Mutagenetix > Incidental Mutations

Incidental Mutation 'R7487:Cst7'

580226

Institutional Source

Beutler Lab

Gene Symbol

Cst7

Ensembl Gene

ENSMUSG00000068129

Gene Name

cystatin F (leukocystatin)

Synonyms

cystatin-like metastasis-associated protein, CMAP, Leukocystatin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7487 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150570415-150578944 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150577704 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 97 (T97A)

Ref Sequence

ENSEMBL: ENSMUSP00000086606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089200]

Predicted Effect

probably benign
Transcript: ENSMUST00000089200
AA Change: T97A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086606
Gene: ENSMUSG00000068129
AA Change: T97A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CY	33	144	1.04e-22	SMART

Meta Mutation Damage Score

0.1686

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (89/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,066,868	D606V	probably damaging	Het
1700009N14Rik	T	A	4: 39,450,929	V45E	probably damaging	Het
2510009E07Rik	C	T	16: 21,653,729	V74M	probably damaging	Het
Abca2	C	T	2: 25,437,903	T739M	probably benign	Het
Abra	T	C	15: 41,869,553	E39G	probably damaging	Het
Adam34	A	T	8: 43,651,154	C485S	probably damaging	Het
Add2	G	T	6: 86,093,450	V175F	possibly damaging	Het
Alk	T	A	17: 71,949,898	K655N	probably benign	Het
Ap3m1	A	G	14: 21,038,039	V317A	probably benign	Het
Astn1	A	G	1: 158,610,782		probably null	Het
Atm	A	T	9: 53,524,354	Y219N	probably benign	Het
Cep128	C	T	12: 90,999,630	A1068T	probably benign	Het
Cnksr3	T	C	10: 7,135,097	Q250R	probably benign	Het
Ctps	G	A	4: 120,558,800	L209F	probably damaging	Het
Cyp2d10	A	T	15: 82,404,592	F230I	probably benign	Het
Daam2	T	C	17: 49,486,482	N336D	probably benign	Het
Dchs2	T	C	3: 83,356,306	S3294P	probably damaging	Het
Dhx36	G	T	3: 62,484,202	N574K	possibly damaging	Het
Dock10	G	T	1: 80,585,048	Q533K	probably benign	Het
Dync2h1	A	G	9: 7,132,041	S1589P	probably benign	Het
Enpp3	T	A	10: 24,805,923	Y295F	probably benign	Het
Esrrg	T	A	1: 188,146,423	Y234N	probably benign	Het
Fadd	A	C	7: 144,580,725	V141G	probably damaging	Het
Fam114a2	C	T	11: 57,513,689	G83D	probably damaging	Het
Fam170b	T	A	14: 32,835,819	C204S	probably damaging	Het
Fam186a	T	A	15: 99,942,136	I2076F	possibly damaging	Het
Fdxacb1	G	A	9: 50,770,219	V147I	possibly damaging	Het
Fopnl	T	C	16: 14,311,104	D85G	probably benign	Het
Frem2	C	A	3: 53,654,549	V846F	probably benign	Het
Fry	G	A	5: 150,414,574	S1449N	possibly damaging	Het
Gucy1b2	A	G	14: 62,448,223	F98L	probably damaging	Het
Hps1	T	C	19: 42,756,261	Y658C	probably damaging	Het
Igkv3-9	T	A	6: 70,588,522	L35Q	probably damaging	Het
Irx2	A	G	13: 72,630,620	Y101C	probably damaging	Het
Kcnj11	G	T	7: 46,098,841	R353S	probably benign	Het
Kyat3	C	T	3: 142,726,194	Q228*	probably null	Het
Lama3	T	A	18: 12,419,237	D415E	probably benign	Het
Lcn3	G	A	2: 25,766,162		probably null	Het
Lin7b	T	C	7: 45,369,940	E68G	possibly damaging	Het
Lmbr1	T	A	5: 29,254,264	K379M	probably benign	Het
Lrig1	A	G	6: 94,606,118	S1006P	probably benign	Het
