Mutagenetix > Incidental Mutation

Incidental Mutation 'R4052:Cts3'

314216

Institutional Source

Beutler Lab

Gene Symbol

Cts3

Ensembl Gene

ENSMUSG00000074870

Gene Name

cathepsin 3

Synonyms

1600000I23Rik

Accession Numbers

Essential gene?

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

Stock #

R4052 ()

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61712444-61717941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61716535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 34 (I34L)

Ref Sequence

ENSEMBL: ENSMUSP00000153683 (fasta)

Gene Model

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

AlphaFold

Q91ZD5

Predicted Effect

probably benign
Transcript: ENSMUST00000054702
AA Change: I34L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000058359
Gene: ENSMUSG00000074870
AA Change: I34L

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
AA Change: I34L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224050

Predicted Effect

probably benign
Transcript: ENSMUST00000224855
AA Change: I34L

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225515

Predicted Effect

probably benign
Transcript: ENSMUST00000225902

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	T	G	13: 119,624,738 (GRCm39)		probably benign	Het
Abca8b	G	A	11: 109,872,551 (GRCm39)	Q17*	probably null	Het
Abcc6	A	C	7: 45,635,987 (GRCm39)	L1020R	probably damaging	Het
Ace2	A	G	X: 162,952,581 (GRCm39)	I110V	probably benign	Het
Adam29	T	C	8: 56,325,317 (GRCm39)	Y379C	probably damaging	Het
Apol10a	A	T	15: 77,373,185 (GRCm39)	I274L	probably benign	Het
BC005537	T	A	13: 24,993,881 (GRCm39)	F119I	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cyp4a30b	A	G	4: 115,311,539 (GRCm39)	D69G	probably benign	Het
Dclk2	A	G	3: 86,738,129 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,929,889 (GRCm39)	V69A	possibly damaging	Het
Dis3	T	G	14: 99,332,752 (GRCm39)	I227L	probably benign	Het
Dock3	A	G	9: 106,850,995 (GRCm39)	S836P	probably damaging	Het
Efhc2	T	C	X: 17,096,789 (GRCm39)	N186S	possibly damaging	Het
Erap1	A	G	13: 74,823,459 (GRCm39)	N831S	probably benign	Het
Gimap3	T	A	6: 48,743,447 (GRCm39)	T3S	possibly damaging	Het
Gpr82	C	T	X: 13,531,898 (GRCm39)	P149S	probably damaging	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Hcn2	A	C	10: 79,569,521 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,882,268 (GRCm39)	L175P	probably damaging	Het
Il36b	T	C	2: 24,049,844 (GRCm39)	F152L	probably damaging	Het
Ino80b	G	C	6: 83,099,314 (GRCm39)	P178R	probably damaging	Het
Ldlrad3	C	T	2: 101,783,507 (GRCm39)	D240N	probably damaging	Het
Lef1	A	G	3: 130,988,338 (GRCm39)	N236D	probably damaging	Het
Macf1	A	G	4: 123,365,810 (GRCm39)	S1419P	probably benign	Het
Me2	T	C	18: 73,924,156 (GRCm39)	K352R	probably benign	Het
Ncapd3	T	A	9: 27,000,679 (GRCm39)		probably null	Het
Or52n3	A	G	7: 104,530,810 (GRCm39)	T299A	probably damaging	Het
P2rx7	T	C	5: 122,804,340 (GRCm39)	F293S	probably damaging	Het
Pabpc1l	T	C	2: 163,885,533 (GRCm39)	W429R	probably benign	Het
Parp14	T	C	16: 35,678,771 (GRCm39)	E399G	probably benign	Het
Pde6h	A	G	6: 136,936,266 (GRCm39)	D3G	unknown	Het
Pfkfb1	A	T	X: 149,405,184 (GRCm39)	D208V	possibly damaging	Het
Rasgrp3	T	C	17: 75,803,963 (GRCm39)	F89L	probably damaging	Het
Rif1	A	T	2: 51,988,483 (GRCm39)	K741*	probably null	Het
Rnase4	A	G	14: 51,342,462 (GRCm39)	K62R	probably benign	Het
Rnf207	C	A	4: 152,395,894 (GRCm39)	Q533H	probably benign	Het
Slc24a2	A	G	4: 87,145,442 (GRCm39)	V204A	probably damaging	Het
Spry2	A	T	14: 106,130,635 (GRCm39)	C184S	probably damaging	Het
Sulf2	T	C	2: 165,936,510 (GRCm39)	Y152C	probably damaging	Het
Thrap3	G	A	4: 126,070,012 (GRCm39)	A625V	probably damaging	Het
Tmem39a	T	A	16: 38,406,650 (GRCm39)	V329D	probably damaging	Het
Trav7-3	A	G	14: 53,681,203 (GRCm39)	T82A	probably benign	Het
Trim30b	T	A	7: 104,006,685 (GRCm39)	Q57L	possibly damaging	Het
Uggt1	A	G	1: 36,203,570 (GRCm39)	V1020A	probably damaging	Het
Zfp941	T	G	7: 140,392,340 (GRCm39)	K340Q	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
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'- TGCAGAAGCTGACCAAGAAC -3'
(R):5'- TTGTTTCTCAGGGAGGAGTAAGAAG -3'

Sequencing Primer
(F):5'- GCTGACCAAGAACTTGATGC -3'
(R):5'- AAGGCATTCTAGAAGTGTTGGTGC -3'

Posted On

2015-04-30