Mutagenetix > Incidental Mutations

Incidental Mutation 'R5934:Reck'

462081

Institutional Source

Beutler Lab

Gene Symbol

Reck

Ensembl Gene

ENSMUSG00000028476

Gene Name

reversion-inducing-cysteine-rich protein with kazal motifs

Synonyms

St15

MMRRC Submission

044128-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43875530-43944806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43930979 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 660 (G660D)

Ref Sequence

ENSEMBL: ENSMUSP00000030198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030198]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030198
AA Change: G660D

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

SMART Domains

Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: G660D

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
KAZAL	632	671	1.18e-2	SMART
KAZAL	708	750	1.46e-2	SMART
KAZAL	753	787	4.26e-2	SMART
low complexity region	877	890	N/A	INTRINSIC
low complexity region	927	946	N/A	INTRINSIC
low complexity region	950	967	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128463

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10.5-E11.5, defects in collagen fibrils, basal lamina and vascular development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,930,806	V596A	probably benign	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Afg1l	G	A	10: 42,318,686	T370M	probably damaging	Het
Aldh2	T	C	5: 121,579,615	T118A	probably benign	Het
Apcdd1	C	T	18: 62,951,869	A379V	possibly damaging	Het
Atp1a3	T	C	7: 24,978,874		probably benign	Het
Cd96	G	T	16: 46,117,903	D66E	probably benign	Het
Cdh5	T	A	8: 104,138,268	V506E	probably benign	Het
Cep70	T	C	9: 99,254,265	I7T	probably benign	Het
Ckb	A	T	12: 111,670,229	V237D	probably damaging	Het
Col6a6	C	T	9: 105,767,075	D1306N	probably damaging	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
D1Ertd622e	A	T	1: 97,645,930	C137S	possibly damaging	Het
Ddhd2	A	G	8: 25,753,113	S19P	probably damaging	Het
Dnah17	G	T	11: 118,041,102	D3681E	probably benign	Het
Dopey1	T	A	9: 86,542,442	Y2068*	probably null	Het
Fam26e	A	G	10: 34,092,202	V285A	possibly damaging	Het
Fryl	T	C	5: 73,090,717	Y1019C	probably damaging	Het
Fsip2	G	A	2: 82,986,748	C4275Y	possibly damaging	Het
Gapdh	A	G	6: 125,162,701	V202A	probably damaging	Het
Gm8394	T	C	10: 85,314,281		noncoding transcript	Het
Gmeb2	T	C	2: 181,255,574	I250M	possibly damaging	Het
Gpr88	C	T	3: 116,252,309	G118R	probably damaging	Het
Hdhd3	C	A	4: 62,499,370	V190L	possibly damaging	Het
Heg1	C	T	16: 33,726,919	T461M	probably damaging	Het
Hspg2	A	G	4: 137,518,772	Y989C	probably damaging	Het
Ift74	A	T	4: 94,632,734	M175L	probably benign	Het
Kcnh3	G	A	15: 99,226,533	R101Q	possibly damaging	Het
Kif20b	G	T	19: 34,941,321	V702F	probably benign	Het
Klhl1	A	G	14: 96,123,215		probably null	Het
Lrrk2	T	C	15: 91,734,046	V916A	probably benign	Het
Mpp4	A	T	1: 59,121,376	D589E	probably damaging	Het
Msl2	T	C	9: 101,101,818	C464R	probably damaging	Het
Mucl2	A	T	15: 103,897,566	S42T	probably benign	Het
Musk	T	A	4: 58,373,613	L838Q	probably damaging	Het
Nos1	A	G	5: 117,936,445	H1052R	probably damaging	Het
Olfr1151	T	C	2: 87,857,241	V22A	probably benign	Het
Olfr1420	A	G	19: 11,896,929	R303G	probably benign	Het
Olfr352	T	A	2: 36,870,268	I234N	probably benign	Het
Olfr463	T	C	11: 87,893,223	R234G	possibly damaging	Het
Olfr52	T	A	2: 86,182,102	Q3L	probably benign	Het
Olfr521	A	T	7: 99,767,389	I76F	probably damaging	Het
Olfr672	C	A	7: 104,996,178	C242F	probably damaging	Het
Olfr683	G	A	7: 105,143,660	S211F	probably benign	Het
Olfr960	C	T	9: 39,623,183	T20I	probably damaging	Het
Pard3	T	G	8: 127,389,338	L636R	probably damaging	Het
Pigr	A	T	1: 130,844,527	S161C	probably damaging	Het
Polr1e	T	C	4: 45,029,369	S325P	probably damaging	Het
Prrc2a	A	T	17: 35,150,084	V1992E	probably damaging	Het
Ptpdc1	T	C	13: 48,586,369	K468E	probably benign	Het
Rab22a	A	G	2: 173,661,504	T37A	probably damaging	Het
Rai14	T	A	15: 10,575,159	K571I	probably damaging	Het
Rgs4	T	C	1: 169,745,238	D43G	possibly damaging	Het
Ryr2	A	T	13: 11,584,154	D4645E	probably damaging	Het
Sf3b3	A	G	8: 110,823,470	S639P	probably damaging	Het
Slc27a4	G	T	2: 29,811,660	R430L	probably damaging	Het
Slfn1	T	A	11: 83,121,944	Y295*	probably null	Het
Slfn5	C	T	11: 82,956,592	S101L	probably damaging	Het
Sult1d1	CCATG	CCATGGCATG	5: 87,559,770		probably null	Het
Tchh	A	T	3: 93,444,112	Q286H	unknown	Het
Tmem184c	A	T	8: 77,604,723	Y172*	probably null	Het
Tsc22d1	T	G	14: 76,418,826	M833R	possibly damaging	Het
Ugt1a7c	G	T	1: 88,095,879	L253F	probably damaging	Het
Usp19	C	T	9: 108,492,567		probably benign	Het
Xirp2	T	A	2: 67,524,804	I3303K	possibly damaging	Het
Zfp574	G	A	7: 25,080,332	A260T	probably benign	Het
Zswim6	A	G	13: 107,744,107		noncoding transcript	Het

