Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Reck'

57473

Institutional Source

Beutler Lab

Gene Symbol

Reck

Ensembl Gene

ENSMUSG00000028476

Gene Name

reversion-inducing-cysteine-rich protein with kazal motifs

Synonyms

St15

MMRRC Submission

038815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0626 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

43875530-43944806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43930295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 623 (D623G)

Ref Sequence

ENSEMBL: ENSMUSP00000030198 (fasta)

Gene Model

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

AlphaFold

Q9Z0J1

Predicted Effect

probably benign
Transcript: ENSMUST00000030198
AA Change: D623G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: D623G

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: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,679,547 (GRCm39)		probably benign	Het
6430571L13Rik	T	A	9: 107,219,707 (GRCm39)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,527,736 (GRCm39)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,727,937 (GRCm39)	A85S	probably benign	Het
Acsl5	A	T	19: 55,272,904 (GRCm39)	M340L	probably benign	Het
Adam29	T	A	8: 56,324,612 (GRCm39)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,312,628 (GRCm39)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,312,441 (GRCm39)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,872,291 (GRCm39)	E510G	probably benign	Het
Angel1	A	G	12: 86,764,487 (GRCm39)		probably null	Het
Aox3	T	G	1: 58,211,458 (GRCm39)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,451,507 (GRCm39)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,066,193 (GRCm39)	D4387E	probably benign	Het
Apobr	T	C	7: 126,185,827 (GRCm39)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 68,203,108 (GRCm39)		probably null	Het
Aspm	G	T	1: 139,419,339 (GRCm39)	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,655,937 (GRCm39)	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,046,162 (GRCm39)		probably null	Het
Bach1	A	G	16: 87,526,359 (GRCm39)	D607G	possibly damaging	Het
Batf3	A	G	1: 190,832,935 (GRCm39)	D27G	probably damaging	Het
Baz1a	G	T	12: 55,022,055 (GRCm39)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,553,883 (GRCm39)	V86M	probably benign	Het
Birc7	A	G	2: 180,573,098 (GRCm39)	I172V	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,364,563 (GRCm39)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,612,520 (GRCm39)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,950,671 (GRCm39)	Y37H	probably benign	Het
Clasrp	A	T	7: 19,318,418 (GRCm39)		probably benign	Het
Clec2d	T	A	6: 129,160,090 (GRCm39)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,639,539 (GRCm39)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,349,422 (GRCm39)	D245V	probably benign	Het
Col5a1	T	A	2: 27,818,255 (GRCm39)	L160*	probably null	Het
Col6a6	T	C	9: 105,654,943 (GRCm39)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,951,490 (GRCm39)	H142Q	probably benign	Het
Cr2	A	C	1: 194,853,419 (GRCm39)	S20A	possibly damaging	Het
Ct45a	G	A	X: 55,590,399 (GRCm39)	P134L	probably benign	Het
Cyp2j5	A	T	4: 96,547,749 (GRCm39)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 130,703,811 (GRCm39)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,323,838 (GRCm39)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,368,509 (GRCm39)	S1709T	probably benign	Het
Dop1b	T	C	16: 93,560,844 (GRCm39)	V776A	probably damaging	Het
Emc3	T	C	6: 113,492,992 (GRCm39)	T220A	probably benign	Het
Entpd1	A	C	19: 40,715,769 (GRCm39)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,824,699 (GRCm39)	I229F	probably damaging	Het
Fancc	G	A	13: 63,465,205 (GRCm39)	P501S	probably damaging	Het
Fasn	T	C	11: 120,702,751 (GRCm39)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,819,302 (GRCm39)	I5012V	probably benign	Het
Glce	T	C	9: 61,968,282 (GRCm39)	T290A	probably benign	Het
