Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00770:Cts6'

277894

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cts6

Ensembl Gene

ENSMUSG00000021441

Gene Name

cathepsin 6

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00770

Quality Score

Status

Chromosome

Chromosomal Location

61195132-61203410 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 61198339 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021890]

Predicted Effect

probably benign
Transcript: ENSMUST00000021890

SMART Domains

Protein: ENSMUSP00000021890
Gene: ENSMUSG00000021441

Domain	Start	End	E-Value	Type
Inhibitor_I29	29	88	3.17e-22	SMART
Pept_C1	115	333	9.61e-111	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,388,539	A1397T	possibly damaging	Het
Aldob	A	G	4: 49,536,843	S349P	probably benign	Het
Cd2	A	T	3: 101,283,029		probably null	Het
Cmtm2a	A	G	8: 104,292,930	S43P	probably damaging	Het
E2f3	A	T	13: 29,918,704	D68E	probably damaging	Het
Ect2	G	A	3: 27,098,443	R869W	probably damaging	Het
Eml1	A	G	12: 108,514,515		probably null	Het
Fundc1	T	A	X: 17,558,013		probably null	Het
Gabrb1	G	T	5: 72,108,446		probably null	Het
Lrrk2	T	G	15: 91,801,833		probably benign	Het
Map3k2	C	T	18: 32,228,239	P584L	probably benign	Het
Mindy2	T	C	9: 70,631,033	D340G	probably benign	Het
Nav3	T	C	10: 109,816,263	D877G	probably damaging	Het
Nol9	T	C	4: 152,052,015	S515P	probably benign	Het
Osgepl1	A	G	1: 53,320,246	I305V	probably benign	Het
Pign	A	G	1: 105,597,756	V449A	probably benign	Het
Rad54b	G	A	4: 11,593,765	R131K	probably benign	Het
Rgl3	A	T	9: 21,987,722		probably benign	Het
Scn2a	A	G	2: 65,735,853	D1407G	probably damaging	Het
Sf3b3	A	T	8: 110,817,638	I790N	probably damaging	Het
Srebf1	C	T	11: 60,205,139	R358Q	probably damaging	Het
Tmem18	A	G	12: 30,588,721	R133G	unknown	Het
Tnfrsf11b	T	G	15: 54,254,072	R262S	probably benign	Het
Tsc1	A	T	2: 28,665,011	H171L	probably damaging	Het
Ubr5	T	C	15: 38,006,541	T1157A	probably benign	Het
Wdcp	A	G	12: 4,855,303	E608G	probably damaging	Het

Other mutations in Cts6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00774:Cts6	APN	13	61198339	splice site	probably benign
IGL02237:Cts6	APN	13	61197499	missense	probably benign	0.01
IGL03071:Cts6	APN	13	61202250	missense	probably damaging	0.97
IGL03224:Cts6	APN	13	61201733	missense	probably damaging	1.00
IGL03282:Cts6	APN	13	61196447	missense	possibly damaging	0.56
R0086:Cts6	UTSW	13	61196457	splice site	probably benign
R0201:Cts6	UTSW	13	61201499	nonsense	probably null
R0238:Cts6	UTSW	13	61201819	missense	probably damaging	1.00
R0238:Cts6	UTSW	13	61201819	missense	probably damaging	1.00
R0401:Cts6	UTSW	13	61198339	splice site	probably benign
R0676:Cts6	UTSW	13	61197484	splice site	probably benign
R1471:Cts6	UTSW	13	61196380	missense	probably benign	0.00
R1594:Cts6	UTSW	13	61198367	missense	probably damaging	1.00
R1864:Cts6	UTSW	13	61201579	missense	probably benign	0.26
R1865:Cts6	UTSW	13	61201579	missense	probably benign	0.26
R1902:Cts6	UTSW	13	61201515	nonsense	probably null
R2097:Cts6	UTSW	13	61195445	missense	probably damaging	1.00
R2235:Cts6	UTSW	13	61195433	missense	probably damaging	1.00
R2829:Cts6	UTSW	13	61201497	missense	probably benign	0.01
R2910:Cts6	UTSW	13	61196401	missense	probably damaging	1.00
R3757:Cts6	UTSW	13	61202158	nonsense	probably null
R4460:Cts6	UTSW	13	61195458	missense	probably benign	0.25
R4553:Cts6	UTSW	13	61197593	missense	probably damaging	1.00
R4623:Cts6	UTSW	13	61202160	missense	possibly damaging	0.57
R4793:Cts6	UTSW	13	61201812	missense	probably benign	0.00
R4809:Cts6	UTSW	13	61202181	missense	probably damaging	1.00
R4849:Cts6	UTSW	13	61201601	missense	probably null
R4866:Cts6	UTSW	13	61202276	critical splice acceptor site	probably null
R5055:Cts6	UTSW	13	61196350	missense	probably damaging	1.00
R5590:Cts6	UTSW	13	61201812	missense	probably benign	0.00
R6236:Cts6	UTSW	13	61196378	nonsense	probably null
R6428:Cts6	UTSW	13	61196423	missense	probably damaging	0.96
R6501:Cts6	UTSW	13	61196335	missense	probably damaging	1.00
R6508:Cts6	UTSW	13	61196407	missense	probably damaging	1.00
R6643:Cts6	UTSW	13	61201793	missense	probably damaging	0.96
R7397:Cts6	UTSW	13	61202200	missense	possibly damaging	0.94
R8283:Cts6	UTSW	13	61201643	missense	probably damaging	0.99
R8329:Cts6	UTSW	13	61195468	missense	probably damaging	1.00

Posted On

2015-04-16