Mutagenetix > Incidental Mutation

Incidental Mutation 'R0455:Cts3'

39973

Institutional Source

Beutler Lab

Gene Symbol

Cts3

Ensembl Gene

ENSMUSG00000074870

Gene Name

cathepsin 3

Synonyms

1600000I23Rik

MMRRC Submission

038655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0455 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61712444-61717941 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 61716024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054702] [ENSMUST00000223815] [ENSMUST00000224855] [ENSMUST00000225902]

AlphaFold

Q91ZD5

Predicted Effect

probably benign
Transcript: ENSMUST00000054702

SMART Domains

Protein: ENSMUSP00000058359
Gene: ENSMUSG00000074870

Domain	Start	End	E-Value	Type
Inhibitor_I29	29	88	2.48e-24	SMART
Pept_C1	114	331	1.33e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224050

Predicted Effect

probably benign
Transcript: ENSMUST00000224855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225515

Predicted Effect

probably benign
Transcript: ENSMUST00000225902

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,088,180 (GRCm39)	G342D	possibly damaging	Het
Acvr2b	C	T	9: 119,261,675 (GRCm39)	R399W	probably damaging	Het
Arb2a	T	A	13: 77,982,832 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,662,492 (GRCm39)	V256A	probably benign	Het
Atp2b4	A	T	1: 133,656,454 (GRCm39)	I732N	probably damaging	Het
C1qtnf9	A	C	14: 61,009,820 (GRCm39)	Q25H	probably damaging	Het
Ccdc6	T	A	10: 69,978,401 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Chdh	A	G	14: 29,756,603 (GRCm39)	Y343C	probably damaging	Het
Col5a2	T	C	1: 45,421,262 (GRCm39)		probably benign	Het
Cyfip1	T	A	7: 55,541,802 (GRCm39)	D362E	probably benign	Het
Dsg1b	T	A	18: 20,529,082 (GRCm39)	S273T	probably benign	Het
Dysf	A	T	6: 84,117,649 (GRCm39)	H1274L	probably benign	Het
Eva1c	T	C	16: 90,672,986 (GRCm39)	S187P	probably benign	Het
Fam13b	G	A	18: 34,578,581 (GRCm39)		probably benign	Het
Fbn2	C	T	18: 58,168,408 (GRCm39)	G2310S	probably damaging	Het
Fcna	T	C	2: 25,515,520 (GRCm39)	Y183C	probably damaging	Het
Fnta	T	C	8: 26,491,056 (GRCm39)	T263A	probably benign	Het
Gm94	T	C	18: 43,914,309 (GRCm39)	D83G	possibly damaging	Het
Gnal	C	T	18: 67,268,720 (GRCm39)		probably benign	Het
Grb7	T	G	11: 98,343,014 (GRCm39)	S244A	probably benign	Het
Grm3	T	C	5: 9,562,477 (GRCm39)	T458A	probably benign	Het
Hdac2	C	T	10: 36,867,832 (GRCm39)	R193C	probably damaging	Het
Hycc2	T	C	1: 58,573,638 (GRCm39)		probably benign	Het
Ighmbp2	T	C	19: 3,315,072 (GRCm39)	R783G	probably benign	Het
Inpp5j	G	T	11: 3,453,122 (GRCm39)	L43I	possibly damaging	Het
Itga11	A	T	9: 62,604,243 (GRCm39)	T44S	probably damaging	Het
Itsn1	C	T	16: 91,665,036 (GRCm39)		probably benign	Het
Kdm6b	G	T	11: 69,297,822 (GRCm39)	C233*	probably null	Het
Lamb3	T	C	1: 193,025,700 (GRCm39)	L1130P	probably damaging	Het
Lrch3	T	C	16: 32,807,250 (GRCm39)	F508L	probably damaging	Het
Lrrd1	T	A	5: 3,916,425 (GRCm39)	V814E	probably benign	Het
Megf10	C	T	18: 57,386,054 (GRCm39)	P356S	probably benign	Het
Myorg	G	A	4: 41,499,538 (GRCm39)	R31*	probably null	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nus1	T	A	10: 52,306,190 (GRCm39)	V42E	probably damaging	Het
Or11g24	A	G	14: 50,662,359 (GRCm39)	I128V	possibly damaging	Het
Or2a51	A	C	6: 43,179,006 (GRCm39)	M143L	probably benign	Het
Padi3	T	C	4: 140,523,024 (GRCm39)	N306S	probably damaging	Het
Pex13	T	C	11: 23,605,949 (GRCm39)	S94G	probably benign	Het
Ppm1h	G	T	10: 122,638,229 (GRCm39)	Q166H	probably benign	Het
Ptafr	A	T	4: 132,307,396 (GRCm39)	Y262F	probably benign	Het
Rabgap1	T	A	2: 37,377,132 (GRCm39)	D321E	probably damaging	Het
Samsn1	C	T	16: 75,742,113 (GRCm39)		noncoding transcript	Het
Scarb1	T	C	5: 125,366,745 (GRCm39)	N63D	probably damaging	Het
Serpinb7	T	C	1: 107,379,340 (GRCm39)	I249T	possibly damaging	Het
Srpra	A	G	9: 35,126,277 (GRCm39)	K490R	probably benign	Het
Sycn	A	G	7: 28,240,398 (GRCm39)	N22D	probably benign	Het
Tarbp1	C	T	8: 127,167,612 (GRCm39)	A1067T	probably benign	Het
Tex14	A	G	11: 87,405,131 (GRCm39)	D681G	possibly damaging	Het
Usp34	C	T	11: 23,396,741 (GRCm39)		probably benign	Het
Vmn2r107	T	C	17: 20,595,085 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,187,528 (GRCm39)	M653K	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	possibly damaging	Het

