|Institutional Source||Beutler Lab|
|Gene Name||cathepsin F|
|Is this an essential gene?||Probably non essential (E-score: 0.093)|
|Stock #||R0831 (G1)|
|Chromosomal Location||4855129-4860912 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 4859840 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 416 (Y416F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112481 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006626] [ENSMUST00000119694]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: Y416F
PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: Y416F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6006|
|Coding Region Coverage||
|Validation Efficiency||95% (82/86)|
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||
|Other mutations in Ctsf||
(F):5'- ACCTATCTCAGTTGCCATTAACGCC -3'
(R):5'- GTCCAGTTGCCTCTAGAACAACCC -3'
(F):5'- GTTGCCATTAACGCCTTCGG -3'
(R):5'- AGCCCCAGCTTCTCTGC -3'