Mutagenetix > Incidental Mutation

Incidental Mutation 'R6109:Ctsw'

484755

Institutional Source

Beutler Lab

Gene Symbol

Ctsw

Ensembl Gene

ENSMUSG00000024910

Gene Name

cathepsin W

Synonyms

lymphopain

MMRRC Submission

044259-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6109 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5515071-5518535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5517147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 62 (S62G)

Ref Sequence

ENSEMBL: ENSMUSP00000025844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025844] [ENSMUST00000025847] [ENSMUST00000225141]

AlphaFold

P56203

Predicted Effect

probably benign
Transcript: ENSMUST00000025844
AA Change: S62G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025844
Gene: ENSMUSG00000024910
AA Change: S62G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Inhibitor_I29	40	97	2.21e-12	SMART
Pept_C1	126	357	1.58e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000025847

SMART Domains

Protein: ENSMUSP00000025847
Gene: ENSMUSG00000024911

Domain	Start	End	E-Value	Type
Pfam:FIBP	3	363	7.6e-171	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224944

Predicted Effect

probably benign
Transcript: ENSMUST00000225141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225917

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. The encoded preproprotein is proteolytically processed to generate a mature protein product. Expression of the encoded protein is upregulated following lymphocyte activation. Data from a human cell line suggests that the encoded enzyme may be important for viral entry into host cells. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mutants are fertile and healthy with normal cytotoxic lymphocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,303 (GRCm39)	Y950C	probably benign	Het
Acadm	A	G	3: 153,647,580 (GRCm39)	C20R	probably damaging	Het
Agtpbp1	G	T	13: 59,621,560 (GRCm39)	T984K	probably damaging	Het
Agxt2	C	T	15: 10,377,508 (GRCm39)	T136I	probably damaging	Het
Ankrd36	C	A	11: 5,578,941 (GRCm39)	N68K	probably damaging	Het
Ap3b2	T	A	7: 81,143,340 (GRCm39)	D10V	possibly damaging	Het
Apcdd1	A	T	18: 63,070,437 (GRCm39)	I235F	probably damaging	Het
Arhgap32	T	A	9: 32,171,407 (GRCm39)	W1396R	probably damaging	Het
Ascc3	A	G	10: 50,525,343 (GRCm39)	T513A	probably benign	Het
Aym1	C	T	5: 113,505,407 (GRCm39)	L9F	unknown	Het
Btnl10	C	A	11: 58,811,130 (GRCm39)	S151Y	probably damaging	Het
Camk2a	A	T	18: 61,076,306 (GRCm39)	K95*	probably null	Het
Ccdc40	T	C	11: 119,122,804 (GRCm39)	V202A	probably benign	Het
Cd200r3	T	A	16: 44,774,045 (GRCm39)	D152E	probably benign	Het
Cd2bp2	C	T	7: 126,793,987 (GRCm39)	D101N	probably damaging	Het
Cdh20	G	A	1: 104,921,739 (GRCm39)	D679N	probably damaging	Het
Clpx	C	T	9: 65,207,234 (GRCm39)	T44I	probably benign	Het
Cnnm4	T	G	1: 36,537,560 (GRCm39)	V541G	probably damaging	Het
Csmd1	T	C	8: 16,249,874 (GRCm39)	I1035V	possibly damaging	Het
Dlk2	T	A	17: 46,612,623 (GRCm39)	Y109N	probably damaging	Het
Ebf3	C	T	7: 136,807,955 (GRCm39)	V363M	probably damaging	Het
Farsb	A	G	1: 78,439,907 (GRCm39)		probably null	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxl3	C	A	5: 138,805,850 (GRCm39)	Q6K	probably damaging	Het
Gk5	C	A	9: 96,022,663 (GRCm39)	F166L	probably benign	Het
Gm11271	G	T	13: 21,565,309 (GRCm39)		noncoding transcript	Het
Gnat2	T	A	3: 108,007,451 (GRCm39)	Y290N	probably damaging	Het
H2-D1	A	T	17: 35,482,913 (GRCm39)	I148F	probably damaging	Het
Hdac2	A	G	10: 36,862,385 (GRCm39)	D83G	probably null	Het
Kdm5d	T	C	Y: 921,501 (GRCm39)	W500R	probably damaging	Het
Kel	A	T	6: 41,665,796 (GRCm39)	F489I	probably benign	Het
Kmo	C	A	1: 175,465,474 (GRCm39)	A76E	possibly damaging	Het
Krt32	T	C	11: 99,978,791 (GRCm39)	T88A	probably benign	Het
Lce3b	A	G	3: 92,840,994 (GRCm39)	T30A	unknown	Het
Lcn11	A	G	2: 25,669,308 (GRCm39)	H155R	possibly damaging	Het
Lmln	T	A	16: 32,889,481 (GRCm39)	I129N	possibly damaging	Het
Meiob	A	G	17: 25,031,993 (GRCm39)	K3E	probably benign	Het
Mitf	C	T	6: 97,973,429 (GRCm39)	T229M	probably damaging	Het
Ms4a20	T	C	19: 11,079,276 (GRCm39)	M131V	possibly damaging	Het
Muc16	T	C	9: 18,566,655 (GRCm39)	I1955V	unknown	Het
Naip1	A	G	13: 100,563,690 (GRCm39)	C492R	probably damaging	Het
Ncor2	C	T	5: 125,132,910 (GRCm39)	A26T	probably damaging	Het
Ngfr	T	G	11: 95,468,883 (GRCm39)	D165A	probably damaging	Het
Nobox	A	T	6: 43,282,103 (GRCm39)	S323R	probably damaging	Het
Or51ac3	T	C	7: 103,214,346 (GRCm39)	I47V	probably benign	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or8g23	A	G	9: 38,971,492 (GRCm39)	S157P	probably benign	Het
Pcdhb1	G	T	18: 37,398,306 (GRCm39)	V86F	possibly damaging	Het
Pdk1	A	G	2: 71,713,850 (GRCm39)	E165G	probably benign	Het
Peak1	C	T	9: 56,166,567 (GRCm39)	V454I	probably benign	Het
Rad9b	C	T	5: 122,482,360 (GRCm39)	G125D	probably damaging	Het
S100a16	T	C	3: 90,449,381 (GRCm39)	F19L	probably damaging	Het
Serpine2	T	C	1: 79,788,388 (GRCm39)	K190E	probably damaging	Het
Slf1	A	T	13: 77,274,799 (GRCm39)	M12K	probably damaging	Het
Tex101	T	C	7: 24,367,738 (GRCm39)	T205A	possibly damaging	Het
Tssk5	T	C	15: 76,257,916 (GRCm39)	E147G	probably damaging	Het
Ubr4	A	G	4: 139,144,675 (GRCm39)	T1495A	probably damaging	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Wdr70	A	T	15: 8,108,638 (GRCm39)		probably null	Het
Zfp811	T	A	17: 33,016,348 (GRCm39)		probably null	Het
Zscan10	T	A	17: 23,826,103 (GRCm39)	F88L	probably damaging	Het

