Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Reck'

230852

Institutional Source

Beutler Lab

Gene Symbol

Reck

Ensembl Gene

ENSMUSG00000028476

Gene Name

reversion-inducing-cysteine-rich protein with kazal motifs

Synonyms

St15

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43875530-43944806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43943195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 916 (D916Y)

Ref Sequence

ENSEMBL: ENSMUSP00000030198 (fasta)

Gene Model

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

AlphaFold

Q9Z0J1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030198
AA Change: D916Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: D916Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130415

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		probably null	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
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
R5934:Reck	UTSW	4	43930979	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
R8047:Reck	UTSW	4	43927221	missense	probably damaging	1.00
R8477:Reck	UTSW	4	43891011	missense	probably benign	0.00
R8853:Reck	UTSW	4	43912089	missense	probably benign	0.15
R8912:Reck	UTSW	4	43938802	intron	probably benign
R9084:Reck	UTSW	4	43922809	splice site	probably benign
R9342:Reck	UTSW	4	43943301	missense	probably benign	0.04
R9553:Reck	UTSW	4	43928310	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'- AAGCCCATCGTTAGCAGTAG -3'
(R):5'- GTCTTTCACAAGGTGGACGG -3'

Sequencing Primer
(F):5'- GCTCTGGCTCGGACAGTAG -3'
(R):5'- AGGAAGGCTTTGCAGTTCCTCC -3'

Posted On

2014-09-18