Mutagenetix > Incidental Mutation

Incidental Mutation 'R4080:Reck'

316798

Institutional Source

Beutler Lab

Gene Symbol

Reck

Ensembl Gene

ENSMUSG00000028476

Gene Name

reversion-inducing-cysteine-rich protein with kazal motifs

Synonyms

St15

MMRRC Submission

040856-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43875530-43944806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43942293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 853 (I853T)

Ref Sequence

ENSEMBL: ENSMUSP00000030198 (fasta)

Gene Model

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

AlphaFold

Q9Z0J1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030198
AA Change: I853T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: I853T

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: 98.7%
10x: 97.5%
20x: 95.9%

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
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adam7	T	C	14: 68,757,988 (GRCm39)	T245A	probably benign	Het
Adgrf3	G	A	5: 30,402,367 (GRCm39)	Q554*	probably null	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Aspm	C	A	1: 139,398,493 (GRCm39)	Q1024K	probably damaging	Het
C7	T	C	15: 5,019,946 (GRCm39)	S734G	probably benign	Het
Ccdc158	A	T	5: 92,771,255 (GRCm39)	S987T	probably benign	Het
Chrna2	C	A	14: 66,380,873 (GRCm39)	Y47*	probably null	Het
Chrna2	G	T	14: 66,380,866 (GRCm39)	G45V	probably benign	Het
Clec2g	C	A	6: 128,958,287 (GRCm39)	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,029,304 (GRCm39)	S253G	probably benign	Het
Cttn	T	A	7: 144,011,461 (GRCm39)	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,790,973 (GRCm39)	V286A	probably benign	Het
Dcbld2	T	A	16: 58,285,736 (GRCm39)	S632T	probably damaging	Het
Dscam	A	T	16: 96,484,972 (GRCm39)	N1118K	probably benign	Het
Eif2a	C	T	3: 58,447,050 (GRCm39)	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382 (GRCm39)	C1068S	probably benign	Het
Fstl1	G	A	16: 37,642,965 (GRCm39)	V110I	probably benign	Het
Gpat2	T	C	2: 127,275,542 (GRCm39)	I465T	probably damaging	Het
Gpr137	C	T	19: 6,917,791 (GRCm39)		probably benign	Het
Hgsnat	A	G	8: 26,436,371 (GRCm39)	I561T	probably benign	Het
Ift74	T	A	4: 94,541,149 (GRCm39)		probably null	Het
Ilf3	A	G	9: 21,314,430 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc41	C	A	4: 115,937,743 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,923 (GRCm39)	R700L	possibly damaging	Het
Myo16	A	G	8: 10,612,240 (GRCm39)	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,873,559 (GRCm39)	M1488V	probably benign	Het
Naip6	A	T	13: 100,435,815 (GRCm39)	Y903N	probably damaging	Het
Nek6	A	G	2: 38,440,649 (GRCm39)	H19R	probably damaging	Het
Nktr	A	C	9: 121,570,192 (GRCm39)	T127P	probably damaging	Het
Noc4l	A	T	5: 110,797,738 (GRCm39)	D335E	probably benign	Het
Nsd1	A	G	13: 55,449,622 (GRCm39)	D1993G	probably damaging	Het
Or1ad1	G	A	11: 50,875,683 (GRCm39)	D52N	probably damaging	Het
Or5h22	A	T	16: 58,894,619 (GRCm39)	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,908,583 (GRCm39)	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,832 (GRCm39)	D127V	probably damaging	Het
Phrf1	T	C	7: 140,839,633 (GRCm39)		probably benign	Het
Phtf2	T	A	5: 21,018,294 (GRCm39)	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,624,755 (GRCm39)	R1200L	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Prss12	A	G	3: 123,279,134 (GRCm39)	N404D	probably benign	Het
Ptch2	C	G	4: 116,968,403 (GRCm39)	A926G	probably damaging	Het
Ptpra	T	C	2: 30,333,317 (GRCm39)	F6L	probably damaging	Het
Reep6	G	A	10: 80,165,996 (GRCm39)		probably benign	Het
Rex2	T	A	4: 147,143,154 (GRCm39)	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,222 (GRCm39)	E55K	probably damaging	Het
Rtl6	T	C	15: 84,441,202 (GRCm39)	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,354,859 (GRCm39)	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,478,302 (GRCm39)	S505G	probably benign	Het
Scube1	T	G	15: 83,492,948 (GRCm39)	Q904P	probably damaging	Het
Sis	T	C	3: 72,828,517 (GRCm39)	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,648,329 (GRCm39)	E200G	probably damaging	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sybu	T	C	15: 44,582,339 (GRCm39)	K95R	probably damaging	Het
Trappc9	T	A	15: 72,813,796 (GRCm39)	D488V	probably damaging	Het
Txk	G	A	5: 72,858,006 (GRCm39)	P381S	probably damaging	Het
Ubr2	A	T	17: 47,299,648 (GRCm39)	M198K	probably benign	Het
Unc5a	A	T	13: 55,152,294 (GRCm39)	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,991,959 (GRCm39)	R231Q	probably damaging	Het
Wfdc1	T	A	8: 120,410,532 (GRCm39)		probably null	Het
Zfp667	T	G	7: 6,308,105 (GRCm39)	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het

