Incidental Mutation 'R0587:Ctsf'
ID 55826
Institutional Source Beutler Lab
Gene Symbol Ctsf
Ensembl Gene ENSMUSG00000083282
Gene Name cathepsin F
Synonyms
MMRRC Submission 038777-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R0587 (G1)
Quality Score 185
Status Validated
Chromosome 19
Chromosomal Location 4905158-4910946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4905766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 87 (E87G)
Ref Sequence ENSEMBL: ENSMUSP00000112481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119694]
AlphaFold Q9R013
Predicted Effect probably benign
Transcript: ENSMUST00000119694
AA Change: E87G

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112481
Gene: ENSMUSG00000083282
AA Change: E87G

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
Meta Mutation Damage Score 0.0674 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 94% (34/36)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik T C 17: 36,203,855 (GRCm39) *212W probably null Het
Abca1 A G 4: 53,107,035 (GRCm39) Y231H probably benign Het
Abca5 T G 11: 110,202,203 (GRCm39) I401L probably benign Het
Ak2 A G 4: 128,896,171 (GRCm39) D112G probably damaging Het
Ankrd60 T A 2: 173,410,644 (GRCm39) D292V possibly damaging Het
Bank1 A G 3: 135,919,798 (GRCm39) probably benign Het
Bod1l G A 5: 41,978,980 (GRCm39) S778L probably benign Het
Cep76 C A 18: 67,756,245 (GRCm39) E529* probably null Het
Col24a1 T C 3: 144,998,906 (GRCm39) V13A possibly damaging Het
Ctsc T A 7: 87,946,437 (GRCm39) H154Q probably benign Het
Dmxl1 A T 18: 50,068,374 (GRCm39) T2716S probably benign Het
Espl1 A G 15: 102,212,382 (GRCm39) probably benign Het
Fcsk T A 8: 111,609,957 (GRCm39) Q1019L probably damaging Het
Hnrnpul1 T A 7: 25,444,657 (GRCm39) Y217F possibly damaging Het
Kmt2a A T 9: 44,758,831 (GRCm39) M1039K probably damaging Het
Large1 T C 8: 73,585,961 (GRCm39) N382D probably damaging Het
Madd A G 2: 90,977,230 (GRCm39) V1402A probably damaging Het
Mlh3 C T 12: 85,313,193 (GRCm39) V998M probably benign Het
Myo1c A G 11: 75,548,616 (GRCm39) Y71C probably damaging Het
Myt1l G A 12: 29,861,634 (GRCm39) D139N unknown Het
Nes C A 3: 87,885,876 (GRCm39) H1378Q probably benign Het
Or4c12 T C 2: 89,773,736 (GRCm39) H241R probably damaging Het
Otud6b T C 4: 14,815,661 (GRCm39) E243G probably benign Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Pcm1 G T 8: 41,739,088 (GRCm39) R912L probably damaging Het
Piezo2 A G 18: 63,155,497 (GRCm39) I2449T possibly damaging Het
Slc12a5 G A 2: 164,818,453 (GRCm39) M217I probably damaging Het
Sorl1 C A 9: 41,895,802 (GRCm39) W1784C probably damaging Het
Spatc1l A G 10: 76,400,011 (GRCm39) R178G possibly damaging Het
Strada A C 11: 106,061,790 (GRCm39) Y154D probably damaging Het
Syt6 A G 3: 103,532,887 (GRCm39) T424A probably damaging Het
Tbx1 C T 16: 18,402,243 (GRCm39) A245T possibly damaging Het
Tmem143 T C 7: 45,556,478 (GRCm39) L161P probably damaging Het
Other mutations in Ctsf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Ctsf APN 19 4,908,106 (GRCm39) missense probably damaging 1.00
IGL01891:Ctsf APN 19 4,906,595 (GRCm39) missense probably damaging 0.99
IGL03291:Ctsf APN 19 4,909,662 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- CGCGCTGGACATGTACAATTACGG -3'
(R):5'- AGCCACATGGAAGGCAGTCATAAC -3'

Sequencing Primer
(F):5'- ACAAGGGCCGTGCTAGG -3'
(R):5'- TGGAAGGCAGTCATAACTTGGTG -3'
Posted On 2013-07-11