Lrrc37a	T	G	11: 103,498,219	T2127P	unknown	Het
Map4	A	G	9: 110,027,715	D151G	probably damaging	Het
March1	A	T	8: 66,456,074	T149S	probably benign	Het
Msh4	A	T	3: 153,863,510	F809I	probably damaging	Het
Muc16	G	A	9: 18,584,799	P6699S	possibly damaging	Het
Mxi1	A	T	19: 53,371,657	D270V	probably damaging	Het
Myh6	A	T	14: 54,953,496	C907*	probably null	Het
Myo18b	T	C	5: 112,834,433	R1145G	possibly damaging	Het
Nkx2-6	A	C	14: 69,171,940	N47H	probably benign	Het
Nol7	G	A	13: 43,398,600	A66T	probably damaging	Het
Ntrk3	T	C	7: 78,250,713	N626S	probably damaging	Het
Nwd1	A	G	8: 72,666,638	Y77C	unknown	Het
Olfr1057	A	T	2: 86,375,131	Y94N	probably damaging	Het
Olfr109	G	T	17: 37,466,566	R120L	probably damaging	Het
Olfr1413	G	A	1: 92,573,795	G208D	possibly damaging	Het
Olfr358	A	C	2: 37,004,774	V280G	probably damaging	Het
Olfr892-ps1	A	G	9: 38,190,060	S112G	probably damaging	Het
Otop3	A	G	11: 115,345,000	D486G	probably benign	Het
Pak1ip1	A	G	13: 41,009,255	K178R	probably benign	Het
Pcsk1	G	A	13: 75,110,883	G259S	probably benign	Het
Pde6a	A	G	18: 61,249,960	D338G	probably damaging	Het
Pias4	A	T	10: 81,163,972	D82E	probably benign	Het
Plekha5	C	A	6: 140,570,333	Q771K	probably benign	Het
Plekhh3	C	A	11: 101,165,579	A397S	possibly damaging	Het
Prg4	G	T	1: 150,455,905	T339N	unknown	Het
Prss22	A	T	17: 23,997,997	I3N	probably damaging	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Rspo2	T	C	15: 43,078,114	T138A	probably benign	Het
Rtcb	C	T	10: 85,953,469	G70S	probably benign	Het
Selenov	A	T	7: 28,290,378	S234T	probably damaging	Het
Shtn1	T	C	19: 59,003,860	T429A	probably damaging	Het
Slc4a3	G	T	1: 75,553,377	R622L	probably benign	Het
Smc2	T	C	4: 52,478,448	I1015T	probably damaging	Het
Spata9	G	T	13: 75,967,840	V3F	possibly damaging	Het
Tlr4	T	C	4: 66,924,422	I105T	probably benign	Het
Trav6d-4	A	T	14: 52,753,639	Y47F	possibly damaging	Het
Ttn	A	T	2: 76,827,033	I12450N	unknown	Het
Umad1	G	T	6: 8,270,560	A21S	probably damaging	Het
Unc5a	G	A	13: 54,996,549	R229H	probably benign	Het
Vmn1r216	A	T	13: 23,099,860	M238L	probably damaging	Het
Vps16	T	A	2: 130,439,057	C255*	probably null	Het
Wdr89	A	G	12: 75,632,614	F289L	probably benign	Het
Zfp180	A	T	7: 24,106,100	H648L	probably damaging	Het
Zfp735	A	G	11: 73,690,328	K64E	possibly damaging	Het
Zfp990	G	A	4: 145,537,587	C385Y	probably damaging	Het
Zswim3	G	T	2: 164,820,215	S205I	probably damaging	Het

Other mutations in Cst7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0166:Cst7	UTSW	2	150575727	missense	probably benign	0.01
R0530:Cst7	UTSW	2	150570515	start gained	probably benign
R0606:Cst7	UTSW	2	150570519	start codon destroyed	probably benign	0.08
R0620:Cst7	UTSW	2	150575886	splice site	probably benign
R1856:Cst7	UTSW	2	150577708	missense	probably damaging	1.00
R5556:Cst7	UTSW	2	150570568	missense	probably benign
R7315:Cst7	UTSW	2	150570583	missense	probably benign	0.00
R7509:Cst7	UTSW	2	150577704	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAACTTGCCTCCCCAGTACTC -3'
(R):5'- GTCAGGTGGCATAGGTCATG -3'

Sequencing Primer
(F):5'- AGTACTCTCCTTACCTGCTTTAAGAC -3'
(R):5'- AACCCTGTGTCCCTCGAGAG -3'

Posted On

2019-10-07