Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Edil3'

219290

Institutional Source

Beutler Lab

Gene Symbol

Edil3

Ensembl Gene

ENSMUSG00000034488

Gene Name

EGF-like repeats and discoidin I-like domains 3

Synonyms

Del-1, Del1, developmental endothelial locus-1

MMRRC Submission

040017-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88969591-89471342 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 89093072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043111] [ENSMUST00000043111] [ENSMUST00000043111] [ENSMUST00000043111] [ENSMUST00000081769] [ENSMUST00000081769] [ENSMUST00000118731] [ENSMUST00000118731]

AlphaFold

O35474

Predicted Effect

probably null
Transcript: ENSMUST00000043111

SMART Domains

Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	60	2.03e-6	SMART
EGF	67	107	1.62e-5	SMART
EGF_CA	109	145	4.32e-10	SMART
FA58C	147	304	3.7e-58	SMART
FA58C	308	466	1.44e-37	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000043111

SMART Domains

Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	60	2.03e-6	SMART
EGF	67	107	1.62e-5	SMART
EGF_CA	109	145	4.32e-10	SMART
FA58C	147	304	3.7e-58	SMART
FA58C	308	466	1.44e-37	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000043111

SMART Domains

Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	60	2.03e-6	SMART
EGF	67	107	1.62e-5	SMART
EGF_CA	109	145	4.32e-10	SMART
FA58C	147	304	3.7e-58	SMART
FA58C	308	466	1.44e-37	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000043111

SMART Domains

Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	60	2.03e-6	SMART
EGF	67	107	1.62e-5	SMART
EGF_CA	109	145	4.32e-10	SMART
FA58C	147	304	3.7e-58	SMART
FA58C	308	466	1.44e-37	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000081769

SMART Domains

Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	60	2.03e-6	SMART
EGF	77	117	1.62e-5	SMART
EGF_CA	119	155	4.32e-10	SMART
FA58C	157	314	3.7e-58	SMART
FA58C	318	476	1.44e-37	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000081769

SMART Domains

Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	60	2.03e-6	SMART
EGF	77	117	1.62e-5	SMART
EGF_CA	119	155	4.32e-10	SMART
FA58C	157	314	3.7e-58	SMART
FA58C	318	476	1.44e-37	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118731

SMART Domains

Protein: ENSMUSP00000112829
Gene: ENSMUSG00000034488

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	60	2.03e-6	SMART
EGF	77	117	1.62e-5	SMART
EGF_CA	119	155	4.32e-10	SMART
FA58C	157	314	3.7e-58	SMART
SCOP:d1d7pm_	316	380	4e-20	SMART
Blast:FA58C	319	380	2e-9	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000118731

SMART Domains

Protein: ENSMUSP00000112829
Gene: ENSMUSG00000034488

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	60	2.03e-6	SMART
EGF	77	117	1.62e-5	SMART
EGF_CA	119	155	4.32e-10	SMART
FA58C	157	314	3.7e-58	SMART
SCOP:d1d7pm_	316	380	4e-20	SMART
Blast:FA58C	319	380	2e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153974

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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 an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no noticeable fur phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly damaging	Het

Other mutations in Edil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Edil3	APN	13	89,437,652 (GRCm39)	missense	probably benign	0.40
IGL01628:Edil3	APN	13	89,467,945 (GRCm39)	utr 3 prime	probably benign
IGL02112:Edil3	APN	13	89,328,374 (GRCm39)	missense	probably damaging	1.00
IGL03123:Edil3	APN	13	89,279,855 (GRCm39)	missense	probably damaging	1.00
R0402:Edil3	UTSW	13	89,347,570 (GRCm39)	splice site	probably benign
R0608:Edil3	UTSW	13	89,332,968 (GRCm39)	missense	probably damaging	1.00
R0675:Edil3	UTSW	13	89,325,399 (GRCm39)	missense	probably damaging	0.96
R0735:Edil3	UTSW	13	89,325,297 (GRCm39)	missense	probably damaging	0.97
R0991:Edil3	UTSW	13	89,437,625 (GRCm39)	nonsense	probably null
R1507:Edil3	UTSW	13	89,279,831 (GRCm39)	missense	probably damaging	1.00
R1643:Edil3	UTSW	13	89,437,695 (GRCm39)	critical splice donor site	probably null
R3703:Edil3	UTSW	13	89,325,417 (GRCm39)	missense	probably benign	0.01
R4206:Edil3	UTSW	13	89,328,397 (GRCm39)	missense	probably damaging	1.00
R4258:Edil3	UTSW	13	89,325,272 (GRCm39)	missense	probably damaging	1.00
R4570:Edil3	UTSW	13	89,280,016 (GRCm39)	intron	probably benign
R4575:Edil3	UTSW	13	89,467,850 (GRCm39)	missense	probably damaging	1.00
R4576:Edil3	UTSW	13	89,467,850 (GRCm39)	missense	probably damaging	1.00
R4654:Edil3	UTSW	13	89,437,589 (GRCm39)	missense	probably damaging	1.00
R5420:Edil3	UTSW	13	89,279,891 (GRCm39)	missense	probably damaging	1.00
R5446:Edil3	UTSW	13	89,332,957 (GRCm39)	missense	possibly damaging	0.65
R5534:Edil3	UTSW	13	89,347,593 (GRCm39)	missense	probably benign	0.00
R5653:Edil3	UTSW	13	89,279,931 (GRCm39)	missense	probably damaging	1.00
R5663:Edil3	UTSW	13	89,190,627 (GRCm39)	missense	probably damaging	0.99
R5664:Edil3	UTSW	13	89,467,832 (GRCm39)	missense	probably damaging	1.00
R6179:Edil3	UTSW	13	88,970,108 (GRCm39)	missense	probably benign
R6254:Edil3	UTSW	13	89,467,848 (GRCm39)	missense	probably damaging	1.00
R6813:Edil3	UTSW	13	89,437,575 (GRCm39)	missense	probably damaging	1.00
R7138:Edil3	UTSW	13	89,279,847 (GRCm39)	missense	probably damaging	1.00
R7215:Edil3	UTSW	13	88,970,169 (GRCm39)	critical splice donor site	probably null
R7295:Edil3	UTSW	13	89,279,902 (GRCm39)	nonsense	probably null
R9490:Edil3	UTSW	13	89,347,591 (GRCm39)	missense	probably benign	0.00
Z1176:Edil3	UTSW	13	89,092,989 (GRCm39)	missense	probably benign	0.19
Z1177:Edil3	UTSW	13	88,970,131 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTGAACTGGTTGGTATTTCAATCC -3'
(R):5'- GTGGCAATCACTAAACTAGGAACTATC -3'

Sequencing Primer
(F):5'- TGGTTGGTATTTCAATCCTAAAACAG -3'
(R):5'- GAAGATAAGCTCAAACCGATA -3'

Posted On

2014-08-25