Mutagenetix > Incidental Mutation

Incidental Mutation 'R9084:Reck'

716077

Institutional Source

Beutler Lab

Gene Symbol

Reck

Ensembl Gene

ENSMUSG00000028476

Gene Name

reversion-inducing-cysteine-rich protein with kazal motifs

Synonyms

St15

MMRRC Submission

068903-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43875530-43944806 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 43922809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030198 (fasta)

Gene Model

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

AlphaFold

Q9Z0J1

Predicted Effect

probably benign
Transcript: ENSMUST00000030198

SMART Domains

Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,892,016 (GRCm39)	K93E	probably damaging	Het
Adam21	T	C	12: 81,606,160 (GRCm39)	Y534C	probably damaging	Het
Add1	A	G	5: 34,763,186 (GRCm39)	T125A	probably damaging	Het
Ank3	T	C	10: 69,786,879 (GRCm39)	V981A	probably benign	Het
Ankrd34b	T	A	13: 92,575,720 (GRCm39)	D317E	probably benign	Het
Arhgap9	T	C	10: 127,158,114 (GRCm39)	S44P	possibly damaging	Het
Atg7	T	C	6: 114,678,896 (GRCm39)	S370P	probably damaging	Het
Atp1b2	T	C	11: 69,492,388 (GRCm39)	D224G	probably damaging	Het
C1qtnf6	T	C	15: 78,409,283 (GRCm39)	Y188C	probably damaging	Het
Col22a1	T	C	15: 71,691,929 (GRCm39)	D1297G	unknown	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Csmd1	T	C	8: 16,138,325 (GRCm39)	I1576V	probably benign	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dusp6	T	C	10: 99,099,692 (GRCm39)	S47P	probably benign	Het
Fam163a	T	A	1: 155,955,730 (GRCm39)	I21F	probably damaging	Het
Fer1l5	A	G	1: 36,429,619 (GRCm39)	D457G	probably benign	Het
Fyn	C	T	10: 39,402,845 (GRCm39)	R206C	probably damaging	Het
Git2	G	T	5: 114,902,515 (GRCm39)	H172Q	probably damaging	Het
Gm21698	T	A	5: 26,190,244 (GRCm39)	H151L	probably damaging	Het
Gm4924	T	A	10: 82,213,953 (GRCm39)	C584S	unknown	Het
Hspb8	A	G	5: 116,560,492 (GRCm39)	L16P	probably benign	Het
Ipo9	T	C	1: 135,334,563 (GRCm39)	H282R	probably benign	Het
Kcnn1	GTCCTCCTCCTCCTCCTCCTC	GTCCTCCTCCTCCTCCTC	8: 71,307,810 (GRCm39)		probably benign	Het
Kmt2a	T	C	9: 44,740,130 (GRCm39)	D1871G	unknown	Het
Lrrk2	A	T	15: 91,634,469 (GRCm39)	Q1411L		Het
Med13	A	G	11: 86,191,621 (GRCm39)	S914P	probably damaging	Het
Med15	T	C	16: 17,471,072 (GRCm39)	H706R	probably damaging	Het
Mfsd2a	T	C	4: 122,843,994 (GRCm39)	Y325C	probably damaging	Het
Mrpl9	T	A	3: 94,354,558 (GRCm39)		probably benign	Het
Ncoa2	A	C	1: 13,244,653 (GRCm39)	S682A	probably damaging	Het
Nfe2l1	A	T	11: 96,710,957 (GRCm39)	M424K	probably damaging	Het
Nid1	T	C	13: 13,652,925 (GRCm39)		probably null	Het
Or1f19	T	G	16: 3,410,617 (GRCm39)	M119R	probably damaging	Het
Or4f7	A	G	2: 111,644,996 (GRCm39)	L25P	probably damaging	Het
Or4k15b	T	C	14: 50,271,916 (GRCm39)	I315V	probably benign	Het
Or6c69c	A	T	10: 129,910,941 (GRCm39)	M221L	probably benign	Het
Or6c69c	G	C	10: 129,910,969 (GRCm39)	S230T	probably benign	Het
Or6d15	C	T	6: 116,559,232 (GRCm39)	R225H	probably benign	Het
Or8g33	A	T	9: 39,337,521 (GRCm39)	V282E	probably damaging	Het
Pcnt	T	C	10: 76,235,826 (GRCm39)	D1385G	probably benign	Het
Pcx	A	G	19: 4,669,868 (GRCm39)	Y846C	probably damaging	Het
Prune2	A	G	19: 17,097,741 (GRCm39)	M1082V	probably damaging	Het
Ptprm	A	C	17: 67,263,948 (GRCm39)	V433G	possibly damaging	Het
Pvr	G	T	7: 19,650,937 (GRCm39)	Q196K	possibly damaging	Het
Ripk2	T	C	4: 16,123,795 (GRCm39)	D460G	probably damaging	Het
Ryr2	T	C	13: 11,616,724 (GRCm39)	D3898G	probably damaging	Het
Skint8	A	G	4: 111,794,210 (GRCm39)	H200R	probably benign	Het
Slamf1	A	T	1: 171,602,522 (GRCm39)	D83V	probably damaging	Het
Snx25	T	C	8: 46,521,203 (GRCm39)	*143W	probably null	Het
Spata31d1c	A	G	13: 65,182,959 (GRCm39)	D167G	probably benign	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Syne1	T	A	10: 5,289,240 (GRCm39)	D1420V	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tmem116	A	G	5: 121,627,387 (GRCm39)	S211G		Het
Tmprss6	C	T	15: 78,338,417 (GRCm39)	V310M	probably damaging	Het
Ttn	A	G	2: 76,612,722 (GRCm39)	I17119T	probably damaging	Het
Tubb1	T	A	2: 174,299,197 (GRCm39)	M293K	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Uncx	T	C	5: 139,529,753 (GRCm39)	M2T	possibly damaging	Het
Washc4	T	C	10: 83,422,499 (GRCm39)	F943L	possibly damaging	Het
Xkr9	G	A	1: 13,742,733 (GRCm39)	C6Y	probably benign	Het
Zfp458	A	T	13: 67,407,633 (GRCm39)	V74E	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
R4080:Reck	UTSW	4	43,942,293 (GRCm39)	missense	possibly damaging	0.95
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
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'- TGATGTTACCGCCCTGTTG -3'
(R):5'- GAGGCAGGAATGACTTACTTGC -3'

Sequencing Primer
(F):5'- GTCTTCGACCGCTTGAAGCTG -3'
(R):5'- CAGATAATACTGCCTCGGGATTTGC -3'

Posted On

2022-07-18