Other mutations in Ctsw

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0845:Ctsw	UTSW	19	5,515,489 (GRCm39)	unclassified	probably benign
R1566:Ctsw	UTSW	19	5,515,445 (GRCm39)	missense	probably damaging	1.00
R2306:Ctsw	UTSW	19	5,517,010 (GRCm39)	splice site	probably null
R5023:Ctsw	UTSW	19	5,516,077 (GRCm39)	missense	probably damaging	1.00
R5076:Ctsw	UTSW	19	5,518,486 (GRCm39)	missense	probably benign
R5101:Ctsw	UTSW	19	5,515,703 (GRCm39)	missense	probably benign	0.20
R5112:Ctsw	UTSW	19	5,516,285 (GRCm39)	missense	probably damaging	0.98
R5188:Ctsw	UTSW	19	5,517,120 (GRCm39)	missense	probably damaging	1.00
R6436:Ctsw	UTSW	19	5,516,322 (GRCm39)	missense	possibly damaging	0.91
R6984:Ctsw	UTSW	19	5,516,646 (GRCm39)	missense	probably damaging	1.00
R6993:Ctsw	UTSW	19	5,515,865 (GRCm39)	missense	probably damaging	1.00
R7720:Ctsw	UTSW	19	5,517,072 (GRCm39)	missense	probably damaging	0.99
R9077:Ctsw	UTSW	19	5,516,431 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGGATTCAGGGAAGTCACC -3'
(R):5'- TAAAGGCTTTGCTCGGCTTC -3'

Sequencing Primer
(F):5'- AAGTCACCCAGGCTGGC -3'
(R):5'- GTGTCTCTGGGGAAAATTCTAATCTC -3'

Posted On

2017-08-16