Mutagenetix > Incidental Mutations

Incidental Mutation 'R2186:Cts8'

237787

Institutional Source

Beutler Lab

Gene Symbol

Cts8

Ensembl Gene

ENSMUSG00000057446

Gene Name

cathepsin 8

Synonyms

CTS2, Epcs68, Epcs70

MMRRC Submission

040188-MU

Accession Numbers

Genbank: NM_019541; MGI: 1860275

Is this an essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R2186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61246745-61255358 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61251731 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 138 (C138F)

Ref Sequence

ENSEMBL: ENSMUSP00000021891 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021891
AA Change: C138F

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

SMART Domains

Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: C138F

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

Meta Mutation Damage Score

0.9671

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (51/51)

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
2310033P09Rik	A	G	11: 59,208,514	N29S	probably damaging	Het
4931409K22Rik	C	T	5: 24,554,526	G82E	probably damaging	Het
Ap1b1	T	C	11: 5,015,737	V92A	possibly damaging	Het
Asgr1	G	A	11: 70,056,249	R66Q	probably benign	Het
Atp8b4	T	A	2: 126,358,860	Q796L	probably damaging	Het
Camk4	A	C	18: 33,182,341	D307A	probably damaging	Het
Catsperb	T	A	12: 101,480,782	I223K	probably benign	Het
Ccdc80	A	G	16: 45,118,105	Y725C	probably damaging	Het
Cep164	T	A	9: 45,768,578	Q1119L	probably damaging	Het
Cep85l	G	A	10: 53,348,618	P292S	probably damaging	Het
Cfap53	A	G	18: 74,329,505		probably null	Het
Dis3l	C	A	9: 64,339,612	E54*	probably null	Het
Dnaja1	T	A	4: 40,732,853	D367E	probably benign	Het
Duoxa2	T	C	2: 122,299,174	I45T	probably damaging	Het
EU599041	C	T	7: 43,225,909		noncoding transcript	Het
Exoc5	T	C	14: 49,015,479	M561V	probably benign	Het
Fam184a	T	C	10: 53,638,194	I296V	probably damaging	Het
Fbxl18	C	T	5: 142,878,761	V686M	probably damaging	Het
Fryl	A	G	5: 73,064,975	S2088P	probably damaging	Het
Fus	G	A	7: 127,985,534		probably benign	Het
Gm38394	A	G	1: 133,658,079	S507P	probably damaging	Het
Gpr183	T	A	14: 121,954,315	I265L	probably benign	Het
Herc1	T	G	9: 66,439,901	L2013V	probably benign	Het
Ick	C	T	9: 78,131,487	T6M	probably benign	Het
Iqca	T	C	1: 90,081,344	K430R	probably benign	Het
Itpripl2	A	G	7: 118,491,277	C20R	probably damaging	Het
Kmt2c	C	A	5: 25,287,112	C852F	probably damaging	Het
Lamb1	A	T	12: 31,318,467	K1199*	probably null	Het
Lrba	A	G	3: 86,304,336	Y421C	probably damaging	Het
Lrig2	A	G	3: 104,468,598	L96P	probably benign	Het
Mcc	A	G	18: 44,812,078	F29S	possibly damaging	Het
Mlh1	T	C	9: 111,258,566		probably benign	Het
Mpp5	T	C	12: 78,819,371		probably benign	Het
Rbm33	A	G	5: 28,394,230	T867A	unknown	Het
Sdk1	T	A	5: 142,046,292	S1041T	probably benign	Het
Serpinb2	A	G	1: 107,523,964		probably null	Het
Serpinb9d	A	G	13: 33,203,047	N366S	possibly damaging	Het
Sf3b1	A	G	1: 55,007,633	S251P	probably benign	Het
Slc45a1	T	C	4: 150,638,251	Y392C	probably benign	Het
Tlr4	T	A	4: 66,839,983	C338S	possibly damaging	Het
Trio	A	G	15: 27,823,975		probably null	Het
Vnn1	A	T	10: 23,897,401	I109L	probably benign	Het
Wnk1	A	G	6: 119,948,567	V1312A	probably benign	Het
Zfp28	A	G	7: 6,394,498	H644R	probably damaging	Het
Zfp286	A	G	11: 62,780,461	V262A	probably damaging	Het
Zfp292	A	T	4: 34,807,962	M1694K	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
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
RF008:Cts8	UTSW	13	61249288	missense	probably benign
X0062:Cts8	UTSW	13	61251008	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GTTGACTCAGCCTCTAGACCTC -3'
(R):5'- GGCAGCCAGACAACATTATG -3'

Sequencing Primer
(F):5'- CTATTTTTCCACACGTACTTTAAAGC -3'
(R):5'- AGCCAGTCATTTGGTTCCATG -3'

Posted On

2014-10-02