Mutagenetix > Incidental Mutation

Incidental Mutation 'R7966:Ctsf'

650400

Institutional Source

Beutler Lab

Gene Symbol

Ctsf

Ensembl Gene

ENSMUSG00000083282

Gene Name

cathepsin F

Synonyms

MMRRC Submission

046009-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R7966 (G1)

Quality Score

225.009

Status

Validated

Chromosome

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

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: F165V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112481
Gene: ENSMUSG00000083282
AA Change: F165V

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

0.8977

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (52/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,219,903 (GRCm39)	I817L	probably benign	Het
Adcy8	A	T	15: 64,573,939 (GRCm39)	W1055R	probably damaging	Het
Anks4b	A	G	7: 119,781,923 (GRCm39)	E318G	probably benign	Het
Arid3a	A	G	10: 79,767,889 (GRCm39)	T229A	probably benign	Het
Cckar	T	C	5: 53,858,580 (GRCm39)	K247E	possibly damaging	Het
Cfap52	A	T	11: 67,844,571 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,449 (GRCm39)	V538A	probably damaging	Het
Cped1	T	C	6: 22,059,953 (GRCm39)		probably null	Het
Cyp4v3	G	T	8: 45,785,954 (GRCm39)	A21E	probably benign	Het
Cytip	T	C	2: 58,037,944 (GRCm39)	E140G	probably damaging	Het
D130043K22Rik	A	C	13: 25,077,406 (GRCm39)	Q1013P	probably damaging	Het
Dpp6	A	G	5: 27,928,370 (GRCm39)	M763V	probably benign	Het
Eps15	T	A	4: 109,178,340 (GRCm39)	Y193N	probably damaging	Het
Ghrhr	T	C	6: 55,356,083 (GRCm39)	W59R	probably damaging	Het
Hdac4	A	G	1: 91,861,402 (GRCm39)	V1056A	possibly damaging	Het
Ipcef1	T	C	10: 6,850,668 (GRCm39)	T312A	probably damaging	Het
Itpr3	T	C	17: 27,331,002 (GRCm39)		probably null	Het
Kif6	A	G	17: 49,993,453 (GRCm39)	I182V	probably damaging	Het
Lcn3	A	G	2: 25,656,389 (GRCm39)	K90E	probably damaging	Het
Lig3	T	C	11: 82,681,342 (GRCm39)	S446P	probably damaging	Het
Ncln	G	A	10: 81,326,103 (GRCm39)	Q283*	probably null	Het
Nlrp4c	A	G	7: 6,069,322 (GRCm39)	T408A	probably damaging	Het
Oas1h	T	C	5: 121,009,962 (GRCm39)	F346L	probably damaging	Het
Olig2	AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC	AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC	16: 91,023,962 (GRCm39)		probably benign	Het
Or2ad1	A	T	13: 21,326,356 (GRCm39)	Y290*	probably null	Het
Or52b4	T	C	7: 102,184,623 (GRCm39)	I223T	probably damaging	Het
Or52s1b	A	T	7: 102,822,062 (GRCm39)	F261I	probably damaging	Het
Or8b55	A	G	9: 38,727,536 (GRCm39)	I246V	probably benign	Het
Pdcd1	A	T	1: 93,969,186 (GRCm39)	V44E	probably damaging	Het
Prdm13	A	T	4: 21,679,932 (GRCm39)	I186N	unknown	Het
Prpf4b	A	G	13: 35,085,428 (GRCm39)	D958G	probably damaging	Het
Prss59	A	T	6: 40,903,022 (GRCm39)	Y117N	probably benign	Het
Prune2	A	G	19: 17,156,223 (GRCm39)	N2792S	probably damaging	Het
Robo1	T	A	16: 72,780,760 (GRCm39)	I830N	possibly damaging	Het
Scaper	A	G	9: 55,669,611 (GRCm39)	V355A	probably damaging	Het
Scn3b	C	T	9: 40,193,846 (GRCm39)	A191V	probably benign	Het
Slc13a3	G	C	2: 165,272,155 (GRCm39)	S296C	probably benign	Het
Slc6a16	T	A	7: 44,917,477 (GRCm39)	I445N	possibly damaging	Het
Snrnp35	A	G	5: 124,628,565 (GRCm39)	Y126C	possibly damaging	Het
Spock2	A	G	10: 59,957,554 (GRCm39)	H98R	possibly damaging	Het
Sptssb	A	T	3: 69,728,286 (GRCm39)	Y50*	probably null	Het
Syne1	A	G	10: 5,066,965 (GRCm39)		probably null	Het
Tcf21	T	C	10: 22,695,706 (GRCm39)	T33A	probably benign	Het
Tecta	A	G	9: 42,306,258 (GRCm39)	F57L	probably damaging	Het
Tgs1	C	A	4: 3,586,215 (GRCm39)	P364H	probably benign	Het
Tmem242	A	G	17: 5,461,711 (GRCm39)	I119T	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn2r3	T	A	3: 64,186,235 (GRCm39)	N150I	probably damaging	Het
Vmn2r69	A	G	7: 85,060,762 (GRCm39)	I274T	possibly damaging	Het
Vwf	T	A	6: 125,616,304 (GRCm39)	L1206*	probably null	Het
Zfp157	T	A	5: 138,445,833 (GRCm39)	W63R	probably benign	Het
Zfp455	T	C	13: 67,347,302 (GRCm39)	Y10H	probably benign	Het
Zfp654	T	C	16: 64,605,239 (GRCm39)	T447A	probably damaging	Het
Zhx2	T	C	15: 57,685,063 (GRCm39)	I144T	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
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
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'- GCTCCTTGAGAGACACAGGATC -3'

Sequencing Primer
(F):5'- AGACAAAGGCCCCTTAATCCTCTTTC -3'
(R):5'- GACACAATCCAGGCATTTTGGTC -3'

Posted On

2020-09-15