Mutagenetix > Incidental Mutation

Incidental Mutation 'R5081:Ctsj'

387146

Institutional Source

Beutler Lab

Gene Symbol

Ctsj

Ensembl Gene

ENSMUSG00000055298

Gene Name

cathepsin J

Synonyms

CATP, CatRLP, Ctsp, Cat P, rat gene/Cathepsin L-related protein

MMRRC Submission

042670-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61147993-61153739 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61151664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 85 (S85C)

Ref Sequence

ENSEMBL: ENSMUSP00000153389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071526] [ENSMUST00000224224]

AlphaFold

Q9R014

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071526
AA Change: S84C

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000071457
Gene: ENSMUSG00000055298
AA Change: S84C

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Inhibitor_I29	29	87	1.18e-21	SMART
Pept_C1	113	331	3.3e-109	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224224
AA Change: S85C

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224306

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

93% (65/70)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,589,114 (GRCm39)		probably benign	Het
Aig1	A	G	10: 13,677,644 (GRCm39)	I116T	probably benign	Het
Alox12	A	T	11: 70,146,140 (GRCm39)		probably null	Het
Ap3s1	T	A	18: 46,887,497 (GRCm39)	D43E	probably benign	Het
Arhgap35	A	G	7: 16,299,059 (GRCm39)	M2T	possibly damaging	Het
Asah2	T	A	19: 31,991,708 (GRCm39)	E451V	probably benign	Het
Ash1l	T	G	3: 88,892,024 (GRCm39)	I1301S	probably damaging	Het
Ass1	G	A	2: 31,378,665 (GRCm39)		probably null	Het
Ccpg1	A	G	9: 72,906,360 (GRCm39)	T39A	possibly damaging	Het
Cd101	T	A	3: 100,911,021 (GRCm39)	Y879F	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh23	T	C	10: 60,272,586 (GRCm39)	T530A	possibly damaging	Het
Cep68	G	T	11: 20,188,477 (GRCm39)	Q643K	probably damaging	Het
Ces1c	A	G	8: 93,854,197 (GRCm39)	S113P	probably damaging	Het
Cnga4	T	C	7: 105,056,232 (GRCm39)	I278T	probably benign	Het
Col1a1	A	G	11: 94,842,402 (GRCm39)	D1440G	unknown	Het
Cspp1	A	G	1: 10,117,691 (GRCm39)	I48V	possibly damaging	Het
Cyp39a1	C	A	17: 44,057,488 (GRCm39)	D442E	probably damaging	Het
Dock3	A	T	9: 106,868,292 (GRCm39)	F664Y	probably damaging	Het
Gpcpd1	A	T	2: 132,389,622 (GRCm39)	H244Q	probably benign	Het
Gtf3a	T	A	5: 146,888,092 (GRCm39)	V131E	probably benign	Het
Gtpbp3	A	T	8: 71,943,026 (GRCm39)	R147W	probably damaging	Het
H2-Oa	A	T	17: 34,313,344 (GRCm39)	I132F	probably damaging	Het
Hsd17b8	G	A	17: 34,246,552 (GRCm39)		probably benign	Het
Idi1	T	A	13: 8,937,963 (GRCm39)	C91*	probably null	Het
Itga11	A	G	9: 62,662,478 (GRCm39)	I484V	probably benign	Het
Kpna3	C	T	14: 61,628,694 (GRCm39)	S101N	probably damaging	Het
Larp4	G	A	15: 99,870,898 (GRCm39)		probably benign	Het
Mink1	T	C	11: 70,495,970 (GRCm39)	L390P	probably damaging	Het
Morc1	T	G	16: 48,322,715 (GRCm39)	S337R	probably benign	Het
Myo10	A	G	15: 25,786,026 (GRCm39)	R1236G	probably damaging	Het
Nkx3-1	T	C	14: 69,429,396 (GRCm39)	I138T	possibly damaging	Het
Nnt	T	C	13: 119,502,936 (GRCm39)	N489S	probably damaging	Het
Nrcam	A	T	12: 44,617,136 (GRCm39)	I711F	probably benign	Het
Ntrk3	A	G	7: 78,227,522 (GRCm39)	S4P	probably damaging	Het
Obsl1	T	C	1: 75,464,607 (GRCm39)	T1605A	possibly damaging	Het
Or1j17	A	G	2: 36,578,655 (GRCm39)	I214V	possibly damaging	Het
Or7g32	A	G	9: 19,408,557 (GRCm39)	E171G	probably benign	Het
Pank1	T	C	19: 34,856,316 (GRCm39)	H54R	probably benign	Het
Pgm2l1	A	G	7: 99,917,472 (GRCm39)	I530V	probably benign	Het
Psmd2	A	G	16: 20,480,405 (GRCm39)	T709A	probably benign	Het
Qsox1	G	T	1: 155,688,581 (GRCm39)		probably benign	Het
Rbm14	A	G	19: 4,852,823 (GRCm39)	S520P	probably benign	Het
Rbm15b	G	A	9: 106,762,120 (GRCm39)	R683C	probably benign	Het
Rhbdd2	T	A	5: 135,664,876 (GRCm39)	V69D	probably damaging	Het
Sart1	T	C	19: 5,438,576 (GRCm39)	E27G	possibly damaging	Het
Scn4a	G	A	11: 106,239,553 (GRCm39)	P153L	probably damaging	Het
Serpinb6d	A	T	13: 33,855,230 (GRCm39)	R301S	probably benign	Het
Sf3a2	C	A	10: 80,640,275 (GRCm39)		probably benign	Het
Syne1	T	C	10: 4,997,767 (GRCm39)	D400G	probably benign	Het
Tenm2	T	C	11: 35,915,460 (GRCm39)	S2025G	possibly damaging	Het
Ttc16	A	T	2: 32,657,988 (GRCm39)	D476E	probably damaging	Het
Ttc9c	A	T	19: 8,793,396 (GRCm39)	C81*	probably null	Het
Ulk2	G	A	11: 61,694,488 (GRCm39)	P474L	probably damaging	Het
Vmn1r66	A	G	7: 10,008,722 (GRCm39)	C104R	probably damaging	Het
Vwa2	C	T	19: 56,897,752 (GRCm39)	H686Y	probably damaging	Het