Other mutations in Cts3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Cts3	APN	13	61,715,988 (GRCm39)	missense	probably damaging	0.98
IGL02662:Cts3	APN	13	61,715,871 (GRCm39)	missense	probably damaging	1.00
R1673:Cts3	UTSW	13	61,715,368 (GRCm39)	nonsense	probably null
R1793:Cts3	UTSW	13	61,715,967 (GRCm39)	missense	probably benign	0.00
R2403:Cts3	UTSW	13	61,712,806 (GRCm39)	missense	probably damaging	1.00
R3897:Cts3	UTSW	13	61,712,800 (GRCm39)	missense	probably benign	0.04
R4012:Cts3	UTSW	13	61,715,868 (GRCm39)	critical splice donor site	probably null
R4052:Cts3	UTSW	13	61,716,535 (GRCm39)	missense	probably benign	0.27
R4669:Cts3	UTSW	13	61,714,637 (GRCm39)	missense	probably benign	0.01
R4907:Cts3	UTSW	13	61,714,634 (GRCm39)	missense	probably benign	0.01
R5121:Cts3	UTSW	13	61,715,409 (GRCm39)	missense	probably benign	0.09
R5572:Cts3	UTSW	13	61,712,782 (GRCm39)	missense	probably damaging	0.99
R5774:Cts3	UTSW	13	61,716,184 (GRCm39)	missense	probably damaging	1.00
R5796:Cts3	UTSW	13	61,716,517 (GRCm39)	missense	probably damaging	1.00
R5797:Cts3	UTSW	13	61,716,206 (GRCm39)	missense	probably damaging	1.00
R6159:Cts3	UTSW	13	61,714,655 (GRCm39)	missense	probably damaging	1.00
R6226:Cts3	UTSW	13	61,716,535 (GRCm39)	missense	probably benign	0.27
R7346:Cts3	UTSW	13	61,715,434 (GRCm39)	missense	probably benign	0.00
R7642:Cts3	UTSW	13	61,716,589 (GRCm39)	missense	probably benign	0.02
R7948:Cts3	UTSW	13	61,713,863 (GRCm39)	missense	probably benign	0.04
R8060:Cts3	UTSW	13	61,714,580 (GRCm39)	missense	probably damaging	1.00
R9127:Cts3	UTSW	13	61,715,235 (GRCm39)	nonsense	probably null
R9145:Cts3	UTSW	13	61,712,800 (GRCm39)	missense	probably benign	0.04
R9218:Cts3	UTSW	13	61,716,583 (GRCm39)	missense	possibly damaging	0.74
R9707:Cts3	UTSW	13	61,714,649 (GRCm39)	missense	possibly damaging	0.95
R9717:Cts3	UTSW	13	61,712,799 (GRCm39)	missense	probably benign	0.00
Z1177:Cts3	UTSW	13	61,716,561 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCCGCACAGGAGTAACATAGCC -3'
(R):5'- TCAGAGGGAACCCAGAGAGTTTGC -3'

Sequencing Primer
(F):5'- AGGAGTAACATAGCCTCTCTTTTTC -3'
(R):5'- CTCACATAAGCATAGGGTGGTC -3'

Posted On

2013-05-23