Mutagenetix > Incidental Mutation

Incidental Mutation 'R8060:Cts3'

619669

Institutional Source

Beutler Lab

Gene Symbol

Cts3

Ensembl Gene

ENSMUSG00000074870

Gene Name

cathepsin 3

Synonyms

1600000I23Rik

MMRRC Submission

067496-MU

Accession Numbers

Essential gene?

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

Stock #

R8060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61712444-61717941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61714580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 242 (I242F)

Ref Sequence

ENSEMBL: ENSMUSP00000058359 (fasta)

Gene Model

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

AlphaFold

Q91ZD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000054702
AA Change: I242F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058359
Gene: ENSMUSG00000074870
AA Change: I242F

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 damaging
Transcript: ENSMUST00000223815
AA Change: I242F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000224855

Predicted Effect

probably benign
Transcript: ENSMUST00000225902

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Ano5	T	A	7: 51,237,531 (GRCm39)	V785E	probably benign	Het
Arhgef10	A	T	8: 15,004,446 (GRCm39)	R399S	probably damaging	Het
Arhgef40	A	G	14: 52,222,452 (GRCm39)		probably benign	Het
Armc3	G	T	2: 19,293,720 (GRCm39)	V504L	probably benign	Het
Asb10	T	A	5: 24,738,833 (GRCm39)	Y408F	probably benign	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Ccdc112	T	C	18: 46,426,529 (GRCm39)	I131M	probably damaging	Het
Chrnb3	T	A	8: 27,884,588 (GRCm39)	S442T	unknown	Het
Cit	G	A	5: 116,046,786 (GRCm39)	V400M	probably benign	Het
Copg1	T	C	6: 87,886,703 (GRCm39)	F772L	probably damaging	Het
Dock1	T	A	7: 134,770,132 (GRCm39)	D1797E	probably benign	Het
Dock1	T	A	7: 134,592,358 (GRCm39)		probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fam171a2	T	C	11: 102,329,436 (GRCm39)	K441R	possibly damaging	Het
H2-DMa	A	G	17: 34,356,259 (GRCm39)	E87G	probably benign	Het
Has2	T	A	15: 56,533,341 (GRCm39)	M225L	probably benign	Het
Hnrnpll	A	G	17: 80,341,534 (GRCm39)	S502P	probably damaging	Het
Hnrnpul1	G	T	7: 25,447,768 (GRCm39)	F185L	possibly damaging	Het
Hoxd11	G	A	2: 74,512,720 (GRCm39)		probably benign	Het
Larp1b	T	C	3: 40,939,837 (GRCm39)	V330A		Het
Mast4	T	C	13: 102,874,184 (GRCm39)	E1728G	possibly damaging	Het
Minpp1	T	A	19: 32,471,303 (GRCm39)	F284I	probably damaging	Het
Moxd1	A	G	10: 24,177,510 (GRCm39)	S609G	unknown	Het
Myh1	A	C	11: 67,106,077 (GRCm39)	M1231L	probably benign	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or1e27-ps1	T	C	11: 73,555,765 (GRCm39)	I110T	probably benign	Het
Or4c10	A	T	2: 89,760,693 (GRCm39)	N180I	probably benign	Het
Or4p7	A	G	2: 88,221,848 (GRCm39)	T86A	probably benign	Het
Or5p55	A	G	7: 107,566,612 (GRCm39)	T3A	probably benign	Het
Or5w20	A	T	2: 87,727,317 (GRCm39)	Y258F	probably damaging	Het
Or6c205	A	C	10: 129,086,915 (GRCm39)	T171P	possibly damaging	Het
Pln	A	T	10: 53,219,993 (GRCm39)	I12F	unknown	Het
Pomt2	G	A	12: 87,175,780 (GRCm39)	A388V	probably damaging	Het
Rbl2	T	A	8: 91,823,497 (GRCm39)		probably null	Het
Rnpep	T	C	1: 135,194,658 (GRCm39)	Y459C	probably damaging	Het
Slc23a4	T	C	6: 34,925,336 (GRCm39)	T498A	probably damaging	Het
Slc2a4	A	T	11: 69,835,836 (GRCm39)	L338M	possibly damaging	Het
Smco2	C	A	6: 146,768,283 (GRCm39)	Q221K	probably benign	Het
Snx20	G	T	8: 89,354,273 (GRCm39)	C152*	probably null	Het
Spata16	T	C	3: 26,894,869 (GRCm39)	L306P	probably damaging	Het
Spata20	A	T	11: 94,373,065 (GRCm39)	F520L	probably benign	Het
Sptbn1	A	T	11: 30,051,616 (GRCm39)	D2290E	probably damaging	Het
Tnfrsf11b	G	A	15: 54,117,505 (GRCm39)	T250I	probably benign	Het
Trim34a	G	T	7: 103,910,183 (GRCm39)	W328C	probably damaging	Het
Trim42	T	G	9: 97,245,532 (GRCm39)	M423L	probably damaging	Het
Trpm4	T	C	7: 44,954,875 (GRCm39)	K1055E	probably damaging	Het
Trpv5	T	A	6: 41,651,465 (GRCm39)	K238*	probably null	Het
Tshr	A	C	12: 91,505,134 (GRCm39)	I691L	probably benign	Het
Vmn2r-ps117	A	T	17: 19,058,124 (GRCm39)	H560L	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
R0455:Cts3	UTSW	13	61,716,024 (GRCm39)	unclassified	probably benign
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
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'- CATGCAAGAGGGAGGTCATATC -3'
(R):5'- AGACTTGCTCTACAGGACCCAG -3'

Sequencing Primer
(F):5'- TGGATGGCTATAAAATATGCAAAGCC -3'
(R):5'- CCCAGAGAGAAGTAACCTTGTGTTTG -3'

Posted On

2020-01-23