Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01954:Cts7'

181384

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cts7

Ensembl Gene

ENSMUSG00000021440

Gene Name

cathepsin 7

Synonyms

Epcs24, CTS1, Epcs71

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL01954

Quality Score

Status

Chromosome

Chromosomal Location

61500275-61506010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61500637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 303 (R303S)

Ref Sequence

ENSEMBL: ENSMUSP00000153603 (fasta)

Gene Model

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

AlphaFold

Q91ZF2

Predicted Effect

probably benign
Transcript: ENSMUST00000021892
AA Change: R303S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: R303S

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
AA Change: R303S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000225321

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,741 (GRCm39)	D330E	probably damaging	Het
Acsm3	T	C	7: 119,374,306 (GRCm39)		probably benign	Het
Ankrd26	T	A	6: 118,535,966 (GRCm39)	Y156F	possibly damaging	Het
Bcr	G	A	10: 75,011,173 (GRCm39)		probably null	Het
Cpn2	C	T	16: 30,079,138 (GRCm39)	A188T	probably benign	Het
Ctdsp1	T	C	1: 74,433,242 (GRCm39)		probably benign	Het
Dock7	T	C	4: 98,971,388 (GRCm39)	D59G	probably damaging	Het
Garre1	A	T	7: 33,944,460 (GRCm39)	W91R	probably damaging	Het
Gpr149	T	C	3: 62,438,348 (GRCm39)	N603S	probably benign	Het
Gucy2g	A	G	19: 55,187,123 (GRCm39)	I1099T	probably benign	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Ighv1-80	A	T	12: 115,876,253 (GRCm39)	V21D	probably benign	Het
Klhl18	T	C	9: 110,257,934 (GRCm39)	Y432C	probably damaging	Het
Lama4	A	G	10: 38,963,295 (GRCm39)	D1289G	probably benign	Het
Mab21l4	T	A	1: 93,079,794 (GRCm39)	D432V	probably damaging	Het
Mcm7	T	C	5: 138,165,507 (GRCm39)	T466A	probably damaging	Het
Megf8	A	G	7: 25,048,439 (GRCm39)	E1704G	possibly damaging	Het
Mettl25	C	T	10: 105,659,068 (GRCm39)	C405Y	probably damaging	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Ndc1	T	A	4: 107,253,001 (GRCm39)	I590N	probably damaging	Het
Npnt	G	T	3: 132,615,724 (GRCm39)	N137K	probably damaging	Het
Numa1	C	T	7: 101,645,300 (GRCm39)	R309*	probably null	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or11i1	A	G	3: 106,729,311 (GRCm39)	I188T	possibly damaging	Het
Or5v1	C	A	17: 37,809,540 (GRCm39)		probably benign	Het
Pcdhb9	G	T	18: 37,534,794 (GRCm39)	V263F	probably damaging	Het
Pld4	T	C	12: 112,734,355 (GRCm39)		probably null	Het
Ppp2r3c	A	G	12: 55,339,353 (GRCm39)	L170P	probably damaging	Het
Prex2	T	A	1: 11,210,235 (GRCm39)	D558E	possibly damaging	Het
Rasal2	A	G	1: 157,005,269 (GRCm39)	S227P	possibly damaging	Het
Rasal2	A	T	1: 157,003,686 (GRCm39)	D324E	probably damaging	Het
Rcbtb1	A	G	14: 59,467,416 (GRCm39)	Y418C	probably damaging	Het
Rhag	T	C	17: 41,139,341 (GRCm39)	F92S	possibly damaging	Het
Scel	T	C	14: 103,840,678 (GRCm39)		probably benign	Het
Serinc5	A	G	13: 92,819,441 (GRCm39)	N125S	probably damaging	Het
Sgpl1	A	T	10: 60,936,672 (GRCm39)	M561K	probably benign	Het
Sostdc1	T	C	12: 36,367,121 (GRCm39)	V99A	probably damaging	Het
Them6	A	G	15: 74,593,538 (GRCm39)	Y132C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r27	A	T	6: 124,169,207 (GRCm39)	F641Y	probably damaging	Het
Vps13c	A	G	9: 67,876,580 (GRCm39)	Y3384C	probably damaging	Het
Zbtb32	G	T	7: 30,289,353 (GRCm39)		probably null	Het

Other mutations in Cts7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Cts7	APN	13	61,504,723 (GRCm39)	critical splice donor site	probably null
IGL01973:Cts7	APN	13	61,503,414 (GRCm39)	missense	probably benign	0.02
IGL02098:Cts7	APN	13	61,504,343 (GRCm39)	missense	probably damaging	1.00
IGL02716:Cts7	APN	13	61,504,422 (GRCm39)	missense	probably benign	0.01
IGL02903:Cts7	APN	13	61,504,440 (GRCm39)	splice site	probably benign
IGL03351:Cts7	APN	13	61,504,417 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Cts7	UTSW	13	61,504,386 (GRCm39)	missense	probably damaging	1.00
R0691:Cts7	UTSW	13	61,503,548 (GRCm39)	missense	probably damaging	1.00
R1168:Cts7	UTSW	13	61,501,631 (GRCm39)	missense	probably damaging	0.99
R1711:Cts7	UTSW	13	61,500,624 (GRCm39)	missense	probably damaging	1.00
R2352:Cts7	UTSW	13	61,500,586 (GRCm39)	nonsense	probably null
R2442:Cts7	UTSW	13	61,503,431 (GRCm39)	nonsense	probably null
R3817:Cts7	UTSW	13	61,504,350 (GRCm39)	missense	probably damaging	0.98
R5513:Cts7	UTSW	13	61,503,398 (GRCm39)	missense	possibly damaging	0.70
R5870:Cts7	UTSW	13	61,503,545 (GRCm39)	missense	probably damaging	0.99
R6286:Cts7	UTSW	13	61,500,584 (GRCm39)	missense	probably damaging	1.00
R6288:Cts7	UTSW	13	61,500,584 (GRCm39)	missense	probably damaging	1.00
R6479:Cts7	UTSW	13	61,503,455 (GRCm39)	missense	probably benign	0.00
R6653:Cts7	UTSW	13	61,502,817 (GRCm39)	missense	probably damaging	1.00
R6721:Cts7	UTSW	13	61,504,108 (GRCm39)	missense	probably damaging	1.00
R7246:Cts7	UTSW	13	61,503,394 (GRCm39)	missense	probably damaging	0.99
R7644:Cts7	UTSW	13	61,504,782 (GRCm39)	nonsense	probably null
R7939:Cts7	UTSW	13	61,504,364 (GRCm39)	missense	probably damaging	1.00
R8336:Cts7	UTSW	13	61,504,723 (GRCm39)	critical splice donor site	probably null
R9675:Cts7	UTSW	13	61,504,371 (GRCm39)	missense	probably benign	0.00
R9703:Cts7	UTSW	13	61,504,350 (GRCm39)	missense	probably damaging	0.98
R9758:Cts7	UTSW	13	61,504,223 (GRCm39)	missense	probably damaging	0.98
Z1177:Cts7	UTSW	13	61,503,446 (GRCm39)	missense	probably benign	0.19

Posted On

2014-05-07