Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03351:Cts7'

419694

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 #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

61500275-61506010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61504417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 49 (R49G)

Ref Sequence

ENSEMBL: ENSMUSP00000153508 (fasta)

Gene Model

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

AlphaFold

Q91ZF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021892
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: R49G

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 damaging
Transcript: ENSMUST00000224773
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224986
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225321
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,561,427 (GRCm39)	D251E	probably benign	Het
5730460C07Rik	C	T	3: 153,495,595 (GRCm39)		noncoding transcript	Het
Coch	G	A	12: 51,649,989 (GRCm39)	R326Q	probably benign	Het
Cpa3	A	G	3: 20,270,126 (GRCm39)	V366A	probably benign	Het
Csf1r	C	T	18: 61,250,180 (GRCm39)	Q382*	probably null	Het
Csta1	C	A	16: 35,951,411 (GRCm39)	G4*	probably null	Het
Dlg5	A	G	14: 24,220,522 (GRCm39)	V575A	probably benign	Het
Ero1a	G	T	14: 45,531,990 (GRCm39)	N227K	probably benign	Het
Faap24	G	T	7: 35,094,734 (GRCm39)	C58*	probably null	Het
Hfm1	G	A	5: 107,059,441 (GRCm39)	Q194*	probably null	Het
Hs3st5	T	A	10: 36,709,319 (GRCm39)	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,428 (GRCm39)	G375R	probably damaging	Het
Itgb5	T	C	16: 33,730,922 (GRCm39)	S93P	probably benign	Het
Kcnj6	A	T	16: 94,633,442 (GRCm39)	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,113,343 (GRCm39)	Q92*	probably null	Het
Klhl38	A	G	15: 58,186,726 (GRCm39)	M1T	probably null	Het
Krtap7-1	T	C	16: 89,304,884 (GRCm39)		probably benign	Het
L1cam	T	C	X: 72,906,634 (GRCm39)	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,015 (GRCm39)	N45S	probably benign	Het
Magea13	G	A	X: 57,964,297 (GRCm39)	V19I	probably benign	Het
Mmp2	A	G	8: 93,565,970 (GRCm39)	I424V	probably benign	Het
Myh8	A	G	11: 67,194,739 (GRCm39)	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,275,483 (GRCm39)	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134 (GRCm39)	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652 (GRCm39)	M368I	probably benign	Het
Nup58	T	C	14: 60,466,224 (GRCm39)	T445A	probably benign	Het
Or14a256	A	G	7: 86,264,885 (GRCm39)	Y323H	possibly damaging	Het
Or52r1b	A	G	7: 102,691,337 (GRCm39)	D212G	probably damaging	Het
Pkp3	A	G	7: 140,662,606 (GRCm39)	T73A	probably benign	Het
Pole	A	G	5: 110,449,864 (GRCm39)		probably benign	Het
Ppp2r3d	C	T	9: 101,088,391 (GRCm39)	G644D	probably benign	Het
Pramel23	G	A	4: 143,423,658 (GRCm39)	T377I	possibly damaging	Het
Ptprb	T	C	10: 116,175,487 (GRCm39)	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,744,943 (GRCm39)	K264N	probably damaging	Het
Rasal2	T	C	1: 157,020,311 (GRCm39)		probably benign	Het
Serpina6	A	T	12: 103,613,172 (GRCm39)	I376N	probably damaging	Het
Setx	T	G	2: 29,051,811 (GRCm39)	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,363,531 (GRCm39)	D99G	probably benign	Het
Spata31h1	T	C	10: 82,119,401 (GRCm39)		probably benign	Het
Taok1	A	G	11: 77,451,154 (GRCm39)	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,024,595 (GRCm39)	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,860,302 (GRCm39)	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,535,099 (GRCm39)	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,284,735 (GRCm39)	S152C	probably damaging	Het
Washc5	C	A	15: 59,235,199 (GRCm39)		probably benign	Het
Zfp369	T	G	13: 65,443,967 (GRCm39)	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,404,173 (GRCm39)	Y234C	probably damaging	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
IGL01954:Cts7	APN	13	61,500,637 (GRCm39)	missense	probably benign	0.06
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
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

2016-08-02