Mutagenetix > Incidental Mutation

Incidental Mutation 'R5432:Cts8'

428113

Institutional Source

Beutler Lab

Gene Symbol

Cts8

Ensembl Gene

ENSMUSG00000057446

Gene Name

cathepsin 8

Synonyms

Epcs68, CTS2, Epcs70

MMRRC Submission

042997-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R5432 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61394561-61403162 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 61398826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 227 (F227V)

Ref Sequence

ENSEMBL: ENSMUSP00000021891 (fasta)

Gene Model

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

AlphaFold

Q9JI81

Predicted Effect

probably benign
Transcript: ENSMUST00000021891
AA Change: F227V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: F227V

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	G	A	9: 4,309,349 (GRCm39)	R30*	probably null	Het
Abca9	G	A	11: 110,032,380 (GRCm39)	R746W	possibly damaging	Het
Akap13	A	G	7: 75,252,578 (GRCm39)	E236G	probably damaging	Het
Asb4	A	C	6: 5,430,912 (GRCm39)	R382S	probably damaging	Het
Bahcc1	T	C	11: 120,178,814 (GRCm39)	S2458P	probably benign	Het
Bspry	T	C	4: 62,400,952 (GRCm39)	V148A	probably benign	Het
Cacna2d3	A	C	14: 28,665,512 (GRCm39)		probably null	Het
Cblb	T	A	16: 51,963,228 (GRCm39)	H390Q	probably damaging	Het
Cct8l1	T	C	5: 25,721,305 (GRCm39)	S7P	possibly damaging	Het
Cep295	T	C	9: 15,262,991 (GRCm39)	T191A	possibly damaging	Het
Elac1	T	C	18: 73,875,864 (GRCm39)	T56A	possibly damaging	Het
Fjx1	T	C	2: 102,280,864 (GRCm39)	N357S	possibly damaging	Het
Gm5414	T	C	15: 101,533,069 (GRCm39)	T453A	probably damaging	Het
Hcls1	G	A	16: 36,781,910 (GRCm39)	E340K	probably benign	Het
Hrc	C	A	7: 44,986,285 (GRCm39)	H479N	possibly damaging	Het
Ikzf4	A	G	10: 128,470,047 (GRCm39)	V491A	probably damaging	Het
Kalrn	A	G	16: 33,873,992 (GRCm39)	S138P	probably damaging	Het
Lama3	G	T	18: 12,705,123 (GRCm39)	D3062Y	probably damaging	Het
Lcor	A	G	19: 41,573,042 (GRCm39)	E599G	probably damaging	Het
Llgl1	T	C	11: 60,598,449 (GRCm39)	S442P	probably benign	Het
Macf1	T	A	4: 123,353,129 (GRCm39)	K1517*	probably null	Het
Myo9a	A	T	9: 59,772,953 (GRCm39)	Y995F	possibly damaging	Het
Nek3	A	C	8: 22,638,748 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,101,923 (GRCm39)	T531A	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2m12	A	T	16: 19,104,839 (GRCm39)	I218N	probably benign	Het
Pdia4	A	G	6: 47,775,400 (GRCm39)	V470A	possibly damaging	Het
Pinlyp	T	C	7: 24,241,892 (GRCm39)	D105G	probably damaging	Het
Pla2g6	A	G	15: 79,186,817 (GRCm39)		probably null	Het
Plpp7	A	G	2: 31,985,932 (GRCm39)	S37G	probably benign	Het
Prdm11	G	T	2: 92,806,158 (GRCm39)	P264Q	probably benign	Het
Rbl2	G	T	8: 91,828,911 (GRCm39)	R604L	probably benign	Het
Rfx7	A	G	9: 72,500,584 (GRCm39)	T115A	probably benign	Het
Samd4	A	G	14: 47,311,519 (GRCm39)	Q279R	probably benign	Het
Sdha	G	T	13: 74,475,068 (GRCm39)	A591D	probably damaging	Het
Secisbp2	AAGCAGCAGCAGCAGCAGCA	AAGCAGCAGCAGCAGCA	13: 51,828,002 (GRCm39)		probably benign	Het
Sephs2	G	A	7: 126,872,977 (GRCm39)	R39W	probably damaging	Het
Serpina3f	T	C	12: 104,186,577 (GRCm39)	I381T	possibly damaging	Het
Shd	A	T	17: 56,283,214 (GRCm39)	Q281L	probably damaging	Het
Sik3	A	G	9: 46,034,539 (GRCm39)	S98G	probably benign	Het
Srgap1	T	A	10: 121,705,728 (GRCm39)	N232I	probably damaging	Het
Thbs1	A	T	2: 117,945,164 (GRCm39)	N246Y	probably benign	Het
Usp9y	A	G	Y: 1,368,022 (GRCm39)		probably null	Het
Vwde	A	G	6: 13,190,591 (GRCm39)	M500T	probably damaging	Het
Wdr72	T	G	9: 74,183,228 (GRCm39)	S1053R	probably damaging	Het
Yif1b	T	C	7: 28,945,393 (GRCm39)	C192R	probably damaging	Het
Zc3h13	A	G	14: 75,568,687 (GRCm39)	S1327G	probably damaging	Het
Zfp1004	A	G	2: 150,033,901 (GRCm39)	N74S	possibly damaging	Het

