Mutagenetix > Incidental Mutation

Incidental Mutation 'R0908:Cts8'

83402

Institutional Source

Beutler Lab

Gene Symbol

Cts8

Ensembl Gene

ENSMUSG00000057446

Gene Name

cathepsin 8

Synonyms

CTS2, Epcs68, Epcs70

MMRRC Submission

039066-MU

Accession Numbers

Genbank: NM_019541; MGI: 1860275

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R0908 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

61246745-61255358 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61250916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 259 (Y259N)

Ref Sequence

ENSEMBL: ENSMUSP00000021891 (fasta)

Gene Model

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

AlphaFold

Q9JI81

Predicted Effect

probably damaging
Transcript: ENSMUST00000021891
AA Change: Y259N

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

SMART Domains

Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: Y259N

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: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,070,077	F1676I	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Atp8b3	T	C	10: 80,520,084	T1265A	probably benign	Het
Cep112	T	C	11: 108,664,497	V679A	possibly damaging	Het
Depdc7	A	G	2: 104,728,092	S195P	probably benign	Het
Dio2	A	T	12: 90,729,648	C189S	probably damaging	Het
Dmc1	A	G	15: 79,585,689	L189P	probably damaging	Het
Ehmt1	A	G	2: 24,804,888	Y1016H	probably damaging	Het
Gle1	T	C	2: 29,936,121	S71P	probably benign	Het
Gykl1	T	A	18: 52,695,369	*550K	probably null	Het
Klhl32	T	C	4: 24,682,092	D197G	probably damaging	Het
Krt78	G	A	15: 101,950,901	T287M	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mrpl1	A	T	5: 96,262,083	I272L	probably benign	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Olfr596	T	C	7: 103,310,573	V284A	possibly damaging	Het
Olfr937	T	C	9: 39,059,947	T240A	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 143,743,893		probably benign	Het
Pde5a	A	T	3: 122,779,001	I344L	probably benign	Het
Prl7c1	A	G	13: 27,773,734	I241T	possibly damaging	Het
Rp1	T	C	1: 4,344,655	E2078G	probably benign	Het
Scamp3	T	C	3: 89,179,439		probably null	Het
Sept8	A	G	11: 53,537,870	H414R	probably benign	Het
Spata5	T	A	3: 37,431,623		probably null	Het
Spef2	T	A	15: 9,614,195		probably null	Het
Txlnb	A	G	10: 17,799,177	N26S	probably damaging	Het
Vmn1r11	G	T	6: 57,138,064	V201L	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
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
R9803:Cts8	UTSW	13	61253322	missense	possibly damaging	0.50
RF008:Cts8	UTSW	13	61249288	missense	probably benign
X0062:Cts8	UTSW	13	61251008	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TCAGATGATTGGGAGATGCTCGGC -3'
(R):5'- GCAGACTTGGGGAAACTCTGCTAC -3'

Sequencing Primer
(F):5'- cagtttctcttgtttcgatgacc -3'
(R):5'- CTTGGGGAAACTCTGCTACAAAATG -3'

Posted On

2013-11-08