Gns	G	A	10: 121,219,349 (GRCm39)		probably null	Het
Gsdma2	A	G	11: 98,542,810 (GRCm39)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,415,887 (GRCm39)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,674,470 (GRCm39)		probably null	Het
Jup	A	T	11: 100,267,589 (GRCm39)	M578K	probably benign	Het
Kir3dl1	G	A	X: 135,434,594 (GRCm39)		probably null	Het
Krt75	A	G	15: 101,482,025 (GRCm39)	F81S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Maged2	T	A	X: 149,594,830 (GRCm39)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,333,382 (GRCm39)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm39)	V74G	possibly damaging	Het
Naca	A	G	10: 127,877,031 (GRCm39)		probably benign	Het
Nav3	T	G	10: 109,659,325 (GRCm39)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,257,099 (GRCm39)	T293S	probably benign	Het
Numb	A	G	12: 83,842,614 (GRCm39)	Y510H	probably damaging	Het
Nynrin	T	G	14: 56,105,492 (GRCm39)	L834R	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2ak5	G	T	11: 58,611,347 (GRCm39)	H176N	probably benign	Het
Or8g18	T	A	9: 39,149,162 (GRCm39)	N186I	possibly damaging	Het
Otog	T	C	7: 45,920,797 (GRCm39)	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 24,996,554 (GRCm39)	V43A	possibly damaging	Het
Pcnx1	A	G	12: 82,030,450 (GRCm39)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 101,564,437 (GRCm39)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,111,765 (GRCm39)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,152,329 (GRCm39)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,794,549 (GRCm39)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,764,075 (GRCm39)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,087,359 (GRCm39)	R16*	probably null	Het
Polm	C	A	11: 5,786,207 (GRCm39)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,767,721 (GRCm39)	M1T	probably null	Het
Ptprh	G	A	7: 4,567,271 (GRCm39)	L534F	probably benign	Het
Rabl6	C	T	2: 25,482,778 (GRCm39)		probably null	Het
Rap2a	A	G	14: 120,716,403 (GRCm39)	S89G	probably damaging	Het
Rara	A	T	11: 98,862,406 (GRCm39)		probably null	Het
Relt	A	T	7: 100,498,023 (GRCm39)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm39)		probably null	Het
Rtn4rl2	T	G	2: 84,710,763 (GRCm39)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,738,505 (GRCm39)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,435,495 (GRCm39)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,158,241 (GRCm39)	M107K	probably benign	Het
Smg1	T	C	7: 117,781,606 (GRCm39)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,063,734 (GRCm39)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,506,179 (GRCm39)	S465P	probably benign	Het
Sp4	A	G	12: 118,263,314 (GRCm39)	L244P	probably damaging	Het
Sulf1	A	G	1: 12,887,716 (GRCm39)		probably null	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Tbx10	C	A	19: 4,047,873 (GRCm39)	D206E	probably benign	Het
Tcea2	C	T	2: 181,329,431 (GRCm39)	P275S	probably damaging	Het
Tns3	C	A	11: 8,443,121 (GRCm39)	R414L	probably benign	Het
Trip11	T	C	12: 101,852,235 (GRCm39)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 87,073,720 (GRCm39)	K213R	probably null	Het
Unc80	A	G	1: 66,647,601 (GRCm39)	S1514G	probably benign	Het
Usp7	G	T	16: 8,511,778 (GRCm39)	Q867K	possibly damaging	Het
Vim	T	C	2: 13,579,463 (GRCm39)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,450,007 (GRCm39)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,610,517 (GRCm39)	Y58*	probably null	Het
Wdr36	C	A	18: 32,983,584 (GRCm39)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,532,359 (GRCm39)	W465R	probably damaging	Het
Zscan4d	T	A	7: 10,898,946 (GRCm39)	R110S	probably damaging	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
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
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'- cctgTGGTCTGTGTCTCGGTATGTAA -3'
(R):5'- GGCTTCACATGAACACATCTACTCCTT -3'

Sequencing Primer
(F):5'- CTCGGTATGTAATGTAACTGACG -3'
(R):5'- TTAATAGGTGTCTCCAGACCCAG -3'

Posted On

2013-07-11