Mutagenetix > Incidental Mutation

Incidental Mutation 'R0735:Edil3'

68245

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

038916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0735 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88969591-89471342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89325297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 219 (V219F)

Ref Sequence

ENSEMBL: ENSMUSP00000044652 (fasta)

Gene Model

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

AlphaFold

O35474

Predicted Effect

probably damaging
Transcript: ENSMUST00000043111
AA Change: V219F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488
AA Change: V219F

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: V229F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488
AA Change: V229F

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 damaging
Transcript: ENSMUST00000118731
AA Change: V229F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112829
Gene: ENSMUSG00000034488
AA Change: V229F

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.7%
20x: 91.8%

Validation Efficiency

95% (73/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	A	14: 29,711,669 (GRCm39)	M405K	probably benign	Het
Adam10	G	A	9: 70,655,533 (GRCm39)	V334I	possibly damaging	Het
Adgra2	G	T	8: 27,607,346 (GRCm39)	G686C	probably damaging	Het
Akap11	A	T	14: 78,747,518 (GRCm39)	I1623N	probably damaging	Het
Astn1	A	T	1: 158,299,959 (GRCm39)	T100S	possibly damaging	Het
B3galt1	A	C	2: 67,948,923 (GRCm39)	I213L	possibly damaging	Het
B4galnt4	A	G	7: 140,644,236 (GRCm39)	K101E	probably benign	Het
Brd10	A	T	19: 29,695,038 (GRCm39)	I1552K	possibly damaging	Het
Camsap2	A	G	1: 136,220,626 (GRCm39)	S324P	probably damaging	Het
Chrnb4	A	G	9: 54,951,084 (GRCm39)	S60P	probably damaging	Het
Cpne1	A	G	2: 155,920,670 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,496,500 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cxcl15	T	C	5: 90,949,153 (GRCm39)	M106T	probably benign	Het
Cyp2c23	A	T	19: 44,005,249 (GRCm39)	M140K	probably damaging	Het
Dgke	A	G	11: 88,950,901 (GRCm39)	F104S	probably benign	Het
Dhx36	T	A	3: 62,380,150 (GRCm39)	M849L	probably benign	Het
Dnah7a	C	T	1: 53,583,670 (GRCm39)	E1522K	possibly damaging	Het
Egln1	A	G	8: 125,675,234 (GRCm39)	V187A	possibly damaging	Het
Fam193a	T	C	5: 34,596,722 (GRCm39)	I455T	possibly damaging	Het
Fdft1	A	T	14: 63,400,869 (GRCm39)	I88N	probably damaging	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Frs2	T	A	10: 116,910,487 (GRCm39)	S292C	probably damaging	Het
Gpr107	T	A	2: 31,062,006 (GRCm39)	F145I	probably benign	Het
Gpr153	T	A	4: 152,363,830 (GRCm39)	C83*	probably null	Het
H2-Q7	T	G	17: 35,659,162 (GRCm39)		probably null	Het
Hsp90b1	A	T	10: 86,531,612 (GRCm39)		probably benign	Het
Kcnk1	C	A	8: 126,752,028 (GRCm39)	N211K	probably damaging	Het
Klb	T	C	5: 65,537,070 (GRCm39)	V800A	probably benign	Het
Lat2	T	C	5: 134,635,637 (GRCm39)	Y59C	probably damaging	Het
Mlkl	A	T	8: 112,054,433 (GRCm39)		probably benign	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mtbp	T	A	15: 55,426,338 (GRCm39)	C93*	probably null	Het
Myo7a	A	G	7: 97,730,387 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,449,180 (GRCm39)		probably benign	Het
Ogfrl1	T	C	1: 23,414,835 (GRCm39)	Q224R	possibly damaging	Het
Or10j2	A	G	1: 173,098,569 (GRCm39)	T276A	probably benign	Het
Or56b2	A	T	7: 104,338,026 (GRCm39)	H268L	probably damaging	Het
Osbpl2	A	G	2: 179,792,083 (GRCm39)		probably benign	Het
Pira13	T	C	7: 3,824,781 (GRCm39)	T533A	possibly damaging	Het
Plb1	C	T	5: 32,442,264 (GRCm39)	T252M	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbsn	T	C	6: 92,166,674 (GRCm39)	T657A	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rps6kb2	C	A	19: 4,207,882 (GRCm39)	S348I	probably benign	Het
Rsrp1	C	T	4: 134,651,568 (GRCm39)	R111W	unknown	Het
Ryr3	T	C	2: 112,563,327 (GRCm39)	T2933A	probably benign	Het
Scara5	A	G	14: 65,968,468 (GRCm39)	D247G	possibly damaging	Het
Slc7a11	C	T	3: 50,378,545 (GRCm39)	S231N	probably benign	Het
Sod2	A	T	17: 13,229,451 (GRCm39)	N91Y	probably damaging	Het
Spesp1	A	T	9: 62,179,967 (GRCm39)	S314T	probably benign	Het
St3gal1	C	A	15: 66,985,536 (GRCm39)	M39I	probably benign	Het
Stat6	A	T	10: 127,494,110 (GRCm39)	I646F	probably damaging	Het
Tdrd1	A	T	19: 56,854,410 (GRCm39)	K1119*	probably null	Het
Thbs2	A	G	17: 14,900,077 (GRCm39)	I600T	probably benign	Het
Tor1a	A	G	2: 30,853,850 (GRCm39)	V160A	probably damaging	Het
Trdmt1	T	G	2: 13,528,249 (GRCm39)	D104A	probably benign	Het
Trim58	T	C	11: 58,542,219 (GRCm39)	V393A	probably benign	Het
Trip4	C	T	9: 65,792,200 (GRCm39)		probably benign	Het
Trip6	T	C	5: 137,309,083 (GRCm39)	E341G	probably benign	Het
Ttn	T	A	2: 76,545,539 (GRCm39)	I32595F	probably damaging	Het
Ubr4	T	A	4: 139,155,339 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,596,890 (GRCm39)	V3877I	probably benign	Het
Vmn1r29	G	T	6: 58,284,717 (GRCm39)	G146C	probably damaging	Het
Vmn2r53	A	G	7: 12,315,707 (GRCm39)	V704A	probably benign	Het
Vmn2r7	C	T	3: 64,623,788 (GRCm39)	M268I	probably benign	Het
Wnt7b	G	A	15: 85,421,696 (GRCm39)	T248M	probably damaging	Het
Xab2	G	A	8: 3,663,649 (GRCm39)	P394S	possibly damaging	Het
Zfp663	A	G	2: 165,200,995 (GRCm39)	V13A	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
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
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'- GCACTTTGCATAACATGGCCGAAC -3'
(R):5'- TTTGAGAAGCACTTGTAGGAGCACC -3'

Sequencing Primer
(F):5'- TGGCCGAACAAAGACTTTCTG -3'
(R):5'- AAGGCTCAGGTGTCCCTTTATAAC -3'

Posted On

2013-09-03