Mutagenetix > Incidental Mutations

Incidental Mutation 'R3103:Cts8'

262919

Institutional Source

Beutler Lab

Gene Symbol

Cts8

Ensembl Gene

ENSMUSG00000057446

Gene Name

cathepsin 8

Synonyms

CTS2, Epcs68, Epcs70

MMRRC Submission

040577-MU

Accession Numbers

Genbank: NM_019541; MGI: 1860275

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R3103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61246745-61255358 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61250958 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 245 (I245F)

Ref Sequence

ENSEMBL: ENSMUSP00000021891 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021891
AA Change: I245F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: I245F

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: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	A	G	7: 28,610,984		probably null	Het
Adap2	G	T	11: 80,157,033	C105F	probably damaging	Het
Bace2	T	C	16: 97,422,001		probably null	Het
Bpifc	A	G	10: 85,993,422	S94P	probably damaging	Het
C2cd3	A	G	7: 100,395,252	D347G	possibly damaging	Het
Cad	T	C	5: 31,061,674	V613A	possibly damaging	Het
Ccdc47	T	C	11: 106,202,841	H6R	probably benign	Het
Celsr3	A	G	9: 108,837,139	T1956A	probably benign	Het
Cep128	T	A	12: 91,019,344	D1006V	probably damaging	Het
Cog3	T	C	14: 75,747,201		probably null	Het
Csmd1	C	T	8: 15,917,405	V3153M	probably damaging	Het
Ctnna2	T	C	6: 77,653,144	E122G	possibly damaging	Het
Ddx27	T	A	2: 167,026,246	V333E	probably damaging	Het
Dmpk	A	G	7: 19,087,654	Y279C	probably damaging	Het
Dpagt1	A	G	9: 44,327,995	I111V	probably benign	Het
Dvl2	C	A	11: 70,008,869	P546T	possibly damaging	Het
Fat4	G	T	3: 38,891,940	A1661S	probably benign	Het
Gcm1	A	G	9: 78,064,452	N225S	probably damaging	Het
Gcnt2	A	T	13: 40,918,606	M242L	probably benign	Het
Golgb1	A	G	16: 36,894,849	R226G	probably damaging	Het
Gpr63	G	A	4: 25,007,353	V26I	probably benign	Het
Grik2	A	G	10: 49,240,772	L631P	probably damaging	Het
Hapln3	T	C	7: 79,121,736	D135G	probably benign	Het
Il31ra	C	A	13: 112,530,351	V398F	probably damaging	Het
Ipp	G	T	4: 116,524,249	R315L	possibly damaging	Het
Kcmf1	A	G	6: 72,861,847	L32P	probably damaging	Het
Klf17	T	A	4: 117,760,608	Q184L	possibly damaging	Het
Lrp2	C	T	2: 69,431,984	V4442I	probably benign	Het
Lrrfip2	A	T	9: 111,222,210	E293D	probably damaging	Het
Oit3	A	G	10: 59,438,891	I29T	probably damaging	Het
Olfr403	G	A	11: 74,196,075	D191N	probably benign	Het
Olfr50	T	C	2: 36,793,562	C109R	possibly damaging	Het
Olfr555	T	C	7: 102,659,481	V220A	probably benign	Het
Plb1	T	A	5: 32,328,029	M842K	possibly damaging	Het
Ppt1	T	C	4: 122,836,307	C18R	probably benign	Het
Pstpip2	T	C	18: 77,871,777	Y191H	probably damaging	Het
Ryr1	C	T	7: 29,074,948	V2361I	probably damaging	Het
Serpinb11	A	G	1: 107,377,608	N238S	probably benign	Het
Skor2	A	T	18: 76,859,278	K232*	probably null	Het
Slc13a5	A	T	11: 72,257,388	W231R	probably damaging	Het
Svs5	A	T	2: 164,333,393	E55V	probably benign	Het
Tfcp2	A	T	15: 100,525,600	W142R	probably damaging	Het
Trpc2	A	T	7: 102,095,234	I738F	possibly damaging	Het
Vmn2r61	T	A	7: 42,266,643	S227T	possibly damaging	Het
Zfhx4	A	G	3: 5,399,326	T1540A	probably damaging	Het
Zfp616	A	G	11: 74,071,735	T74A	probably benign	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
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
RF008:Cts8	UTSW	13	61249288	missense	probably benign
X0062:Cts8	UTSW	13	61251008	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TTAGCAGGGGTCTCAAAATCATTC -3'
(R):5'- TGCCTCTTTGCAGGTGAATG -3'

Sequencing Primer
(F):5'- GTTTCGATGACCCCCAACC -3'
(R):5'- CCTCTTTGCAGGTGAATGGAAATAAC -3'

Posted On

2015-02-05