Mutagenetix > Incidental Mutations

Incidental Mutation 'R1146:Ctsj'

165129

Institutional Source

Beutler Lab

Gene Symbol

Ctsj

Ensembl Gene

ENSMUSG00000055298

Gene Name

cathepsin J

Synonyms

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

MMRRC Submission

039219-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61000179-61005959 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61002498 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 230 (P230L)

Ref Sequence

ENSEMBL: ENSMUSP00000153389 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071526
AA Change: P229L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071457
Gene: ENSMUSG00000055298
AA Change: P229L

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

probably benign
Transcript: ENSMUST00000224224
AA Change: P230L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224306

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 95.4%
20x: 88.7%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,531,676	V1848E	probably damaging	Het
Alpk3	A	G	7: 81,077,595	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,740,008	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,364,971		probably benign	Het
Dync1i2	C	T	2: 71,227,820		probably benign	Het
Eme1	A	G	11: 94,645,451	L564P	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Frg1	A	G	8: 41,411,217		probably benign	Het
Fzd2	A	T	11: 102,605,380	S217C	possibly damaging	Het
Gaa	G	T	11: 119,274,904	R81L	probably damaging	Het
Gfral	A	G	9: 76,167,059	V368A	probably benign	Het
Gm10774	T	C	2: 126,709,472	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830	N545K	probably damaging	Het
Herc2	T	C	7: 56,146,696	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231	I53T	probably benign	Het
Iqub	G	A	6: 24,505,628	L94F	possibly damaging	Het
Kpna1	C	T	16: 36,033,379	R460*	probably null	Het
Masp1	T	C	16: 23,492,115	E189G	probably damaging	Het
Mogat1	A	G	1: 78,523,613	I105V	probably benign	Het
Mpi	A	G	9: 57,545,189		probably benign	Het
Msh2	C	A	17: 87,680,060	D209E	probably benign	Het
Nsf	G	A	11: 103,828,538	T646I	probably damaging	Het
Olfr1257	C	T	2: 89,881,206	P127S	probably damaging	Het
Olfr1416	G	A	1: 92,479,890	H244Y	probably damaging	Het
Olfr1449	T	A	19: 12,934,965	S76T	possibly damaging	Het
Olfr980	A	T	9: 40,006,094	V285D	possibly damaging	Het
Otogl	T	A	10: 107,886,513	I327F	probably damaging	Het
Pappa2	T	C	1: 158,854,982	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512		probably benign	Het
Pfkfb4	A	G	9: 109,007,726	E163G	probably benign	Het
Phc1	T	C	6: 122,323,457		probably benign	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Ppfia3	A	C	7: 45,352,215	D424E	probably benign	Het
Prss16	A	G	13: 22,006,968		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,201,730		probably null	Het
Rexo1	C	T	10: 80,544,405	S919N	probably benign	Het
Sec31a	T	C	5: 100,362,173	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,117,103	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,550,565	V539A	probably benign	Het
Sf3b5	A	G	10: 13,008,831	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tor1aip2	T	C	1: 156,064,737	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,922,907	E380G	probably damaging	Het
Usp16	C	T	16: 87,474,648	T364M	possibly damaging	Het
Wwox	T	C	8: 114,712,036	S281P	probably damaging	Het
Zfp110	A	G	7: 12,846,794		probably null	Het
Zfp335	G	A	2: 164,896,123	A856V	probably benign	Het
Zfp652	G	A	11: 95,749,782	E178K	possibly damaging	Het

Other mutations in Ctsj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Ctsj	APN	13	61001418	missense	possibly damaging	0.66
IGL02199:Ctsj	APN	13	61002537	missense	probably damaging	0.99
IGL02630:Ctsj	APN	13	61001400	missense	probably damaging	1.00
IGL02809:Ctsj	APN	13	61003160	missense	probably damaging	1.00
IGL03066:Ctsj	APN	13	61004488	missense	possibly damaging	0.49
IGL02799:Ctsj	UTSW	13	61003820	missense	probably benign	0.01
PIT4581001:Ctsj	UTSW	13	61002556	missense	probably damaging	1.00
R0094:Ctsj	UTSW	13	61003705	critical splice donor site	probably null
R0586:Ctsj	UTSW	13	61003701	splice site	probably benign
R0841:Ctsj	UTSW	13	61002543	missense	probably damaging	0.98
R1145:Ctsj	UTSW	13	61002543	missense	probably damaging	0.98
R1145:Ctsj	UTSW	13	61002543	missense	probably damaging	0.98
R1146:Ctsj	UTSW	13	61002498	missense	probably benign	0.07
R2201:Ctsj	UTSW	13	61002549	missense	probably damaging	1.00
R2402:Ctsj	UTSW	13	61000574	missense	probably damaging	1.00
R5081:Ctsj	UTSW	13	61003850	missense	possibly damaging	0.94
R5325:Ctsj	UTSW	13	61004025	missense	possibly damaging	0.93
R5416:Ctsj	UTSW	13	61004523	missense	probably damaging	1.00
R5776:Ctsj	UTSW	13	61003142	missense	probably damaging	1.00
R6802:Ctsj	UTSW	13	61003074	missense	probably benign	0.25
R7072:Ctsj	UTSW	13	61003083	nonsense	probably null
R7331:Ctsj	UTSW	13	61003831	missense	probably benign
R7386:Ctsj	UTSW	13	61000559	missense	possibly damaging	0.74
R7853:Ctsj	UTSW	13	61004070	missense	probably damaging	1.00
R8164:Ctsj	UTSW	13	61002520	missense	probably benign	0.01
R8286:Ctsj	UTSW	13	61000516	nonsense	probably null
R8300:Ctsj	UTSW	13	61002471	missense	probably damaging	1.00
R8300:Ctsj	UTSW	13	61002472	missense	probably damaging	0.98
Z1176:Ctsj	UTSW	13	61004115	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCATGGCATTGGGATGTCAC -3'
(R):5'- GCTGAGGCAACCTATCCATACGAAG -3'

Sequencing Primer
(F):5'- GCATTGGGATGTCACAATTCTTC -3'
(R):5'- CTTCTGAACTCCCATTAGGAGGTAG -3'

Posted On

2014-03-28