Mutagenetix > Incidental Mutations

Incidental Mutation 'R2910:Cts6'

261205

Institutional Source

Beutler Lab

Gene Symbol

Cts6

Ensembl Gene

ENSMUSG00000021441

Gene Name

cathepsin 6

Synonyms

MMRRC Submission

040497-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61195132-61203410 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61196401 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 279 (V279A)

Ref Sequence

ENSEMBL: ENSMUSP00000021890 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021890
AA Change: V279A

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

SMART Domains

Protein: ENSMUSP00000021890
Gene: ENSMUSG00000021441
AA Change: V279A

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

Meta Mutation Damage Score

0.3829

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	G	A	11: 58,608,426	Q189*	probably null	Het
Abcf3	A	G	16: 20,560,232	T645A	probably damaging	Het
Acap1	A	G	11: 69,887,076		probably benign	Het
Adgrv1	G	A	13: 81,557,119	A1524V	possibly damaging	Het
Agbl1	A	G	7: 76,419,838	N121D	probably benign	Het
Ahnak	A	G	19: 9,011,654	D3434G	probably damaging	Het
Ankrd11	A	T	8: 122,908,798	D32E	probably damaging	Het
Asxl1	T	C	2: 153,401,039	S1170P	probably benign	Het
Atp8b3	G	A	10: 80,519,912	S1322F	possibly damaging	Het
Car15	G	A	16: 17,838,142		probably benign	Het
Cep104	T	A	4: 153,995,427		probably null	Het
Cnnm1	A	G	19: 43,469,647	I633V	possibly damaging	Het
Cog8	A	T	8: 107,054,221	V135E	probably benign	Het
Ddx1	C	T	12: 13,231,440		probably null	Het
Dock2	A	G	11: 34,232,910		probably benign	Het
Ero1lb	T	A	13: 12,600,289	D336E	probably damaging	Het
F11	C	G	8: 45,241,449	*625S	probably null	Het
F5	A	G	1: 164,204,820	M1779V	probably benign	Het
Fam227a	A	T	15: 79,636,734	D296E	possibly damaging	Het
Fbxo38	T	C	18: 62,519,807	D523G	probably benign	Het
Ggt1	G	A	10: 75,580,596	V275M	probably benign	Het
Gm379	A	C	X: 108,664,765	F43V	possibly damaging	Het
Grhl3	T	C	4: 135,559,146	I75V	probably benign	Het
Iqcm	A	T	8: 75,714,776	I226F	probably benign	Het
Kcnq1	T	G	7: 143,425,962	L615R	probably damaging	Het
Lcp2	G	A	11: 34,068,970		probably null	Het
Mbtps1	A	G	8: 119,546,037	I123T	possibly damaging	Het
Muc5ac	C	T	7: 141,807,641	T1563I	probably damaging	Het
Odf2l	A	C	3: 145,124,323	I19L	probably benign	Het
Olfr193	C	T	16: 59,110,181	R143H	probably benign	Het
Olfr993	T	A	2: 85,414,351	H176L	probably damaging	Het
Pigr	A	G	1: 130,849,533	D692G	probably damaging	Het
Pkd1l3	A	G	8: 109,667,636		probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452		probably benign	Het
Reep2	T	C	18: 34,845,690		probably null	Het
Rubcnl	C	T	14: 75,040,808	T344I	probably benign	Het
Sema6d	C	A	2: 124,665,037	P941T	probably damaging	Het
Shcbp1l	C	A	1: 153,428,626	L144I	probably damaging	Het
Slc7a1	T	C	5: 148,352,257	E60G	probably benign	Het
Snx2	C	T	18: 53,199,874	P207S	probably damaging	Het
Spata31	T	G	13: 64,920,436	S133A	probably benign	Het
Tac1	A	G	6: 7,559,097		probably null	Het
Tfpi	A	C	2: 84,444,093	V184G	possibly damaging	Het
Tmeff1	C	A	4: 48,614,961	N139K	possibly damaging	Het
Tnxb	A	G	17: 34,672,450	D589G	probably damaging	Het
Trpc1	C	A	9: 95,749,842	A16S	probably benign	Het
Vmn2r106	A	C	17: 20,278,684	L322V	probably damaging	Het
Vmn2r69	G	T	7: 85,406,710	A740D	probably damaging	Het

Other mutations in Cts6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Cts6	APN	13	61198339	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AATTACTGACTGCAACGGGC -3'
(R):5'- AGGTTCTAAGGACTCATCTCATGTC -3'

Sequencing Primer
(F):5'- GCAACGGGCAATTTTGTCATG -3'
(R):5'- GTTTTGTGAGGCTTTATACATGTTAG -3'

Posted On

2015-01-23