Mutagenetix > Incidental Mutation

Incidental Mutation 'R5664:Edil3'

444289

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

043307-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88969591-89471342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89467832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 446 (V446F)

Ref Sequence

ENSEMBL: ENSMUSP00000080462 (fasta)

Gene Model

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

AlphaFold

O35474

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043111
AA Change: V436F

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488
AA Change: V436F

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 damaging
Transcript: ENSMUST00000081769
AA Change: V446F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488
AA Change: V446F

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,325,977 (GRCm39)		probably null	Het
9430015G10Rik	T	A	4: 156,208,016 (GRCm39)	L112H	probably damaging	Het
Acaca	T	C	11: 84,134,210 (GRCm39)	L441P	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arsj	A	T	3: 126,232,306 (GRCm39)	I351F	probably damaging	Het
Atp6v1b2	A	G	8: 69,560,272 (GRCm39)	T373A	probably damaging	Het
Atr	C	A	9: 95,787,866 (GRCm39)	N1486K	probably benign	Het
Avl9	T	C	6: 56,730,824 (GRCm39)	S583P	probably damaging	Het
Bptf	A	T	11: 106,964,525 (GRCm39)	D1493E	probably benign	Het
Brme1	A	T	8: 84,893,288 (GRCm39)	I152F	probably benign	Het
C2cd2l	T	C	9: 44,225,069 (GRCm39)	E548G	probably damaging	Het
Capn3	G	A	2: 120,307,506 (GRCm39)	R15Q	probably benign	Het
Ccl3	A	G	11: 83,540,039 (GRCm39)	F22S	probably benign	Het
Clcf1	T	C	19: 4,272,150 (GRCm39)	F69S	probably damaging	Het
Col13a1	T	C	10: 61,686,895 (GRCm39)	E170G	probably damaging	Het
Dhx29	T	A	13: 113,083,413 (GRCm39)	F489L	probably damaging	Het
Dhx8	A	T	11: 101,631,577 (GRCm39)	N390I	probably damaging	Het
Dkk1	T	A	19: 30,526,189 (GRCm39)	Y135F	probably benign	Het
Epha5	T	A	5: 84,479,725 (GRCm39)	E93V	probably damaging	Het
Epsti1	C	T	14: 78,201,104 (GRCm39)	T196I	possibly damaging	Het
Fras1	T	C	5: 96,876,394 (GRCm39)	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,559,911 (GRCm39)	V1532A	probably benign	Het
Fsip2	T	A	2: 82,818,439 (GRCm39)	M4724K	probably benign	Het
Gcat	T	A	15: 78,927,273 (GRCm39)	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,679,209 (GRCm39)	K276E	probably benign	Het
Gjb5	T	A	4: 127,249,722 (GRCm39)	I141F	probably benign	Het
Glt6d1	T	C	2: 25,704,192 (GRCm39)	I7V	probably benign	Het
Gtf2h5	G	A	17: 6,134,799 (GRCm39)	G30R	probably damaging	Het
Herc6	C	A	6: 57,595,669 (GRCm39)	T449K	probably benign	Het
Hpn	A	T	7: 30,798,687 (GRCm39)	Y132N	probably damaging	Het
Hpx	A	T	7: 105,244,355 (GRCm39)	M190K	probably benign	Het
Inf2	A	G	12: 112,578,162 (GRCm39)	H1151R	unknown	Het
Krt74	A	G	15: 101,669,014 (GRCm39)		noncoding transcript	Het
Loxl3	G	A	6: 83,026,863 (GRCm39)	S564N	probably benign	Het
Map7	T	A	10: 20,143,105 (GRCm39)	V418E	unknown	Het
Mrpl37	T	C	4: 106,921,588 (GRCm39)	N214D	probably benign	Het
Mthfr	T	C	4: 148,139,923 (GRCm39)	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,812,526 (GRCm39)	D2099G	probably benign	Het
Nktr	T	A	9: 121,578,483 (GRCm39)	C825*	probably null	Het
Nomo1	A	G	7: 45,725,581 (GRCm39)	E1029G	probably benign	Het
Nup133	T	C	8: 124,633,020 (GRCm39)	D1037G	probably benign	Het
Or4b12	A	G	2: 90,095,959 (GRCm39)	F272L	probably damaging	Het
Or5w22	T	C	2: 87,363,178 (GRCm39)	L267P	probably benign	Het
Pcdhb14	T	A	18: 37,582,049 (GRCm39)	V385D	possibly damaging	Het
Pik3c2g	T	C	6: 139,682,733 (GRCm39)	L38P	probably damaging	Het
Pkd1	A	T	17: 24,788,345 (GRCm39)	D701V	probably damaging	Het
Pnpla6	A	G	8: 3,587,478 (GRCm39)	T1070A	probably damaging	Het
Ppl	T	C	16: 4,923,919 (GRCm39)	D185G	probably benign	Het
Prp2rt	C	A	13: 97,235,629 (GRCm39)	L39F	probably damaging	Het
Prss1l	C	T	6: 41,371,605 (GRCm39)	P17L	probably benign	Het
Prune1	A	T	3: 95,165,489 (GRCm39)	L261Q	probably damaging	Het
Qser1	A	T	2: 104,608,541 (GRCm39)	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,620,726 (GRCm39)	C8G	probably damaging	Het
Sla2	A	T	2: 156,716,919 (GRCm39)	D180E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Snhg16	A	T	11: 116,563,490 (GRCm39)	T27S	possibly damaging	Het
Tbx3	A	G	5: 119,816,796 (GRCm39)	K311R	possibly damaging	Het
Tdpoz6	A	G	3: 93,599,994 (GRCm39)	F125S	probably benign	Het
Thbs2	A	T	17: 14,910,099 (GRCm39)	C167S	probably damaging	Het
Trak1	T	A	9: 121,301,373 (GRCm39)	C710S	possibly damaging	Het
Tsks	G	A	7: 44,603,208 (GRCm39)	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,816,604 (GRCm39)	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,899,765 (GRCm39)	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,690,033 (GRCm39)	T303M	probably damaging	Het
Vmn2r68	A	T	7: 84,882,978 (GRCm39)	M258K	probably benign	Het
Vmn2r76	A	G	7: 85,895,202 (GRCm39)		probably null	Het
Wap	A	G	11: 6,588,609 (GRCm39)	I5T	possibly damaging	Het
Zfp235	A	C	7: 23,841,576 (GRCm39)	H665P	probably 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
R2008:Edil3	UTSW	13	89,093,072 (GRCm39)	splice 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
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'- AGATCCTCAAACATCCATGCCTTTG -3'
(R):5'- CACACAGTTCATTTCGTGGAG -3'

Sequencing Primer
(F):5'- TCAAACATCCATGCCTTTGTATAC -3'
(R):5'- GTTCATTTCGTGGAGATACTTATAGG -3'

Posted On

2016-11-09