Mutagenetix > Incidental Mutation

Incidental Mutation 'R6501:Cts8'

519745

Institutional Source

Beutler Lab

Gene Symbol

Cts8

Ensembl Gene

ENSMUSG00000057446

Gene Name

cathepsin 8

Synonyms

Epcs68, CTS2, Epcs70

MMRRC Submission

044633-MU

Accession Numbers

Essential gene?

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

Stock #

R6501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61394561-61403162 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61398756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 250 (D250V)

Ref Sequence

ENSEMBL: ENSMUSP00000021891 (fasta)

Gene Model

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

AlphaFold

Q9JI81

Predicted Effect

probably damaging
Transcript: ENSMUST00000021891
AA Change: D250V

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

SMART Domains

Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: D250V

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (48/48)

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
Abhd8	A	T	8: 71,914,165 (GRCm39)	C154*	probably null	Het
Ada	A	G	2: 163,570,108 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,886,276 (GRCm39)	V535I	probably damaging	Het
Bptf	T	C	11: 106,968,509 (GRCm39)	N1058S	probably null	Het
Cdadc1	C	T	14: 59,823,898 (GRCm39)	C198Y	probably benign	Het
Chrna7	G	A	7: 62,755,863 (GRCm39)	R228C	probably damaging	Het
Cts6	T	C	13: 61,344,149 (GRCm39)	N301S	probably damaging	Het
Cyp26a1	G	T	19: 37,687,518 (GRCm39)	R235L	possibly damaging	Het
Disc1	A	T	8: 125,944,844 (GRCm39)	M598L	probably benign	Het
Ear6	T	A	14: 52,091,681 (GRCm39)	V76D	possibly damaging	Het
Grifin	A	G	5: 140,549,036 (GRCm39)	*145R	probably null	Het
Htr2b	T	G	1: 86,038,363 (GRCm39)	E11A	probably damaging	Het
Krtap4-9	T	A	11: 99,676,255 (GRCm39)		probably benign	Het
Larp4b	A	C	13: 9,218,829 (GRCm39)	H522P	probably damaging	Het
Macf1	A	T	4: 123,363,425 (GRCm39)		probably null	Het
Mdfic	T	C	6: 15,770,516 (GRCm39)	L174P	possibly damaging	Het
Mmp17	A	G	5: 129,683,469 (GRCm39)	E535G	probably benign	Het
Nfxl1	A	T	5: 72,685,852 (GRCm39)		probably null	Het
Nynrin	A	T	14: 56,100,989 (GRCm39)	T260S	probably benign	Het
Or4k44	C	T	2: 111,368,124 (GRCm39)	G170D	probably damaging	Het
Or7e168	A	T	9: 19,720,271 (GRCm39)	Y219F	possibly damaging	Het
Or8b1c	A	T	9: 38,384,585 (GRCm39)	I181F	possibly damaging	Het
Pbx1	G	T	1: 168,037,103 (GRCm39)	D109E	probably damaging	Het
Pde4d	A	T	13: 109,253,476 (GRCm39)	H101L	probably benign	Het
Pdlim3	T	C	8: 46,361,639 (GRCm39)	I155T	possibly damaging	Het
Plekha5	T	A	6: 140,471,655 (GRCm39)	Y26*	probably null	Het
Prpf6	T	A	2: 181,263,713 (GRCm39)	L191*	probably null	Het
Rabl6	A	G	2: 25,492,459 (GRCm39)	V80A	possibly damaging	Het
Rp1	T	C	1: 4,381,503 (GRCm39)		probably benign	Het
Sec14l1	A	G	11: 117,047,676 (GRCm39)	S698G	probably damaging	Het
Skic2	A	G	17: 35,063,412 (GRCm39)	S622P	possibly damaging	Het
Slc19a1	G	A	10: 76,885,440 (GRCm39)	G447S	probably benign	Het
Slc2a6	A	T	2: 26,913,143 (GRCm39)	Y383*	probably null	Het
Slc9a9	C	A	9: 94,818,424 (GRCm39)	Q273K	probably benign	Het
Spint2	A	G	7: 28,963,131 (GRCm39)	Y56H	probably damaging	Het
Sspo	T	A	6: 48,472,146 (GRCm39)	M123K	possibly damaging	Het
Syne2	A	G	12: 76,074,621 (GRCm39)		probably null	Het
Trdn	A	C	10: 33,342,450 (GRCm39)	K619N	probably benign	Het
Ttll13	A	G	7: 79,899,924 (GRCm39)	T119A	possibly damaging	Het
Ttn	T	C	2: 76,615,990 (GRCm39)	Y8324C	probably damaging	Het
Ttn	T	C	2: 76,728,602 (GRCm39)		probably benign	Het
Vav2	A	G	2: 27,186,231 (GRCm39)	L208P	probably damaging	Het
Vmn1r179	A	G	7: 23,628,342 (GRCm39)	I178V	probably benign	Het
Vmn1r210	T	C	13: 23,011,705 (GRCm39)	M194V	possibly damaging	Het
Vmn2r103	A	T	17: 20,032,166 (GRCm39)	T647S	probably benign	Het
Wdr49	T	A	3: 75,246,765 (GRCm39)	H289L	probably benign	Het
Wnk2	T	G	13: 49,300,159 (GRCm39)	K184Q	probably damaging	Het
Zfp758	A	G	17: 22,590,978 (GRCm39)		probably benign	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
R5432:Cts8	UTSW	13	61,398,826 (GRCm39)	missense	probably benign	0.00
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
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'- GCAGGGGTCTCAAAATCATTC -3'
(R):5'- TGCCTCTTTGCAGGTGAATG -3'

Sequencing Primer
(F):5'- GTTTCGATGACCCCCAACC -3'
(R):5'- CCTCTTTGCAGGTGAATGGAAATAAC -3'

Posted On

2018-06-06