Mutagenetix > Incidental Mutation

Incidental Mutation 'R5870:Cts7'

455148

Institutional Source

Beutler Lab

Gene Symbol

Cts7

Ensembl Gene

ENSMUSG00000021440

Gene Name

cathepsin 7

Synonyms

Epcs24, CTS1, Epcs71

MMRRC Submission

044078-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R5870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61500275-61506010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61503545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 140 (S140T)

Ref Sequence

ENSEMBL: ENSMUSP00000153508 (fasta)

Gene Model

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

AlphaFold

Q91ZF2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021892
AA Change: S140T

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: S140T

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: S140T

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225321
AA Change: S140T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

93% (84/90)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,236,232 (GRCm39)	V156A	probably damaging	Het
Ak6	C	A	13: 100,791,932 (GRCm39)	P125Q	probably damaging	Het
Aqp4	A	C	18: 15,532,946 (GRCm39)	V49G	probably damaging	Het
Arfgef1	A	G	1: 10,251,163 (GRCm39)	I874T	probably damaging	Het
Arid1a	T	C	4: 133,408,387 (GRCm39)	D2040G	unknown	Het
Atp1a3	T	G	7: 24,697,003 (GRCm39)	D220A	probably benign	Het
C2cd4c	A	T	10: 79,448,043 (GRCm39)	I368N	possibly damaging	Het
Ccnt1	G	A	15: 98,441,394 (GRCm39)	Q625*	probably null	Het
Cd177	T	A	7: 24,455,757 (GRCm39)	H255L	probably benign	Het
Cdipt	G	A	7: 126,578,094 (GRCm39)	V114M	probably benign	Het
Coro1b	T	A	19: 4,199,384 (GRCm39)	H14Q	probably damaging	Het
Ctdp1	T	A	18: 80,451,901 (GRCm39)	D158V	unknown	Het
Dlgap3	T	A	4: 127,089,502 (GRCm39)	L366*	probably null	Het
Dnah9	C	T	11: 65,976,036 (GRCm39)	A1338T	probably benign	Het
Dock7	T	C	4: 98,952,199 (GRCm39)	I424V	probably benign	Het
Dock8	G	T	19: 25,109,490 (GRCm39)	A891S	probably benign	Het
Dync2i1	A	G	12: 116,219,865 (GRCm39)	S26P	possibly damaging	Het
Elmod3	A	G	6: 72,571,721 (GRCm39)		probably null	Het
Eps15	G	A	4: 109,218,507 (GRCm39)	E107K	probably damaging	Het
Esco1	A	T	18: 10,593,744 (GRCm39)		probably null	Het
Fuz	A	G	7: 44,549,742 (GRCm39)	T407A	probably damaging	Het
Galr1	A	T	18: 82,424,197 (GRCm39)	F27I	probably benign	Het
Glt1d1	A	G	5: 127,754,344 (GRCm39)	Y182C	probably damaging	Het
Gm37240	A	T	3: 84,597,828 (GRCm39)		probably benign	Het
Gm37610	A	G	6: 41,061,848 (GRCm39)		noncoding transcript	Het
Gm6658	G	T	8: 91,635,020 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,789 (GRCm39)	T74A	possibly damaging	Het
Hadha	G	A	5: 30,349,284 (GRCm39)	S109F	possibly damaging	Het
Herc3	A	T	6: 58,893,435 (GRCm39)	Q899L	probably benign	Het
Ift172	C	T	5: 31,434,284 (GRCm39)	E485K	probably benign	Het
Lrrc8e	A	G	8: 4,285,725 (GRCm39)	K650R	possibly damaging	Het
Ly6d	A	T	15: 74,635,381 (GRCm39)	V10D	possibly damaging	Het
Med27	A	G	2: 29,279,823 (GRCm39)		probably null	Het
Med29	A	T	7: 28,091,922 (GRCm39)	V56E	probably damaging	Het
Mobp	A	G	9: 119,996,919 (GRCm39)	K17E	probably damaging	Het
Mrpl37	G	A	4: 106,923,919 (GRCm39)	T25I	probably benign	Het
Myh1	A	G	11: 67,092,805 (GRCm39)	D33G	possibly damaging	Het
Nrg3	T	A	14: 39,194,586 (GRCm39)	I58F	possibly damaging	Het
Or52e2	A	G	7: 102,804,948 (GRCm39)	I2T	probably benign	Het
Or7e176	A	G	9: 20,171,874 (GRCm39)	D246G	probably benign	Het
Padi1	T	A	4: 140,553,892 (GRCm39)	D359V	probably benign	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pgm3	C	A	9: 86,452,414 (GRCm39)	K15N	probably damaging	Het
Phip	A	T	9: 82,790,730 (GRCm39)		probably benign	Het
Pot1a	G	A	6: 25,778,950 (GRCm39)	T48I	possibly damaging	Het
Ppic	T	C	18: 53,542,333 (GRCm39)	K125R	probably benign	Het
Ppm1j	T	C	3: 104,692,811 (GRCm39)	V440A	possibly damaging	Het
Prg4	T	A	1: 150,331,300 (GRCm39)	K458*	probably null	Het
Rd3	A	T	1: 191,717,261 (GRCm39)	M244L	probably benign	Het
Rflnb	A	G	11: 75,912,864 (GRCm39)	Y175H	probably benign	Het
Rnf157	T	A	11: 116,237,900 (GRCm39)	S574C	probably benign	Het
Sardh	A	G	2: 27,110,653 (GRCm39)		probably null	Het
Senp3	C	T	11: 69,569,048 (GRCm39)		probably null	Het
Siglec1	G	A	2: 130,914,767 (GRCm39)	R1450C	probably damaging	Het
Sim2	A	G	16: 93,924,193 (GRCm39)	H446R	probably damaging	Het
Spon1	T	C	7: 113,631,021 (GRCm39)	I444T	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Stxbp4	A	T	11: 90,428,782 (GRCm39)	I441N	possibly damaging	Het
Sugt1	G	A	14: 79,846,451 (GRCm39)	V163I	probably benign	Het
Surf1	G	T	2: 26,806,271 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,088,128 (GRCm39)	E1348G	probably benign	Het
Tc2n	A	T	12: 101,619,111 (GRCm39)	V349D	probably damaging	Het
Ten1	A	G	11: 116,105,751 (GRCm39)	R112G	possibly damaging	Het
Tm9sf4	A	G	2: 153,036,201 (GRCm39)	D321G	probably damaging	Het
Ttll12	A	T	15: 83,461,237 (GRCm39)	M594K	probably damaging	Het
Ttn	T	A	2: 76,703,058 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,937,285 (GRCm39)	Q185*	probably null	Het
Vmn2r112	A	G	17: 22,838,004 (GRCm39)	I822V	probably benign	Het
Zc3hc1	A	T	6: 30,382,682 (GRCm39)	L88*	probably null	Het
Zfr	T	A	15: 12,160,701 (GRCm39)	V758D	probably damaging	Het
Zfyve27	T	G	19: 42,160,110 (GRCm39)	L42R	probably benign	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
R5513:Cts7	UTSW	13	61,503,398 (GRCm39)	missense	possibly damaging	0.70
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'- GTTGCCTCAGCTTCTAGACC -3'
(R):5'- TATCACACCTGCAGTACAGTAG -3'

Sequencing Primer
(F):5'- CTCCATTGTTCTTCACATATTGGAAG -3'
(R):5'- TGCAGTACAGTAGAACACAGC -3'

Posted On

2017-02-10