Mutagenetix > Incidental Mutation

Incidental Mutation 'R2829:Cts6'

254231

Institutional Source

Beutler Lab

Gene Symbol

Cts6

Ensembl Gene

ENSMUSG00000021441

Gene Name

cathepsin 6

Synonyms

1600022N02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61342961-61351206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61349311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 132 (R132S)

Ref Sequence

ENSEMBL: ENSMUSP00000021890 (fasta)

Gene Model

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

AlphaFold

Q9ET52

Predicted Effect

probably benign
Transcript: ENSMUST00000021890
AA Change: R132S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021890
Gene: ENSMUSG00000021441
AA Change: R132S

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	T	C	10: 88,948,801 (GRCm39)	E103G	possibly damaging	Het
Arid2	C	T	15: 96,267,335 (GRCm39)	P605L	possibly damaging	Het
Cylc2	A	G	4: 51,229,798 (GRCm39)	D380G	unknown	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gabra5	A	G	7: 57,140,583 (GRCm39)	V38A	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc8b1	T	C	5: 120,662,078 (GRCm39)	S256P	probably benign	Het
Uggt1	T	C	1: 36,201,375 (GRCm39)	T1122A	probably benign	Het
Vmn2r54	T	C	7: 12,349,617 (GRCm39)	D655G	possibly damaging	Het

Other mutations in Cts6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Cts6	APN	13	61,346,153 (GRCm39)	splice site	probably benign
IGL00774:Cts6	APN	13	61,346,153 (GRCm39)	splice site	probably benign
IGL02237:Cts6	APN	13	61,345,313 (GRCm39)	missense	probably benign	0.01
IGL03071:Cts6	APN	13	61,350,064 (GRCm39)	missense	probably damaging	0.97
IGL03224:Cts6	APN	13	61,349,547 (GRCm39)	missense	probably damaging	1.00
IGL03282:Cts6	APN	13	61,344,261 (GRCm39)	missense	possibly damaging	0.56
R0086:Cts6	UTSW	13	61,344,271 (GRCm39)	splice site	probably benign
R0201:Cts6	UTSW	13	61,349,313 (GRCm39)	nonsense	probably null
R0238:Cts6	UTSW	13	61,349,633 (GRCm39)	missense	probably damaging	1.00
R0238:Cts6	UTSW	13	61,349,633 (GRCm39)	missense	probably damaging	1.00
R0401:Cts6	UTSW	13	61,346,153 (GRCm39)	splice site	probably benign
R0676:Cts6	UTSW	13	61,345,298 (GRCm39)	splice site	probably benign
R1471:Cts6	UTSW	13	61,344,194 (GRCm39)	missense	probably benign	0.00
R1594:Cts6	UTSW	13	61,346,181 (GRCm39)	missense	probably damaging	1.00
R1864:Cts6	UTSW	13	61,349,393 (GRCm39)	missense	probably benign	0.26
R1865:Cts6	UTSW	13	61,349,393 (GRCm39)	missense	probably benign	0.26
R1902:Cts6	UTSW	13	61,349,329 (GRCm39)	nonsense	probably null
R2097:Cts6	UTSW	13	61,343,259 (GRCm39)	missense	probably damaging	1.00
R2235:Cts6	UTSW	13	61,343,247 (GRCm39)	missense	probably damaging	1.00
R2910:Cts6	UTSW	13	61,344,215 (GRCm39)	missense	probably damaging	1.00
R3757:Cts6	UTSW	13	61,349,972 (GRCm39)	nonsense	probably null
R4460:Cts6	UTSW	13	61,343,272 (GRCm39)	missense	probably benign	0.25
R4553:Cts6	UTSW	13	61,345,407 (GRCm39)	missense	probably damaging	1.00
R4623:Cts6	UTSW	13	61,349,974 (GRCm39)	missense	possibly damaging	0.57
R4793:Cts6	UTSW	13	61,349,626 (GRCm39)	missense	probably benign	0.00
R4809:Cts6	UTSW	13	61,349,995 (GRCm39)	missense	probably damaging	1.00
R4849:Cts6	UTSW	13	61,349,415 (GRCm39)	missense	probably null
R4866:Cts6	UTSW	13	61,350,090 (GRCm39)	critical splice acceptor site	probably null
R5055:Cts6	UTSW	13	61,344,164 (GRCm39)	missense	probably damaging	1.00
R5590:Cts6	UTSW	13	61,349,626 (GRCm39)	missense	probably benign	0.00
R6236:Cts6	UTSW	13	61,344,192 (GRCm39)	nonsense	probably null
R6428:Cts6	UTSW	13	61,344,237 (GRCm39)	missense	probably damaging	0.96
R6501:Cts6	UTSW	13	61,344,149 (GRCm39)	missense	probably damaging	1.00
R6508:Cts6	UTSW	13	61,344,221 (GRCm39)	missense	probably damaging	1.00
R6643:Cts6	UTSW	13	61,349,607 (GRCm39)	missense	probably damaging	0.96
R7397:Cts6	UTSW	13	61,350,014 (GRCm39)	missense	possibly damaging	0.94
R8283:Cts6	UTSW	13	61,349,457 (GRCm39)	missense	probably damaging	0.99
R8329:Cts6	UTSW	13	61,343,282 (GRCm39)	missense	probably damaging	1.00
R9009:Cts6	UTSW	13	61,344,261 (GRCm39)	missense	probably benign	0.04
R9438:Cts6	UTSW	13	61,350,069 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCCTCTCAGAAGCTAAAGGAAAGG -3'
(R):5'- CATGGAACTCTTCGCAATGTG -3'

Sequencing Primer
(F):5'- GGGGAATAGGGGAAAGGTACTCTATG -3'
(R):5'- ATGGAACTCTTCGCAATGTGTTCTTC -3'

Posted On

2014-12-04