Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:Cts7'

554578

Institutional Source

Beutler Lab

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 #

PIT4305001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61352461-61358197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61356572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 59 (I59T)

Ref Sequence

ENSEMBL: ENSMUSP00000021892 (fasta)

Gene Model

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

AlphaFold

Q91ZF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021892
AA Change: I59T

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

SMART Domains

Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: I59T

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

possibly damaging
Transcript: ENSMUST00000224773
AA Change: I59T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224986
AA Change: I59T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000225321
AA Change: I59T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,259,041	N801D	probably benign	Het
Adcy2	T	C	13: 68,678,602	K661R	probably benign	Het
Akap1	A	T	11: 88,844,378	M486K	probably benign	Het
Arhgap40	T	A	2: 158,531,905	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,491,195	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135	H340L	probably benign	Het
Cd5	A	G	19: 10,726,386	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,900,937	E3032V	possibly damaging	Het
Cutc	G	T	19: 43,768,269	A267S	probably damaging	Het
Dmwd	A	G	7: 19,080,718	Q431R	probably damaging	Het
Dnah6	T	C	6: 73,065,755	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,373,348	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,710,634	I260T	probably benign	Het
Drd5	T	C	5: 38,320,584	F307L	probably damaging	Het
Dsc2	C	T	18: 20,046,243	S256N	probably damaging	Het
Dstyk	G	T	1: 132,455,896	E617*	probably null	Het
Dusp15	G	A	2: 152,945,476	H72Y	probably benign	Het
Dysf	C	T	6: 84,100,234	R660*	probably null	Het
Fbxl13	T	A	5: 21,522,148	I584L	probably benign	Het
Gm10354	T	C	5: 14,978,790	D29G	probably benign	Het
Gsap	T	C	5: 21,186,409	L16P	probably damaging	Het
Hgsnat	C	T	8: 25,945,199	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,181,671	T161A		Het
Hspg2	T	C	4: 137,550,373	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,527,919	P108S	probably benign	Het
Il17ra	A	T	6: 120,481,406	Y506F	probably damaging	Het
Il9r	T	A	11: 32,194,734	Q53L	probably benign	Het
Irf2bp2	C	T	8: 126,592,659	G260R	probably damaging	Het
Jdp2	T	A	12: 85,638,852	I129N	probably damaging	Het
Kif1b	T	C	4: 149,220,792		probably null	Het
Klrd1	A	G	6: 129,596,707	T120A	unknown	Het
Lfng	A	G	5: 140,612,528	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,752,067	E757G	probably damaging	Het
Ltn1	G	A	16: 87,420,323	P342L	probably damaging	Het
Lum	A	C	10: 97,568,876	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,184,027	R292*	probably null	Het
Nlrc4	T	C	17: 74,446,309	T360A	probably damaging	Het
Olfr1231	T	C	2: 89,303,383	I70V	probably benign	Het
Olfr850	T	C	9: 19,478,061	Y63C	probably damaging	Het
Palm2	C	A	4: 57,638,029	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,492,310	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,613,052	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,292,126	N349T	probably benign	Het
Poc1a	A	G	9: 106,349,829	Q420R		Het
Prl7d1	A	T	13: 27,714,337	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,956,300	M398I	probably benign	Het
Rapgef6	T	A	11: 54,679,377	V1192D	probably damaging	Het
Rif1	T	C	2: 52,111,958	V166A		Het
Robo4	T	C	9: 37,411,391	Y847H	probably damaging	Het
Sardh	T	C	2: 27,228,314	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,199	T553A	probably benign	Het
Serpina12	A	G	12: 104,035,717	Y247H	probably damaging	Het
Ston2	G	T	12: 91,648,502	D377E	possibly damaging	Het
Syne1	A	G	10: 5,333,023	S1557P	probably damaging	Het
Syt6	C	T	3: 103,575,453	R26W	possibly damaging	Het
Tep1	C	T	14: 50,829,227	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,679,023	T637A	possibly damaging	Het
Tnn	A	T	1: 160,086,077	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,440,137	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,268,970	V31A	possibly damaging	Het
Trpc7	G	T	13: 56,887,508	T204K	probably benign	Het
Urgcp	T	C	11: 5,717,996	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 12,260,663	I6K	probably benign	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
IGL02903:Cts7	APN	13	61356626	splice site	probably benign
IGL03351:Cts7	APN	13	61356603	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

Predicted Primers

PCR Primer
(F):5'- AGGATAAGATGAGCTTTCTGTCAAC -3'
(R):5'- GCCACATGCCTGTTCATCAG -3'

Sequencing Primer
(F):5'- GATGAGCTTTCTGTCAACATTTTC -3'
(R):5'- CATGCCTGTTCATCAGAATGTTGAG -3'

Posted On

2019-06-07