Other mutations in Cts8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Cts8	APN	13	61,399,392 (GRCm39)	missense	probably damaging	1.00
IGL01343:Cts8	APN	13	61,397,010 (GRCm39)	splice site	probably benign
IGL01681:Cts8	APN	13	61,401,433 (GRCm39)	missense	probably benign	0.01
IGL02264:Cts8	APN	13	61,398,772 (GRCm39)	missense	probably damaging	1.00
IGL02686:Cts8	APN	13	61,398,784 (GRCm39)	missense	probably benign	0.09
IGL03196:Cts8	APN	13	61,401,272 (GRCm39)	missense	probably benign	0.05
R0123:Cts8	UTSW	13	61,401,391 (GRCm39)	missense	probably benign	0.01
R0630:Cts8	UTSW	13	61,401,256 (GRCm39)	missense	possibly damaging	0.71
R0856:Cts8	UTSW	13	61,398,730 (GRCm39)	missense	probably damaging	1.00
R0908:Cts8	UTSW	13	61,398,730 (GRCm39)	missense	probably damaging	1.00
R1932:Cts8	UTSW	13	61,401,429 (GRCm39)	missense	probably damaging	0.98
R2186:Cts8	UTSW	13	61,399,545 (GRCm39)	missense	probably damaging	1.00
R3103:Cts8	UTSW	13	61,398,772 (GRCm39)	missense	probably damaging	1.00
R3772:Cts8	UTSW	13	61,398,715 (GRCm39)	splice site	probably benign
R5127:Cts8	UTSW	13	61,401,149 (GRCm39)	missense	probably damaging	1.00
R6088:Cts8	UTSW	13	61,401,780 (GRCm39)	missense	probably benign	0.01
R6298:Cts8	UTSW	13	61,397,037 (GRCm39)	missense	possibly damaging	0.77
R6501:Cts8	UTSW	13	61,398,756 (GRCm39)	missense	probably damaging	1.00
R7177:Cts8	UTSW	13	61,399,505 (GRCm39)	missense	possibly damaging	0.48
R7571:Cts8	UTSW	13	61,395,981 (GRCm39)	missense	probably damaging	1.00
R8293:Cts8	UTSW	13	61,401,882 (GRCm39)	missense	probably benign	0.03
R8748:Cts8	UTSW	13	61,397,086 (GRCm39)	missense	probably damaging	1.00
R8917:Cts8	UTSW	13	61,396,882 (GRCm39)	intron	probably benign
R9083:Cts8	UTSW	13	61,397,036 (GRCm39)	missense	probably damaging	1.00
R9803:Cts8	UTSW	13	61,401,136 (GRCm39)	missense	possibly damaging	0.50
RF008:Cts8	UTSW	13	61,397,102 (GRCm39)	missense	probably benign
X0062:Cts8	UTSW	13	61,398,822 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CTTAGCAGGGGTCTCAAAATCATTC -3'
(R):5'- TAGCGCAGACTTGGGGAAAC -3'

Sequencing Primer
(F):5'- GCAGGATATCTGATATGCAACCTCTG -3'
(R):5'- ACTTGGGGAAACTCTGCTAC -3'

Posted On

2016-09-01