Other mutations in Reck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Reck	APN	4	43940662	missense	probably damaging	1.00
IGL01569:Reck	APN	4	43925172	missense	probably benign	0.00
IGL02341:Reck	APN	4	43925160	missense	probably damaging	0.97
IGL02637:Reck	APN	4	43898009	missense	probably damaging	0.97
IGL02709:Reck	APN	4	43913791	missense	probably damaging	0.99
IGL02829:Reck	APN	4	43891014	missense	probably damaging	0.96
IGL02928:Reck	APN	4	43912078	missense	possibly damaging	0.47
IGL03132:Reck	APN	4	43938898	nonsense	probably null
PIT4453001:Reck	UTSW	4	43895850	missense	probably benign	0.00
R0066:Reck	UTSW	4	43930936	missense	probably damaging	0.97
R0066:Reck	UTSW	4	43930936	missense	probably damaging	0.97
R0607:Reck	UTSW	4	43940719	missense	probably benign	0.01
R0626:Reck	UTSW	4	43930295	missense	probably benign	0.00
R0894:Reck	UTSW	4	43922967	missense	probably damaging	1.00
R0932:Reck	UTSW	4	43922838	missense	possibly damaging	0.95
R1564:Reck	UTSW	4	43912061	missense	probably benign	0.00
R1633:Reck	UTSW	4	43922964	missense	possibly damaging	0.89
R1772:Reck	UTSW	4	43890982	missense	probably benign	0.00
R1968:Reck	UTSW	4	43913771	splice site	probably null
R2105:Reck	UTSW	4	43943195	missense	probably damaging	0.99
R2225:Reck	UTSW	4	43922837	missense	probably benign	0.01
R2302:Reck	UTSW	4	43931015	missense	probably benign	0.28
R2430:Reck	UTSW	4	43930202	missense	possibly damaging	0.88
R2655:Reck	UTSW	4	43938966	missense	probably benign	0.01
R3858:Reck	UTSW	4	43930261	missense	probably benign	0.13
R4027:Reck	UTSW	4	43922931	missense	probably damaging	1.00
R4028:Reck	UTSW	4	43922931	missense	probably damaging	1.00
R4029:Reck	UTSW	4	43922931	missense	probably damaging	1.00
R4080:Reck	UTSW	4	43942293	missense	possibly damaging	0.95
R4497:Reck	UTSW	4	43891001	missense	probably benign
R4583:Reck	UTSW	4	43931062	critical splice donor site	probably null
R4702:Reck	UTSW	4	43898060	missense	probably damaging	1.00
R6114:Reck	UTSW	4	43922895	missense	probably damaging	1.00
R6235:Reck	UTSW	4	43937450	missense	probably damaging	1.00
R7895:Reck	UTSW	4	43890970	missense	probably benign	0.00
R7903:Reck	UTSW	4	43927166	missense	possibly damaging	0.49
R7978:Reck	UTSW	4	43890970	missense	probably benign	0.00
R7986:Reck	UTSW	4	43927166	missense	possibly damaging	0.49
R8047:Reck	UTSW	4	43927221	missense	probably damaging	1.00
X0062:Reck	UTSW	4	43922921	missense	probably damaging	1.00
X0067:Reck	UTSW	4	43914016	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAAAGGAATGCCGTGCTG -3'
(R):5'- AGACTACTTCTCAGCCCATTCATG -3'

Sequencing Primer
(F):5'- CCGTGCTGCAGAAAGAGCTTTTC -3'
(R):5'- AGCCCATTCATGCTTTCATCCTCTAG -3'

Posted On

2017-02-28