Mutagenetix > Incidental Mutation

Incidental Mutation 'R3772:Cts8'

273381

Institutional Source

Beutler Lab

Gene Symbol

Cts8

Ensembl Gene

ENSMUSG00000057446

Gene Name

cathepsin 8

Synonyms

Epcs68, CTS2, Epcs70

MMRRC Submission

040748-MU

Accession Numbers

Essential gene?

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

Stock #

R3772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61394561-61403162 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 61398715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153694 (fasta)

Gene Model

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

AlphaFold

Q9JI81

Predicted Effect

probably benign
Transcript: ENSMUST00000021891

SMART Domains

Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446

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: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (77/77)

Allele List at MGI

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

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,159,720 (GRCm39)		probably benign	Het
Adgrl1	A	G	8: 84,649,633 (GRCm39)	N97S	possibly damaging	Het
Aldh1a2	A	G	9: 71,160,202 (GRCm39)	D76G	probably damaging	Het
Aldh3a1	A	G	11: 61,105,431 (GRCm39)	E179G	possibly damaging	Het
Ap1g1	A	G	8: 110,564,418 (GRCm39)	D324G	probably damaging	Het
Arfgap2	A	G	2: 91,095,711 (GRCm39)	T12A	probably benign	Het
Aurka	A	G	2: 172,208,880 (GRCm39)	L85P	probably benign	Het
Birc6	T	A	17: 74,925,424 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,712,015 (GRCm39)	I403N	probably damaging	Het
Carns1	A	G	19: 4,220,915 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,932,359 (GRCm39)		probably benign	Het
Ccl2	C	T	11: 81,927,784 (GRCm39)	A76V	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Clstn2	A	G	9: 97,464,615 (GRCm39)	I180T	probably damaging	Het
Col24a1	T	C	3: 145,251,041 (GRCm39)	L1680P	probably damaging	Het
Col4a6	C	A	X: 139,955,196 (GRCm39)	G1416C	probably damaging	Het
Ctnna2	T	G	6: 76,950,752 (GRCm39)	N573T	probably damaging	Het
Cxcl17	A	G	7: 25,099,754 (GRCm39)		probably benign	Het
Defb18	T	C	1: 18,306,845 (GRCm39)	H37R	possibly damaging	Het
Dis3l2	T	C	1: 86,782,130 (GRCm39)	I229T	probably benign	Het
Dysf	G	A	6: 84,129,333 (GRCm39)	S1474N	possibly damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
F13a1	T	C	13: 37,082,108 (GRCm39)	K532R	probably benign	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Focad	A	C	4: 88,254,398 (GRCm39)		probably benign	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Frrs1	T	G	3: 116,672,036 (GRCm39)	S45A	possibly damaging	Het
Gm5422	T	A	10: 31,124,510 (GRCm39)		noncoding transcript	Het
Gm5866	T	C	5: 52,740,088 (GRCm39)		noncoding transcript	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Iglon5	A	T	7: 43,130,037 (GRCm39)	Y42*	probably null	Het
Khdrbs2	C	T	1: 32,283,157 (GRCm39)	Q90*	probably null	Het
Krt74	T	C	15: 101,670,630 (GRCm39)		noncoding transcript	Het
Lamc2	T	A	1: 152,999,997 (GRCm39)	M1121L	probably benign	Het
Lrig1	A	G	6: 94,582,798 (GRCm39)	L1073P	probably benign	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Man2c1	C	A	9: 57,047,661 (GRCm39)		probably benign	Het
Megf10	G	A	18: 57,416,934 (GRCm39)	D768N	probably benign	Het
Mycbp2	T	C	14: 103,371,224 (GRCm39)	N4108S	possibly damaging	Het
Nid1	A	G	13: 13,651,003 (GRCm39)		probably benign	Het
Nnt	A	G	13: 119,533,488 (GRCm39)	V59A	probably damaging	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Or1o4	T	C	17: 37,590,745 (GRCm39)	T189A	probably benign	Het
Pag1	G	A	3: 9,764,688 (GRCm39)	T155M	probably benign	Het
Pgam5	T	C	5: 110,413,459 (GRCm39)	H176R	probably damaging	Het
Pid1	T	C	1: 84,015,918 (GRCm39)	D149G	probably damaging	Het
Pkp3	G	A	7: 140,662,259 (GRCm39)	M1I	probably null	Het
Pld2	C	T	11: 70,434,949 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rab9b	T	A	X: 135,762,198 (GRCm39)	E67D	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf214	T	C	9: 45,777,932 (GRCm39)	M625V	possibly damaging	Het
Rwdd2a	A	C	9: 86,456,214 (GRCm39)	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Septin10	A	T	10: 59,012,709 (GRCm39)	M303K	probably damaging	Het
Sez6l2	A	G	7: 126,558,375 (GRCm39)	E339G	probably damaging	Het
Sf3b1	C	A	1: 55,039,150 (GRCm39)		probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
St18	A	T	1: 6,914,553 (GRCm39)	K799I	probably damaging	Het
Strada	C	T	11: 106,055,648 (GRCm39)	R333Q	probably damaging	Het
Stradb	A	T	1: 59,024,544 (GRCm39)	I64L	probably benign	Het
Sun1	A	G	5: 139,224,575 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tnk2	A	G	16: 32,498,640 (GRCm39)	D651G	probably damaging	Het
Trim43c	A	T	9: 88,729,810 (GRCm39)	D417V	probably damaging	Het
Tsc22d4	T	C	5: 137,757,495 (GRCm39)	L374P	possibly damaging	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ubr4	T	C	4: 139,180,011 (GRCm39)	V262A	possibly damaging	Het
Vmn2r60	A	T	7: 41,765,980 (GRCm39)	N29I	probably benign	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zbed4	C	T	15: 88,664,990 (GRCm39)	P353S	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zwilch	A	T	9: 64,063,316 (GRCm39)	F286I	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
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
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'- GCAGGGGTCTCAAAATCATTC -3'
(R):5'- TTAAAGGACGGACACTGCAG -3'

Sequencing Primer
(F):5'- ATACAGTTTCTCTTGTTTCGATGAC -3'
(R):5'- AGGTACCACCCTGAACGTTCTG -3'

Posted On

2015-03-25