F possibly damaging Het
Gm8857 C T 5: 10,947,838 probably benign Het
Grm5 T C 7: 88,130,781 V1143A probably benign Het
Itpr2 A G 6: 146,397,012 I317T probably damaging Het
Kcnn2 A C 18: 45,592,236 R266S probably damaging Het
Kntc1 T A 5: 123,790,159 S1240T probably benign Het
Lmnb2 T C 10: 80,904,037 D490G possibly damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr401 A T 11: 74,121,879 I197F probably benign Het
Pax9 A G 12: 56,700,075 N232S probably benign Het
Pdcd6ip A G 9: 113,697,518 S108P possibly damaging Het
Pitpnc1 T C 11: 107,212,643 E210G possibly damaging Het
Prdm10 T C 9: 31,360,812 probably benign Het
Prl4a1 G A 13: 28,021,460 G136E probably damaging Het
Pstpip2 A G 18: 77,874,294 S255G probably benign Het
Rimbp3 T G 16: 17,209,743 S344A probably benign Het
Rint1 A G 5: 23,794,431 T73A probably benign Het
Rnf145 T C 11: 44,555,212 V291A possibly damaging Het
Rrm1 T A 7: 102,454,507 L221* probably null Het
Scn11a A G 9: 119,770,506 L1114P probably benign Het
Slc44a4 A G 17: 34,930,240 probably benign Het
Sorl1 A C 9: 41,974,094 N2070K probably damaging Het
Spaca7 C T 8: 12,580,941 probably benign Het
Srsf6 G T 2: 162,931,707 V13F probably damaging Het
Stab1 G T 14: 31,161,357 T336N probably benign Het
Strbp A G 2: 37,586,504 probably benign Het
Tbc1d4 A G 14: 101,608,112 F117L probably damaging Het
Tcf20 A G 15: 82,854,895 V785A probably damaging Het
Ticrr A G 7: 79,677,283 K580E probably damaging Het
Ubr4 A T 4: 139,465,322 E4225D possibly damaging Het
Uck1 A T 2: 32,259,669 V66D probably damaging Het
Vmn2r25 A G 6: 123,853,171 F7S probably benign Het
Zan C T 5: 137,387,820 probably null Het
Zfp819 T A 7: 43,611,979 probably benign Het
Other mutations in Ctsj
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2011-07-12