Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Cts8'

735332

Institutional Source

Beutler Lab

Gene Symbol

Cts8

Ensembl Gene

ENSMUSG00000057446

Gene Name

cathepsin 8

Synonyms

CTS2, Epcs68, Epcs70

MMRRC Submission

Accession Numbers

Genbank: NM_019541; MGI: 1860275

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61246745-61255358 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61253322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 130 (K130R)

Ref Sequence

ENSEMBL: ENSMUSP00000021891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021891] [ENSMUST00000223988]

AlphaFold

Q9JI81

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021891
AA Change: K130R

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: K130R

Domain	Start	End	E-Value	Type
Inhibitor_I29	29	88	1.92e-21	SMART
Pept_C1	114	332	2.28e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223988

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	probably damaging	Het

Other mutations in Cts8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Cts8	APN	13	61251578	missense	probably damaging	1.00
IGL01343:Cts8	APN	13	61249196	splice site	probably benign
IGL01681:Cts8	APN	13	61253619	missense	probably benign	0.01
IGL02264:Cts8	APN	13	61250958	missense	probably damaging	1.00
IGL02686:Cts8	APN	13	61250970	missense	probably benign	0.09
IGL03196:Cts8	APN	13	61253458	missense	probably benign	0.05
R0123:Cts8	UTSW	13	61253577	missense	probably benign	0.01
R0630:Cts8	UTSW	13	61253442	missense	possibly damaging	0.71
R0856:Cts8	UTSW	13	61250916	missense	probably damaging	1.00
R0908:Cts8	UTSW	13	61250916	missense	probably damaging	1.00
R1932:Cts8	UTSW	13	61253615	missense	probably damaging	0.98
R2186:Cts8	UTSW	13	61251731	missense	probably damaging	1.00
R3103:Cts8	UTSW	13	61250958	missense	probably damaging	1.00
R3772:Cts8	UTSW	13	61250901	splice site	probably benign
R5127:Cts8	UTSW	13	61253335	missense	probably damaging	1.00
R5432:Cts8	UTSW	13	61251012	missense	probably benign	0.00
R6088:Cts8	UTSW	13	61253966	missense	probably benign	0.01
R6298:Cts8	UTSW	13	61249223	missense	possibly damaging	0.77
R6501:Cts8	UTSW	13	61250942	missense	probably damaging	1.00
R7177:Cts8	UTSW	13	61251691	missense	possibly damaging	0.48
R7571:Cts8	UTSW	13	61248167	missense	probably damaging	1.00
R8293:Cts8	UTSW	13	61254068	missense	probably benign	0.03
R8748:Cts8	UTSW	13	61249272	missense	probably damaging	1.00
R8917:Cts8	UTSW	13	61249068	intron	probably benign
R9083:Cts8	UTSW	13	61249222	missense	probably damaging	1.00
RF008:Cts8	UTSW	13	61249288	missense	probably benign
X0062:Cts8	UTSW	13	61251008	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CTCTGTGAGAAGGTGACCAG -3'
(R):5'- TGGTGAGTTTGACATAGACTGCATC -3'

Sequencing Primer
(F):5'- CTCTGTGAGAAGGTGACCAGAAAGG -3'
(R):5'- GCTGACTGATATTCCAGTCC -3'

Posted On

2022-11-14