Mutagenetix > Incidental Mutation

Incidental Mutation 'R5513:Cts7'

440195

Institutional Source

Beutler Lab

Gene Symbol

Cts7

Ensembl Gene

ENSMUSG00000021440

Gene Name

cathepsin 7

Synonyms

Epcs24, CTS1, Epcs71

MMRRC Submission

043073-MU

Accession Numbers

Essential gene?

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

Stock #

R5513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61500275-61506010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61503398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 189 (K189E)

Ref Sequence

ENSEMBL: ENSMUSP00000153603 (fasta)

Gene Model

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

AlphaFold

Q91ZF2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021892
AA Change: K189E

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: K189E

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

possibly damaging
Transcript: ENSMUST00000224986
AA Change: K189E

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225321
AA Change: K189E

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,539,623 (GRCm39)		probably null	Het
Akr1b1	C	A	6: 34,293,581 (GRCm39)		probably benign	Het
Alppl2	T	A	1: 87,015,060 (GRCm39)	N434Y	probably benign	Het
Ampd2	A	G	3: 107,982,983 (GRCm39)	I648T	possibly damaging	Het
Ankrd11	T	C	8: 123,619,259 (GRCm39)	E1510G	probably benign	Het
Ano2	A	C	6: 126,016,285 (GRCm39)	K939N	possibly damaging	Het
Arhgef5	A	G	6: 43,249,273 (GRCm39)	Y8C	probably damaging	Het
Aspm	A	T	1: 139,410,136 (GRCm39)	I2609F	probably damaging	Het
Camsap2	A	T	1: 136,208,601 (GRCm39)	S964T	probably benign	Het
Cd22	C	T	7: 30,566,450 (GRCm39)	R823Q	probably damaging	Het
Cd74	T	C	18: 60,944,377 (GRCm39)	C196R	probably damaging	Het
Cfap73	A	T	5: 120,769,777 (GRCm39)	I82N	probably damaging	Het
Cidec	A	T	6: 113,405,140 (GRCm39)	Y177N	probably damaging	Het
Crb1	C	T	1: 139,164,559 (GRCm39)		probably null	Het
Cyp2c68	A	T	19: 39,691,850 (GRCm39)	Y358N	probably damaging	Het
Dab2ip	A	T	2: 35,600,266 (GRCm39)	H294L	probably benign	Het
Dnah6	T	C	6: 73,167,402 (GRCm39)	D502G	probably null	Het
Dnah8	T	A	17: 30,971,890 (GRCm39)	M2768K	probably damaging	Het
Etl4	C	A	2: 20,748,638 (GRCm39)	S405R	probably damaging	Het
Fsip2	G	T	2: 82,781,252 (GRCm39)	L19F	probably damaging	Het
Fsip2	T	A	2: 82,815,542 (GRCm39)	N3758K	possibly damaging	Het
Fsip2	C	G	2: 82,781,256 (GRCm39)	Q217E	probably benign	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Hivep2	A	T	10: 14,008,417 (GRCm39)	K1672*	probably null	Het
Igkv2-137	G	A	6: 67,532,998 (GRCm39)	G54S	possibly damaging	Het
Ints8	A	G	4: 11,248,303 (GRCm39)	V105A	possibly damaging	Het
Lrba	C	T	3: 86,449,948 (GRCm39)	S2089F	probably damaging	Het
Lrrc8b	A	G	5: 105,633,850 (GRCm39)	K774R	probably damaging	Het
Mcm4	T	A	16: 15,448,378 (GRCm39)	Y393F	probably benign	Het
Mki67	A	G	7: 135,309,479 (GRCm39)	L324P	probably damaging	Het
Or4d6	A	G	19: 12,086,745 (GRCm39)	L55P	probably damaging	Het
Or52n3	A	T	7: 104,530,706 (GRCm39)	H264L	probably damaging	Het
Or5a3	G	A	19: 12,400,047 (GRCm39)	V125I	probably benign	Het
Or9s13	T	C	1: 92,548,102 (GRCm39)	V158A	probably benign	Het
Pld4	A	G	12: 112,728,988 (GRCm39)	E19G	probably benign	Het
Plvap	T	C	8: 71,964,173 (GRCm39)	E63G	probably damaging	Het
Ppig	A	G	2: 69,580,703 (GRCm39)	T746A	probably benign	Het
Prdm2	GCTCCTCCTCCTCCTCCTCCTCCTC	GCTCCTCCTCCTCCTCCTCCTC	4: 142,862,463 (GRCm39)		probably benign	Het
Rbm15b	A	G	9: 106,763,316 (GRCm39)	L284P	probably benign	Het
Relch	G	A	1: 105,678,698 (GRCm39)	V1130I	probably damaging	Het
Rhbdl3	T	C	11: 80,222,668 (GRCm39)	V239A	probably damaging	Het
Sae1	T	C	7: 16,100,781 (GRCm39)	E197G	probably benign	Het
Sdhaf2	C	T	19: 10,494,394 (GRCm39)	R105H	probably damaging	Het
Senp3	T	C	11: 69,567,965 (GRCm39)	D425G	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc46a1	T	C	11: 78,357,376 (GRCm39)	F143S	probably benign	Het
Tom1	T	A	8: 75,783,848 (GRCm39)	N52K	probably damaging	Het
Vmn1r11	A	T	6: 57,114,617 (GRCm39)	T94S	probably damaging	Het
Zfp236	A	G	18: 82,676,147 (GRCm39)	I390T	probably damaging	Het
Zfp709	A	T	8: 72,643,900 (GRCm39)	H443L	probably damaging	Het
Zfp960	C	T	17: 17,307,996 (GRCm39)	P237S	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTAATGGCAGCCCTGATG -3'
(R):5'- GCACCCATCAAATGCTGATAG -3'

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

Posted On

2016-11-08