Incidental Mutation 'IGL03291:Ctsf'
ID415917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsf
Ensembl Gene ENSMUSG00000083282
Gene Namecathepsin F
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL03291
Quality Score
Status
Chromosome19
Chromosomal Location4855129-4860912 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4859634 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 378 (I378V)
Ref Sequence ENSEMBL: ENSMUSP00000112481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006626] [ENSMUST00000119694]
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 benign
Transcript: ENSMUST00000119694
AA Change: I378V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112481
Gene: ENSMUSG00000083282
AA Change: I378V

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T A 7: 144,621,675 E502V probably damaging Het
Atic T C 1: 71,570,922 V364A probably benign Het
Cfap44 A T 16: 44,407,311 H125L possibly damaging Het
Ctnna2 T A 6: 76,973,712 E227V probably damaging Het
Eya1 C T 1: 14,184,348 probably null Het
Fat2 C T 11: 55,262,595 R3597H probably benign Het
Gdpd5 T C 7: 99,460,121 probably benign Het
Glcci1 T A 6: 8,579,678 I293K probably damaging Het
Gm16503 T A 4: 147,541,078 Y10N unknown Het
Gm5930 A T 14: 44,331,448 I239N possibly damaging Het
Grm5 T C 7: 88,130,796 L1148P probably damaging Het
Kmt2e T A 5: 23,499,291 L1161I probably damaging Het
Megf9 C T 4: 70,488,150 V260I probably benign Het
Mme T A 3: 63,346,104 D456E probably benign Het
Mup8 T A 4: 60,221,950 E61V probably damaging Het
Olfml1 A G 7: 107,590,229 D167G probably damaging Het
Olfr615 T A 7: 103,560,912 M145K possibly damaging Het
Piezo2 T C 18: 63,021,308 K2467E probably damaging Het
Plscr1 T A 9: 92,266,870 F254L probably damaging Het
Prol1 A T 5: 88,328,520 K256N unknown Het
Rapgef4 A T 2: 72,195,703 L339F probably damaging Het
Slc27a2 T C 2: 126,564,750 I118T probably benign Het
Smim7 A T 8: 72,569,994 F19L possibly damaging Het
Svil T A 18: 5,056,150 L428* probably null Het
Tcof1 T C 18: 60,829,061 T699A possibly damaging Het
Thsd7b T A 1: 129,760,355 S668T possibly damaging Het
Tmprss7 T C 16: 45,680,748 D230G probably benign Het
Tyw1 A G 5: 130,299,993 D540G probably damaging Het
Zfp763 A G 17: 33,019,886 V95A probably damaging Het
Other mutations in Ctsf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Ctsf APN 19 4858078 missense probably damaging 1.00
IGL01891:Ctsf APN 19 4856567 missense probably damaging 0.99
R0587:Ctsf UTSW 19 4855738 missense probably benign 0.35
R0831:Ctsf UTSW 19 4859840 missense possibly damaging 0.92
R1808:Ctsf UTSW 19 4856534 missense probably benign 0.00
R5652:Ctsf UTSW 19 4858477 missense probably damaging 1.00
R5662:Ctsf UTSW 19 4856578 missense probably damaging 0.98
R6993:Ctsf UTSW 19 4858483 missense probably benign 0.45
Posted On2016-08-02