Incidental Mutation 'IGL01891:Ctsf'
ID 179241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsf
Ensembl Gene ENSMUSG00000083282
Gene Name cathepsin F
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL01891
Quality Score
Status
Chromosome 19
Chromosomal Location 4905158-4910946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4906595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 174 (R174Q)
Ref Sequence ENSEMBL: ENSMUSP00000112481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006626] [ENSMUST00000119694]
AlphaFold Q9R013
Predicted Effect probably benign
Transcript: ENSMUST00000006626
SMART Domains Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
CH 46 146 1.4e-23 SMART
CH 159 258 4.83e-27 SMART
low complexity region 261 272 N/A INTRINSIC
Pfam:Spectrin 287 397 5.5e-15 PFAM
SPEC 410 511 3.78e-23 SMART
SPEC 525 632 2.37e-6 SMART
Pfam:Spectrin 643 746 4.1e-15 PFAM
EFh 763 791 7.93e-1 SMART
EFh 799 827 5.96e-1 SMART
efhand_Ca_insen 830 896 2.29e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119694
AA Change: R174Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112481
Gene: ENSMUSG00000083282
AA Change: R174Q

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 55 77 N/A INTRINSIC
low complexity region 111 122 N/A INTRINSIC
low complexity region 145 156 N/A INTRINSIC
Inhibitor_I29 165 222 5.41e-16 SMART
Pept_C1 249 460 4.2e-93 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138811
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop neuronal lipofuscinosis and late-onset neurological disease characterized by reduced brain mass, progressive hind leg weakness, impaired motor coordination, tremors, severe gliosis, general wasting, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 T C 4: 49,383,395 (GRCm39) T53A probably benign Het
Aoc1 A G 6: 48,885,776 (GRCm39) probably benign Het
Ddo T C 10: 40,523,643 (GRCm39) V211A possibly damaging Het
Ermp1 T C 19: 29,594,002 (GRCm39) I723V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-M3 T G 17: 37,583,608 (GRCm39) I322S probably benign Het
Npc1l1 T C 11: 6,164,280 (GRCm39) T1206A probably damaging Het
Pold3 A T 7: 99,737,352 (GRCm39) probably benign Het
Ripor3 T C 2: 167,825,071 (GRCm39) T813A possibly damaging Het
Suco T C 1: 161,666,371 (GRCm39) N510D probably damaging Het
Tas2r120 A G 6: 132,634,807 (GRCm39) *296W probably null Het
Tox2 G T 2: 163,164,903 (GRCm39) K514N possibly damaging Het
Ubr4 G A 4: 139,163,571 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb1 T A 12: 76,432,435 (GRCm39) F140L probably damaging Het
Zc3h14 T C 12: 98,725,206 (GRCm39) probably benign Het
Other mutations in Ctsf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Ctsf APN 19 4,908,106 (GRCm39) missense probably damaging 1.00
IGL03291:Ctsf APN 19 4,909,662 (GRCm39) missense probably benign 0.00
R0587:Ctsf UTSW 19 4,905,766 (GRCm39) missense probably benign 0.35
R0831:Ctsf UTSW 19 4,909,868 (GRCm39) missense possibly damaging 0.92
R1808:Ctsf UTSW 19 4,906,562 (GRCm39) missense probably benign 0.00
R5652:Ctsf UTSW 19 4,908,505 (GRCm39) missense probably damaging 1.00
R5662:Ctsf UTSW 19 4,906,606 (GRCm39) missense probably damaging 0.98
R6993:Ctsf UTSW 19 4,908,511 (GRCm39) missense probably benign 0.45
R7702:Ctsf UTSW 19 4,906,567 (GRCm39) missense probably damaging 1.00
R7703:Ctsf UTSW 19 4,906,567 (GRCm39) missense probably damaging 1.00
R7704:Ctsf UTSW 19 4,906,567 (GRCm39) missense probably damaging 1.00
R7705:Ctsf UTSW 19 4,906,567 (GRCm39) missense probably damaging 1.00
R7962:Ctsf UTSW 19 4,906,567 (GRCm39) missense probably damaging 1.00
R7965:Ctsf UTSW 19 4,906,567 (GRCm39) missense probably damaging 1.00
R7966:Ctsf UTSW 19 4,906,567 (GRCm39) missense probably damaging 1.00
RF012:Ctsf UTSW 19 4,908,694 (GRCm39) missense probably benign 0.05
Z1176:Ctsf UTSW 19 4,906,334 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07