Incidental Mutation 'IGL03291:Ctsf'
| ID |
415917 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctsf
|
| Ensembl Gene |
ENSMUSG00000083282 |
| Gene Name |
cathepsin F |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL03291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4905158-4910946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4909662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q9R013 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006626
|
| SMART Domains |
Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
T |
A |
7: 144,175,412 (GRCm39) |
E502V |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,610,081 (GRCm39) |
V364A |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,227,674 (GRCm39) |
H125L |
possibly damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,950,695 (GRCm39) |
E227V |
probably damaging |
Het |
| Eya1 |
C |
T |
1: 14,254,572 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,153,421 (GRCm39) |
R3597H |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,109,328 (GRCm39) |
|
probably benign |
Het |
| Glcci1 |
T |
A |
6: 8,579,678 (GRCm39) |
I293K |
probably damaging |
Het |
| Gm16503 |
T |
A |
4: 147,625,535 (GRCm39) |
Y10N |
unknown |
Het |
| Gm5930 |
A |
T |
14: 44,568,905 (GRCm39) |
I239N |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,780,004 (GRCm39) |
L1148P |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,704,289 (GRCm39) |
L1161I |
probably damaging |
Het |
| Megf9 |
C |
T |
4: 70,406,387 (GRCm39) |
V260I |
probably benign |
Het |
| Mme |
T |
A |
3: 63,253,525 (GRCm39) |
D456E |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,221,950 (GRCm39) |
E61V |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,189,436 (GRCm39) |
D167G |
probably damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,210,119 (GRCm39) |
M145K |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,154,379 (GRCm39) |
K2467E |
probably damaging |
Het |
| Plscr1 |
T |
A |
9: 92,148,923 (GRCm39) |
F254L |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,379 (GRCm39) |
K256N |
unknown |
Het |
| Rapgef4 |
A |
T |
2: 72,026,047 (GRCm39) |
L339F |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,406,670 (GRCm39) |
I118T |
probably benign |
Het |
| Smim7 |
A |
T |
8: 73,323,838 (GRCm39) |
F19L |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,056,150 (GRCm39) |
L428* |
probably null |
Het |
| Tcof1 |
T |
C |
18: 60,962,133 (GRCm39) |
T699A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,688,092 (GRCm39) |
S668T |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,111 (GRCm39) |
D230G |
probably benign |
Het |
| Tyw1 |
A |
G |
5: 130,328,834 (GRCm39) |
D540G |
probably damaging |
Het |
| Zfp763 |
A |
G |
17: 33,238,860 (GRCm39) |
V95A |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation