Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02903:Cts7'

363714

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cts7

Ensembl Gene

ENSMUSG00000021440

Gene Name

cathepsin 7

Synonyms

Epcs24, Epcs71, CTS1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL02903

Quality Score

Status

Chromosome

Chromosomal Location

61352461-61358197 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 61356626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153508 (fasta)

Gene Model

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

AlphaFold

Q91ZF2

Predicted Effect

probably benign
Transcript: ENSMUST00000021892

SMART Domains

Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440

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 benign
Transcript: ENSMUST00000224986

Predicted Effect

probably benign
Transcript: ENSMUST00000225321

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	T	15: 8,269,778	R3150M	unknown	Het
2410089E03Rik	G	T	15: 8,269,779	R3150S	unknown	Het
4931417E11Rik	A	G	6: 73,469,120	Y149H	probably damaging	Het
Alox5	T	G	6: 116,420,335	N296T	probably damaging	Het
Anks6	C	T	4: 47,045,004	E301K	probably damaging	Het
Astn1	A	G	1: 158,688,550	S1237G	probably damaging	Het
Atf6	G	A	1: 170,799,714	P394S	probably benign	Het
Atp4a	G	A	7: 30,715,919	M321I	probably benign	Het
C4bp	G	A	1: 130,655,985	T82I	probably damaging	Het
Cask	A	T	X: 13,552,447		probably benign	Het
Cenpf	A	T	1: 189,646,876	S2906T	probably damaging	Het
Cfl1	T	C	19: 5,492,800	F103L	probably benign	Het
Chrnb3	A	T	8: 27,386,806	T83S	probably damaging	Het
Cmtr2	A	G	8: 110,222,878	T607A	probably benign	Het
Dgkz	A	T	2: 91,939,962	Y514N	possibly damaging	Het
Dmrtc1b	T	A	X: 102,713,567	L206Q	probably benign	Het
Dus3l	C	T	17: 56,768,363	L397F	probably damaging	Het
Fam159b	T	A	13: 104,863,610	Y35F	probably benign	Het
Gm13089	A	T	4: 143,699,166	M69K	probably benign	Het
Gm6356	C	T	14: 6,973,735	G27E	probably damaging	Het
Hkdc1	C	T	10: 62,400,191		probably null	Het
Kcmf1	A	T	6: 72,858,883	V21E	possibly damaging	Het
Kcnh4	T	A	11: 100,757,654	T75S	possibly damaging	Het
Lemd2	A	G	17: 27,193,210		probably benign	Het
Magee1	G	T	X: 105,123,339	R910L	probably damaging	Het
Mcm3ap	T	C	10: 76,471,258		probably benign	Het
Mfsd4b3	T	A	10: 39,947,643	E207V	possibly damaging	Het
Olfr1354	A	G	10: 78,917,416	D192G	probably damaging	Het
Olfr697	A	G	7: 106,741,710	S75P	probably damaging	Het
Pappa	T	C	4: 65,261,980	V1026A	probably damaging	Het
Paxip1	A	G	5: 27,748,872	L942P	probably damaging	Het
Ppp1r12b	A	T	1: 134,955,649	L45Q	probably benign	Het
Ptprq	T	C	10: 107,666,586	T824A	possibly damaging	Het
Rfwd3	T	C	8: 111,278,229	T574A	probably benign	Het
Rsbn1	T	C	3: 103,928,569	S308P	probably damaging	Het
Smr2	A	T	5: 88,108,630	I56F	probably benign	Het
Wdfy4	C	T	14: 33,109,650	R873H	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
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
R2442:Cts7	UTSW	13	61355617	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
R9675:Cts7	UTSW	13	61356557	missense	probably benign	0.00
R9703:Cts7	UTSW	13	61356536	missense	probably damaging	0.98
R9758:Cts7	UTSW	13	61356409	missense	probably damaging	0.98
Z1177:Cts7	UTSW	13	61355632	missense	probably benign	0.19

Posted On

2015-12-18