Other mutations in Reck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Reck	APN	4	43,940,662 (GRCm39)	missense	probably damaging	1.00
IGL01569:Reck	APN	4	43,925,172 (GRCm39)	missense	probably benign	0.00
IGL02341:Reck	APN	4	43,925,160 (GRCm39)	missense	probably damaging	0.97
IGL02637:Reck	APN	4	43,898,009 (GRCm39)	missense	probably damaging	0.97
IGL02709:Reck	APN	4	43,913,791 (GRCm39)	missense	probably damaging	0.99
IGL02829:Reck	APN	4	43,891,014 (GRCm39)	missense	probably damaging	0.96
IGL02928:Reck	APN	4	43,912,078 (GRCm39)	missense	possibly damaging	0.47
IGL03132:Reck	APN	4	43,938,898 (GRCm39)	nonsense	probably null
PIT4453001:Reck	UTSW	4	43,895,850 (GRCm39)	missense	probably benign	0.00
R0066:Reck	UTSW	4	43,930,936 (GRCm39)	missense	probably damaging	0.97
R0066:Reck	UTSW	4	43,930,936 (GRCm39)	missense	probably damaging	0.97
R0607:Reck	UTSW	4	43,940,719 (GRCm39)	missense	probably benign	0.01
R0626:Reck	UTSW	4	43,930,295 (GRCm39)	missense	probably benign	0.00
R0894:Reck	UTSW	4	43,922,967 (GRCm39)	missense	probably damaging	1.00
R0932:Reck	UTSW	4	43,922,838 (GRCm39)	missense	possibly damaging	0.95
R1564:Reck	UTSW	4	43,912,061 (GRCm39)	missense	probably benign	0.00
R1633:Reck	UTSW	4	43,922,964 (GRCm39)	missense	possibly damaging	0.89
R1772:Reck	UTSW	4	43,890,982 (GRCm39)	missense	probably benign	0.00
R1968:Reck	UTSW	4	43,913,771 (GRCm39)	splice site	probably null
R2105:Reck	UTSW	4	43,943,195 (GRCm39)	missense	probably damaging	0.99
R2225:Reck	UTSW	4	43,922,837 (GRCm39)	missense	probably benign	0.01
R2302:Reck	UTSW	4	43,931,015 (GRCm39)	missense	probably benign	0.28
R2430:Reck	UTSW	4	43,930,202 (GRCm39)	missense	possibly damaging	0.88
R2655:Reck	UTSW	4	43,938,966 (GRCm39)	missense	probably benign	0.01
R3858:Reck	UTSW	4	43,930,261 (GRCm39)	missense	probably benign	0.13
R4027:Reck	UTSW	4	43,922,931 (GRCm39)	missense	probably damaging	1.00
R4028:Reck	UTSW	4	43,922,931 (GRCm39)	missense	probably damaging	1.00
R4029:Reck	UTSW	4	43,922,931 (GRCm39)	missense	probably damaging	1.00
R4497:Reck	UTSW	4	43,891,001 (GRCm39)	missense	probably benign
R4583:Reck	UTSW	4	43,931,062 (GRCm39)	critical splice donor site	probably null
R4702:Reck	UTSW	4	43,898,060 (GRCm39)	missense	probably damaging	1.00
R5934:Reck	UTSW	4	43,930,979 (GRCm39)	missense	probably damaging	1.00
R6114:Reck	UTSW	4	43,922,895 (GRCm39)	missense	probably damaging	1.00
R6235:Reck	UTSW	4	43,937,450 (GRCm39)	missense	probably damaging	1.00
R7895:Reck	UTSW	4	43,890,970 (GRCm39)	missense	probably benign	0.00
R7903:Reck	UTSW	4	43,927,166 (GRCm39)	missense	possibly damaging	0.49
R8047:Reck	UTSW	4	43,927,221 (GRCm39)	missense	probably damaging	1.00
R8477:Reck	UTSW	4	43,891,011 (GRCm39)	missense	probably benign	0.00
R8853:Reck	UTSW	4	43,912,089 (GRCm39)	missense	probably benign	0.15
R8912:Reck	UTSW	4	43,938,802 (GRCm39)	intron	probably benign
R9084:Reck	UTSW	4	43,922,809 (GRCm39)	splice site	probably benign
R9342:Reck	UTSW	4	43,943,301 (GRCm39)	missense	probably benign	0.04
R9553:Reck	UTSW	4	43,928,310 (GRCm39)	missense	probably damaging	1.00
X0062:Reck	UTSW	4	43,922,921 (GRCm39)	missense	probably damaging	1.00
X0067:Reck	UTSW	4	43,914,016 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAAAGCACTTCTGGTCAGC -3'
(R):5'- TAAACAGACAAGATGGCCGC -3'

Sequencing Primer
(F):5'- AAGCACTTCTGGTCAGCGTTAATTG -3'
(R):5'- GACAAGATGGCCGCACAGC -3'

Posted On

2015-05-15