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)
|
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |