Incidental Mutation 'IGL00324:Ctsl'
ID 4289
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsl
Ensembl Gene ENSMUSG00000021477
Gene Name cathepsin L
Synonyms MEP, 1190035F06Rik, Cat L, major excreted protein
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00324
Quality Score
Status
Chromosome 13
Chromosomal Location 64509704-64518586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64515982 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P06797
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: 121,570,642 (GRCm39) probably benign Het
Cdk12 T A 11: 98,136,214 (GRCm39) L1156Q unknown Het
Esd C T 14: 74,973,467 (GRCm39) H21Y probably damaging Het
Fcrlb A C 1: 170,736,393 (GRCm39) Y128D possibly damaging Het
Gm17027 A T 14: 41,981,267 (GRCm39) N196K unknown Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Hpcal1 A G 12: 17,841,146 (GRCm39) S175G probably benign Het
Itgam A T 7: 127,684,833 (GRCm39) D401V probably damaging Het
Kank1 A G 19: 25,389,122 (GRCm39) T932A probably benign Het
Lmod1 A G 1: 135,292,216 (GRCm39) K357R probably benign Het
Muc4 A G 16: 32,599,186 (GRCm39) I3271V probably benign Het
Nlrc5 A G 8: 95,248,107 (GRCm39) K1692E probably damaging Het
Ocln A G 13: 100,671,521 (GRCm39) W279R probably damaging Het
Or4p20 T C 2: 88,254,130 (GRCm39) I80V probably benign Het
Pcsk1 A G 13: 75,280,206 (GRCm39) K677R probably benign Het
Pitrm1 T A 13: 6,618,702 (GRCm39) L586Q probably damaging Het
Plppr3 G A 10: 79,702,503 (GRCm39) S217L probably damaging Het
Pnldc1 A T 17: 13,124,645 (GRCm39) probably benign Het
Pramel12 T A 4: 143,143,237 (GRCm39) M1K probably null Het
Pramel13 A G 4: 144,121,310 (GRCm39) L238P possibly damaging Het
Sema6b C T 17: 56,437,048 (GRCm39) D204N probably damaging Het
Slc12a5 A G 2: 164,839,041 (GRCm39) N1063S probably damaging Het
Tg T C 15: 66,565,273 (GRCm39) V1205A probably benign Het
Tmem260 T C 14: 48,724,336 (GRCm39) F205L probably benign Het
Trappc11 A T 8: 47,956,337 (GRCm39) probably benign Het
Tsen34 A G 7: 3,703,530 (GRCm39) *296W probably null Het
Ubr2 A G 17: 47,296,986 (GRCm39) probably benign Het
Vmn2r23 T A 6: 123,706,684 (GRCm39) W505R possibly damaging Het
Wbp11 A G 6: 136,798,668 (GRCm39) probably benign Het
Znfx1 A T 2: 166,878,649 (GRCm39) M1909K possibly damaging Het
Other mutations in Ctsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02895:Ctsl APN 13 64,514,326 (GRCm39) missense probably damaging 0.97
mauvais UTSW 13 64,511,916 (GRCm39) splice site probably null
patch UTSW 13 64,514,437 (GRCm39) nonsense probably null
G1patch:Ctsl UTSW 13 64,514,437 (GRCm39) nonsense probably null
R0518:Ctsl UTSW 13 64,513,032 (GRCm39) missense possibly damaging 0.75
R0521:Ctsl UTSW 13 64,513,032 (GRCm39) missense possibly damaging 0.75
R1546:Ctsl UTSW 13 64,515,693 (GRCm39) missense probably damaging 1.00
R2096:Ctsl UTSW 13 64,516,840 (GRCm39) critical splice donor site probably null
R5690:Ctsl UTSW 13 64,513,022 (GRCm39) missense probably damaging 1.00
R5804:Ctsl UTSW 13 64,514,302 (GRCm39) missense probably damaging 1.00
R6182:Ctsl UTSW 13 64,515,786 (GRCm39) missense probably damaging 0.99
R6670:Ctsl UTSW 13 64,511,916 (GRCm39) splice site probably null
R6725:Ctsl UTSW 13 64,514,437 (GRCm39) nonsense probably null
R6886:Ctsl UTSW 13 64,512,961 (GRCm39) splice site probably null
R7502:Ctsl UTSW 13 64,514,882 (GRCm39) missense probably damaging 1.00
R8828:Ctsl UTSW 13 64,514,314 (GRCm39) missense probably damaging 1.00
R8947:Ctsl UTSW 13 64,514,840 (GRCm39) missense probably damaging 1.00
R9354:Ctsl UTSW 13 64,516,850 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20