Incidental Mutation 'IGL01631:Ctsf'
| ID |
93469 |
| 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 # |
IGL01631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4905158-4910946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4908106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 217
(L217P)
|
| 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 damaging
Transcript: ENSMUST00000119694
AA Change: L217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112481
Gene: ENSMUSG00000083282
AA Change: L217P
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apip |
C |
A |
2: 102,904,194 (GRCm39) |
|
probably benign |
Het |
| Arid4a |
C |
T |
12: 71,069,036 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,847,666 (GRCm39) |
E98D |
probably damaging |
Het |
| Cactin |
A |
G |
10: 81,159,058 (GRCm39) |
E303G |
probably benign |
Het |
| Ccdc181 |
T |
A |
1: 164,107,713 (GRCm39) |
I132K |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,608,472 (GRCm39) |
E756G |
probably damaging |
Het |
| Dmp1 |
G |
T |
5: 104,360,734 (GRCm39) |
R470L |
probably benign |
Het |
| Dnajc9 |
T |
C |
14: 20,438,176 (GRCm39) |
D142G |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,661 (GRCm39) |
R84S |
probably benign |
Het |
| Gm1110 |
A |
T |
9: 26,809,212 (GRCm39) |
|
probably null |
Het |
| Has2 |
A |
G |
15: 56,545,072 (GRCm39) |
S177P |
possibly damaging |
Het |
| Herc6 |
C |
T |
6: 57,581,092 (GRCm39) |
S264F |
probably benign |
Het |
| Il1rl2 |
T |
A |
1: 40,395,974 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
A |
G |
12: 84,855,920 (GRCm39) |
|
probably null |
Het |
| Map4 |
A |
G |
9: 109,892,201 (GRCm39) |
|
probably benign |
Het |
| Marchf4 |
T |
A |
1: 72,491,690 (GRCm39) |
K194* |
probably null |
Het |
| Megf10 |
A |
G |
18: 57,392,869 (GRCm39) |
D422G |
possibly damaging |
Het |
| Mfsd2a |
C |
A |
4: 122,843,100 (GRCm39) |
A394S |
probably benign |
Het |
| Mmp27 |
T |
C |
9: 7,573,289 (GRCm39) |
|
probably benign |
Het |
| Mvd |
A |
G |
8: 123,161,560 (GRCm39) |
Y370H |
possibly damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,129 (GRCm39) |
D189G |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,089,015 (GRCm39) |
H111R |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,088,220 (GRCm39) |
H859Y |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,479,399 (GRCm39) |
E1209D |
probably benign |
Het |
| Rhot1 |
C |
T |
11: 80,156,600 (GRCm39) |
T636M |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,163,342 (GRCm39) |
A19S |
possibly damaging |
Het |
| Rsbn1l |
G |
A |
5: 21,101,569 (GRCm39) |
S657L |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,101,570 (GRCm39) |
S657T |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,077,714 (GRCm39) |
T450A |
probably benign |
Het |
| Slc25a1 |
C |
T |
16: 17,743,930 (GRCm39) |
C262Y |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,104,361 (GRCm39) |
S288P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,744 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,724,495 (GRCm39) |
I228M |
probably damaging |
Het |
| Ssu2 |
T |
C |
6: 112,351,843 (GRCm39) |
Y294C |
probably damaging |
Het |
| Terb1 |
A |
G |
8: 105,199,496 (GRCm39) |
S483P |
probably damaging |
Het |
| Tsga13 |
T |
C |
6: 30,890,501 (GRCm39) |
K8E |
possibly damaging |
Het |
| Zbbx |
T |
G |
3: 74,985,984 (GRCm39) |
D351A |
probably damaging |
Het |
| Zfp454 |
G |
T |
11: 50,774,562 (GRCm39) |
A37D |
probably benign |
Het |
|
| Other mutations in Ctsf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation