Incidental Mutation 'R7704:Ctsf'
ID 594212
Institutional Source Beutler Lab
Gene Symbol Ctsf
Ensembl Gene ENSMUSG00000083282
Gene Name cathepsin F
Synonyms
MMRRC Submission 045765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R7704 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 4905158-4910946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 4906567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 165 (F165V)
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: F165V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112481
Gene: ENSMUSG00000083282
AA Change: F165V

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 0.8977 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C A 7: 45,756,068 (GRCm39) W1458L probably damaging Het
Actn4 A T 7: 28,596,467 (GRCm39) I676N possibly damaging Het
Adamts10 T C 17: 33,770,126 (GRCm39) C1002R probably damaging Het
Agbl2 A C 2: 90,619,349 (GRCm39) N58T probably benign Het
Akap12 A T 10: 4,306,082 (GRCm39) D1069V probably damaging Het
Bltp2 C A 11: 78,159,570 (GRCm39) Q540K probably benign Het
Cfap65 T A 1: 74,967,527 (GRCm39) T184S probably benign Het
Chd1 T C 17: 15,987,737 (GRCm39) V1517A probably benign Het
CN725425 T A 15: 91,119,993 (GRCm39) V38D possibly damaging Het
Copg1 T A 6: 87,884,940 (GRCm39) L712Q probably benign Het
Ddx21 T C 10: 62,429,865 (GRCm39) Y293C probably damaging Het
Ddx46 C T 13: 55,821,832 (GRCm39) P839S probably benign Het
Dennd5a A G 7: 109,496,174 (GRCm39) V1164A possibly damaging Het
Dync1h1 T A 12: 110,632,200 (GRCm39) I4490N probably damaging Het
Ecm1 A C 3: 95,643,843 (GRCm39) Y236D probably damaging Het
Fat2 T C 11: 55,175,173 (GRCm39) T1847A probably benign Het
Galc T A 12: 98,175,102 (GRCm39) I567L probably benign Het
Gask1a C T 9: 121,780,151 (GRCm39) probably benign Het
H6pd T C 4: 150,067,360 (GRCm39) D350G probably benign Het
Ifi44 A G 3: 151,438,061 (GRCm39) Y409H probably benign Het
Kdm5a T G 6: 120,404,025 (GRCm39) F1210C probably damaging Het
Kdm5b C T 1: 134,515,669 (GRCm39) R98C probably damaging Het
Lipt1 T A 1: 37,915,043 (GRCm39) C366* probably null Het
Med13 G A 11: 86,236,744 (GRCm39) R138* probably null Het
Mterf1a A G 5: 3,941,845 (GRCm39) C8R probably benign Het
Ncapg2 A T 12: 116,382,897 (GRCm39) I243F probably damaging Het
Nop58 T C 1: 59,744,754 (GRCm39) S304P probably damaging Het
Nsd2 T C 5: 34,028,811 (GRCm39) *167Q probably null Het
Or1e30 T G 11: 73,678,616 (GRCm39) M284R probably damaging Het
Or2t35 T A 14: 14,407,867 (GRCm38) I213N probably damaging Het
Or52ab2 T A 7: 102,969,978 (GRCm39) M120K Het
Pramel29 C T 4: 143,935,091 (GRCm39) V217I possibly damaging Het
Prdm16 C T 4: 154,425,947 (GRCm39) G613R probably damaging Het
Prss46 T C 9: 110,679,065 (GRCm39) S89P probably damaging Het
Scin T C 12: 40,174,687 (GRCm39) N132S possibly damaging Het
Sec14l2 T C 11: 4,058,574 (GRCm39) K196R probably benign Het
Sox17 C A 1: 4,563,895 (GRCm39) probably benign Het
Tango6 A G 8: 107,425,621 (GRCm39) T394A probably benign Het
Tbc1d22a T A 15: 86,250,876 (GRCm39) I398N probably damaging Het
Tdpoz8 A G 3: 92,981,752 (GRCm39) I183V probably benign Het
Tmem8b T C 4: 43,689,461 (GRCm39) V285A probably damaging Het
Tnfrsf11b T A 15: 54,123,497 (GRCm39) T35S probably benign Het
Unc13c T A 9: 73,606,494 (GRCm39) I1289F probably benign Het
Ust C T 10: 8,205,987 (GRCm39) V99I probably benign Het
Vmn1r76 A G 7: 11,664,344 (GRCm39) V290A probably benign Het
Vmn2r50 T C 7: 9,781,665 (GRCm39) N360S probably benign Het
Vmn2r93 T C 17: 18,536,910 (GRCm39) I531T probably benign Het
Zap70 T C 1: 36,818,395 (GRCm39) probably null Het
Zfp932 A G 5: 110,157,630 (GRCm39) N443D probably benign 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
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
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'- GGAGAGACAAAGGCCCCTTAATC -3'
(R):5'- CTCCTTGAGAGACACAGGATCC -3'

Sequencing Primer
(F):5'- AGACAAAGGCCCCTTAATCCTCTTTC -3'
(R):5'- GACACAATCCAGGCATTTTGGTC -3'
Posted On 2019-11-12