Other mutations in Ctsj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Ctsj	APN	13	61,149,232 (GRCm39)	missense	possibly damaging	0.66
IGL02199:Ctsj	APN	13	61,150,351 (GRCm39)	missense	probably damaging	0.99
IGL02630:Ctsj	APN	13	61,149,214 (GRCm39)	missense	probably damaging	1.00
IGL02809:Ctsj	APN	13	61,150,974 (GRCm39)	missense	probably damaging	1.00
IGL03066:Ctsj	APN	13	61,152,302 (GRCm39)	missense	possibly damaging	0.49
IGL02799:Ctsj	UTSW	13	61,151,634 (GRCm39)	missense	probably benign	0.01
PIT4581001:Ctsj	UTSW	13	61,150,370 (GRCm39)	missense	probably damaging	1.00
R0094:Ctsj	UTSW	13	61,151,519 (GRCm39)	critical splice donor site	probably null
R0586:Ctsj	UTSW	13	61,151,515 (GRCm39)	splice site	probably benign
R0841:Ctsj	UTSW	13	61,150,357 (GRCm39)	missense	probably damaging	0.98
R1145:Ctsj	UTSW	13	61,150,357 (GRCm39)	missense	probably damaging	0.98
R1145:Ctsj	UTSW	13	61,150,357 (GRCm39)	missense	probably damaging	0.98
R1146:Ctsj	UTSW	13	61,150,312 (GRCm39)	missense	probably benign	0.07
R1146:Ctsj	UTSW	13	61,150,312 (GRCm39)	missense	probably benign	0.07
R2201:Ctsj	UTSW	13	61,150,363 (GRCm39)	missense	probably damaging	1.00
R2402:Ctsj	UTSW	13	61,148,388 (GRCm39)	missense	probably damaging	1.00
R5325:Ctsj	UTSW	13	61,151,839 (GRCm39)	missense	possibly damaging	0.93
R5416:Ctsj	UTSW	13	61,152,337 (GRCm39)	missense	probably damaging	1.00
R5776:Ctsj	UTSW	13	61,150,956 (GRCm39)	missense	probably damaging	1.00
R6802:Ctsj	UTSW	13	61,150,888 (GRCm39)	missense	probably benign	0.25
R7072:Ctsj	UTSW	13	61,150,897 (GRCm39)	nonsense	probably null
R7331:Ctsj	UTSW	13	61,151,645 (GRCm39)	missense	probably benign
R7386:Ctsj	UTSW	13	61,148,373 (GRCm39)	missense	possibly damaging	0.74
R7853:Ctsj	UTSW	13	61,151,884 (GRCm39)	missense	probably damaging	1.00
R8164:Ctsj	UTSW	13	61,150,334 (GRCm39)	missense	probably benign	0.01
R8286:Ctsj	UTSW	13	61,148,330 (GRCm39)	nonsense	probably null
R8300:Ctsj	UTSW	13	61,150,286 (GRCm39)	missense	probably damaging	0.98
R8300:Ctsj	UTSW	13	61,150,285 (GRCm39)	missense	probably damaging	1.00
R9147:Ctsj	UTSW	13	61,149,249 (GRCm39)	missense	probably damaging	1.00
R9148:Ctsj	UTSW	13	61,149,249 (GRCm39)	missense	probably damaging	1.00
R9360:Ctsj	UTSW	13	61,151,634 (GRCm39)	missense	probably benign	0.01
R9445:Ctsj	UTSW	13	61,151,838 (GRCm39)	missense	possibly damaging	0.92
R9522:Ctsj	UTSW	13	61,152,257 (GRCm39)	nonsense	probably null
R9632:Ctsj	UTSW	13	61,151,828 (GRCm39)	missense	probably benign	0.26
Z1176:Ctsj	UTSW	13	61,151,929 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTGCACATCTCTCCATGC -3'
(R):5'- CTGCACAACAAGGAGAATAGTCTG -3'

Sequencing Primer
(F):5'- TTTTCAAAGTGGCTTAAGAAAGGG -3'
(R):5'- AGAATAGTCTGGGGAAGAATAACTTC -3'

Posted On

2016-06-06