Mutagenetix > Incidental Mutations

Incidental Mutation 'R2442:Cts7'

249832

Institutional Source

Beutler Lab

Gene Symbol

Cts7

Ensembl Gene

ENSMUSG00000021440

Gene Name

cathepsin 7

Synonyms

Epcs24, Epcs71, CTS1

MMRRC Submission

040400-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R2442 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61352461-61358197 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 61355617 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 178 (G178*)

Ref Sequence

ENSEMBL: ENSMUSP00000153508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021892] [ENSMUST00000224773] [ENSMUST00000224986] [ENSMUST00000225321]

Predicted Effect

probably null
Transcript: ENSMUST00000021892
AA Change: G178*

SMART Domains

Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: G178*

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Inhibitor_I29	29	88	2.02e-15	SMART
Pept_C1	112	330	6.25e-110	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224773

Predicted Effect

probably null
Transcript: ENSMUST00000224986
AA Change: G178*

Predicted Effect

probably null
Transcript: ENSMUST00000225321
AA Change: G178*

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,328,632	V256A	probably benign	Het
Acap1	T	C	11: 69,889,491	N42S	possibly damaging	Het
Apoo-ps	C	A	13: 107,414,640		noncoding transcript	Het
Bri3	C	T	5: 144,244,601	T39I	probably benign	Het
Bsn	A	G	9: 108,106,920	S3312P	unknown	Het
Camkmt	C	A	17: 85,090,775	A17E	possibly damaging	Het
Cc2d2a	G	T	5: 43,671,305		probably null	Het
Ccdc122	G	T	14: 77,091,958	M150I	possibly damaging	Het
Celf4	A	G	18: 25,753,459	F57L	probably damaging	Het
Cep192	T	A	18: 67,824,688	F564Y	possibly damaging	Het
Ces1c	T	C	8: 93,123,212	D38G	probably damaging	Het
Dcc	A	T	18: 71,456,883	Y681N	probably damaging	Het
Dhx29	A	G	13: 112,946,974	E521G	possibly damaging	Het
Dnase2a	T	C	8: 84,908,993	V35A	probably damaging	Het
Eif3l	A	G	15: 79,085,607	M268V	probably damaging	Het
Foxc1	A	G	13: 31,808,798	M531V	unknown	Het
Grin2c	A	G	11: 115,251,134	Y820H	probably damaging	Het
Ifit1bl1	G	A	19: 34,594,889	A56V	probably benign	Het
Iqsec1	T	C	6: 90,689,883	E524G	possibly damaging	Het
Kcnt2	A	G	1: 140,376,353	I154V	possibly damaging	Het
Kdm1b	T	A	13: 47,062,975	Y274N	probably benign	Het
Kntc1	T	A	5: 123,810,859	L1889Q	probably damaging	Het
Lama1	A	G	17: 67,768,317	T1010A	probably benign	Het
Mmp11	T	C	10: 75,927,245	N171S	probably benign	Het
Myom1	A	G	17: 71,110,735	E1409G	probably damaging	Het
N4bp1	A	G	8: 86,862,040	I90T	probably damaging	Het
Olfr1263	T	C	2: 90,015,341	V137A	probably benign	Het
Plcb4	T	C	2: 135,950,382	S342P	probably damaging	Het
Plg	A	G	17: 12,410,960	E627G	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Slc7a14	A	G	3: 31,230,320	I289T	probably damaging	Het
Srpr	G	A	9: 35,212,001	G43S	possibly damaging	Het
Tbc1d9	T	C	8: 83,166,076	M1T	probably null	Het
Tcte2	A	T	17: 13,714,077	I90N	possibly damaging	Het
Trim30c	G	A	7: 104,382,274	P445S	probably damaging	Het
Trrap	A	G	5: 144,817,966	Q1984R	probably damaging	Het
Ubn2	T	C	6: 38,491,005	S885P	probably benign	Het
Unc45a	A	G	7: 80,339,669	F17S	probably damaging	Het
Uts2b	C	T	16: 27,361,032	V75I	probably benign	Het
Vmn2r103	A	G	17: 19,773,531	K57E	probably benign	Het
Vmn2r82	A	G	10: 79,385,376	S524G	probably damaging	Het

Other mutations in Cts7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Cts7	APN	13	61356909	critical splice donor site	probably null
IGL01954:Cts7	APN	13	61352823	missense	probably benign	0.06
IGL01973:Cts7	APN	13	61355600	missense	probably benign	0.02
IGL02098:Cts7	APN	13	61356529	missense	probably damaging	1.00
IGL02716:Cts7	APN	13	61356608	missense	probably benign	0.01
IGL02903:Cts7	APN	13	61356626	splice site	probably benign
IGL03351:Cts7	APN	13	61356603	missense	probably damaging	1.00
PIT4305001:Cts7	UTSW	13	61356572	missense	probably damaging	1.00
R0691:Cts7	UTSW	13	61355734	missense	probably damaging	1.00
R1168:Cts7	UTSW	13	61353817	missense	probably damaging	0.99
R1711:Cts7	UTSW	13	61352810	missense	probably damaging	1.00
R2352:Cts7	UTSW	13	61352772	nonsense	probably null
R3817:Cts7	UTSW	13	61356536	missense	probably damaging	0.98
R5513:Cts7	UTSW	13	61355584	missense	possibly damaging	0.70
R5870:Cts7	UTSW	13	61355731	missense	probably damaging	0.99
R6286:Cts7	UTSW	13	61352770	missense	probably damaging	1.00
R6288:Cts7	UTSW	13	61352770	missense	probably damaging	1.00
R6479:Cts7	UTSW	13	61355641	missense	probably benign	0.00
R6653:Cts7	UTSW	13	61355003	missense	probably damaging	1.00
R6721:Cts7	UTSW	13	61356294	missense	probably damaging	1.00
R7246:Cts7	UTSW	13	61355580	missense	probably damaging	0.99
R7644:Cts7	UTSW	13	61356968	nonsense	probably null
R7939:Cts7	UTSW	13	61356550	missense	probably damaging	1.00
R8336:Cts7	UTSW	13	61356909	critical splice donor site	probably null
Z1177:Cts7	UTSW	13	61355632	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TCAATGTGAGCTCTGAATACAGTG -3'
(R):5'- AGGCACCCATCAAATGCTG -3'

Sequencing Primer
(F):5'- TGAGCTCTGAATACAGTGTATTTTTC -3'
(R):5'- GCACCCATCAAATGCTGATAGTTTAC -3'

Posted On

2014-11-12