Incidental Mutation 'IGL02895:Ctsl'
ID363381
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 #IGL02895
Quality Score
Status
Chromosome13
Chromosomal Location64359337-64370890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 64366512 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 195 (A195T)
Ref Sequence ENSEMBL: ENSMUSP00000152497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021933] [ENSMUST00000220737] [ENSMUST00000222462] [ENSMUST00000222517] [ENSMUST00000223494]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021933
AA Change: A251T

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021933
Gene: ENSMUSG00000021477
AA Change: A251T

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 benign
Transcript: ENSMUST00000220737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221966
Predicted Effect probably damaging
Transcript: ENSMUST00000222462
AA Change: A195T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222517
AA Change: A251T

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect unknown
Transcript: ENSMUST00000222971
AA Change: A106T
Predicted Effect probably benign
Transcript: ENSMUST00000223494
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,232,107 probably benign Het
Ahctf1 C T 1: 179,793,811 E130K probably damaging Het
Atf7ip C A 6: 136,560,688 S306R probably damaging Het
Cpd A G 11: 76,785,203 V1208A probably benign Het
Dennd2c T C 3: 103,137,203 Y367H possibly damaging Het
Endod1 T A 9: 14,356,870 T440S probably benign Het
Gm12695 T C 4: 96,723,949 R526G probably damaging Het
Ighv1-39 T C 12: 114,914,682 T90A probably damaging Het
Kdm2a G A 19: 4,362,902 R19C probably damaging Het
Klra1 C T 6: 130,375,240 E180K possibly damaging Het
Odam A G 5: 87,885,864 Q21R probably benign Het
Olfr1205 A G 2: 88,831,642 Y175C probably damaging Het
Olfr145 G A 9: 37,897,982 V193I probably benign Het
Plk1 A G 7: 122,169,166 E504G possibly damaging Het
Rtl3 T C X: 106,839,544 I37M possibly damaging Het
Srebf2 A G 15: 82,147,467 E22G possibly damaging Het
Tmem74b A G 2: 151,706,391 S13G probably benign Het
Utp14b T C 1: 78,664,607 V74A possibly damaging Het
Znrf3 T C 11: 5,289,085 M93V probably damaging Het
Other mutations in Ctsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Ctsl APN 13 64368168 missense probably damaging 1.00
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 On2015-12-18