Incidental Mutation 'IGL00324:Ctsl'
ID4289
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsl
Ensembl Gene ENSMUSG00000021477
Gene Namecathepsin L
Synonymsmajor excreted protein, 1190035F06Rik, Cat L, MEP
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00324
Quality Score
Status
Chromosome13
Chromosomal Location64359337-64370890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64368168 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 66 (Y66C)
Ref Sequence ENSEMBL: ENSMUSP00000152357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021933] [ENSMUST00000220737] [ENSMUST00000222462] [ENSMUST00000222517] [ENSMUST00000223494]
Predicted Effect probably damaging
Transcript: ENSMUST00000021933
AA Change: Y66C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021933
Gene: ENSMUSG00000021477
AA Change: Y66C

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Inhibitor_I29 29 88 1.98e-23 SMART
Pept_C1 114 332 1.67e-128 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220617
Predicted Effect probably damaging
Transcript: ENSMUST00000220737
AA Change: Y66C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222462
AA Change: Y66C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222517
AA Change: Y66C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222971
Predicted Effect probably damaging
Transcript: ENSMUST00000223494
AA Change: Y66C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the activation peptide and the cathepsin L1 heavy and light chains. The mature enzyme appears to be important in embryonic development through its processing of histone H3 and may play a role in disease progression in a model of kidney disease. Homozygous knockout mice for this gene exhibit hair loss, skin thickening, bone and heart defects, and enhanced susceptibility to bacterial infection. A pseudogene of this gene has been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for mutant alleles may show partial or complete hair-loss, skin defects, impaired T cell maturation, dilated cardiomyopathy, and high postnatal mortality. Mutant males for some alleles show both normal and atrophic seminiferous tubules and reduced sperm production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 T C 3: 121,776,993 probably benign Het
Cdk12 T A 11: 98,245,388 L1156Q unknown Het
Esd C T 14: 74,736,027 H21Y probably damaging Het
Fcrlb A C 1: 170,908,824 Y128D possibly damaging Het
Gm17027 A T 14: 42,159,310 N196K unknown Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Hpcal1 A G 12: 17,791,145 S175G probably benign Het
Itgam A T 7: 128,085,661 D401V probably damaging Het
Kank1 A G 19: 25,411,758 T932A probably benign Het
Lmod1 A G 1: 135,364,478 K357R probably benign Het
Muc4 A G 16: 32,778,812 I3271V probably benign Het
Nlrc5 A G 8: 94,521,479 K1692E probably damaging Het
Ocln A G 13: 100,535,013 W279R probably damaging Het
Olfr1181 T C 2: 88,423,786 I80V probably benign Het
Pcsk1 A G 13: 75,132,087 K677R probably benign Het
Pitrm1 T A 13: 6,568,666 L586Q probably damaging Het
Plppr3 G A 10: 79,866,669 S217L probably damaging Het
Pnldc1 A T 17: 12,905,758 probably benign Het
Pramef12 A G 4: 144,394,740 L238P possibly damaging Het
Pramef8 T A 4: 143,416,667 M1K probably null Het
Sema6b C T 17: 56,130,048 D204N probably damaging Het
Slc12a5 A G 2: 164,997,121 N1063S probably damaging Het
Tg T C 15: 66,693,424 V1205A probably benign Het
Tmem260 T C 14: 48,486,879 F205L probably benign Het
Trappc11 A T 8: 47,503,302 probably benign Het
Tsen34 A G 7: 3,700,531 *296W probably null Het
Ubr2 A G 17: 46,986,060 probably benign Het
Vmn2r23 T A 6: 123,729,725 W505R possibly damaging Het
Wbp11 A G 6: 136,821,670 probably benign Het
Znfx1 A T 2: 167,036,729 M1909K possibly damaging Het
Other mutations in Ctsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02895:Ctsl APN 13 64366512 missense probably damaging 0.97
mauvais UTSW 13 64364102 unclassified probably null
patch UTSW 13 64366623 nonsense probably null
R0518:Ctsl UTSW 13 64365218 missense possibly damaging 0.75
R0521:Ctsl UTSW 13 64365218 missense possibly damaging 0.75
R1546:Ctsl UTSW 13 64367879 missense probably damaging 1.00
R2096:Ctsl UTSW 13 64369026 critical splice donor site probably null
R5690:Ctsl UTSW 13 64365208 missense probably damaging 1.00
R5804:Ctsl UTSW 13 64366488 missense probably damaging 1.00
R6182:Ctsl UTSW 13 64367972 missense probably damaging 0.99
R6670:Ctsl UTSW 13 64364102 unclassified probably null
R6725:Ctsl UTSW 13 64366623 nonsense probably null
R6886:Ctsl UTSW 13 64365147 utr 3 prime probably null
R7502:Ctsl UTSW 13 64367068 missense probably damaging 1.00
Posted On2012-04-20