Mutagenetix > Incidental Mutation

Incidental Mutation 'R4570:Edil3'

342093

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

041794-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88969591-89471342 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 89280016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112829 (fasta)

Gene Model

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

AlphaFold

O35474

Predicted Effect

probably benign
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 benign
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 benign
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: ENSMUST00000153974

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,842,528 (GRCm39)	D1154G	probably damaging	Het
Acsl5	T	A	19: 55,280,206 (GRCm39)	I493N	probably damaging	Het
Adgrf5	T	A	17: 43,756,006 (GRCm39)	S450T	probably benign	Het
Ak2	T	C	4: 128,895,960 (GRCm39)	V79A	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arfgef2	C	A	2: 166,698,458 (GRCm39)	Q643K	probably damaging	Het
Asap3	A	G	4: 135,967,496 (GRCm39)	D605G	probably damaging	Het
Ccr5	C	T	9: 123,924,912 (GRCm39)	Q172*	probably null	Het
Cpxm2	T	C	7: 131,745,435 (GRCm39)	D130G	probably benign	Het
Cspg4b	T	A	13: 113,454,725 (GRCm39)	V257D	probably damaging	Het
Cxcl12	T	C	6: 117,145,633 (GRCm39)	V6A	probably benign	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dzip1l	A	T	9: 99,529,221 (GRCm39)	K317*	probably null	Het
Enpep	A	T	3: 129,075,197 (GRCm39)	I707K	possibly damaging	Het
Fcrlb	A	G	1: 170,740,189 (GRCm39)		probably null	Het
Flt1	C	T	5: 147,531,423 (GRCm39)	A847T	probably damaging	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gemin6	C	T	17: 80,535,498 (GRCm39)	R153*	probably null	Het
Gldc	T	A	19: 30,151,839 (GRCm39)	M112L	probably benign	Het
Gm10267	C	T	18: 44,289,492 (GRCm39)	M79I	probably benign	Het
Gm10803	A	G	2: 93,394,597 (GRCm39)	Y123C	unknown	Het
Gm28040	C	A	1: 133,257,119 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,056,570 (GRCm39)		noncoding transcript	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Hba-a2	T	C	11: 32,247,200 (GRCm39)	Y141H	probably damaging	Het
Hmbox1	T	A	14: 65,061,111 (GRCm39)	I388F	possibly damaging	Het
Hs6st1	G	T	1: 36,142,628 (GRCm39)	V188L	possibly damaging	Het
Ipmk	T	G	10: 71,208,569 (GRCm39)	H118Q	probably benign	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Kcna2	A	G	3: 107,012,111 (GRCm39)	I231V	probably benign	Het
Kcnh7	T	C	2: 62,667,439 (GRCm39)	T367A	possibly damaging	Het
Kcp	A	T	6: 29,491,847 (GRCm39)	C197*	probably null	Het
Klra2	C	A	6: 131,220,900 (GRCm39)	C54F	probably damaging	Het
Lcn9	T	C	2: 25,713,591 (GRCm39)	L39P	probably benign	Het
Lct	T	C	1: 128,227,641 (GRCm39)	N1284S	probably benign	Het
Map6	T	G	7: 98,985,763 (GRCm39)	S556A	possibly damaging	Het
Mdn1	C	A	4: 32,741,812 (GRCm39)	T3861K	probably damaging	Het
Mrps12	A	G	7: 28,439,388 (GRCm39)	L109P	probably damaging	Het
Mucl3	T	C	17: 35,948,883 (GRCm39)	T239A	possibly damaging	Het
Mybphl	G	A	3: 108,272,347 (GRCm39)	C12Y	possibly damaging	Het
Nek9	T	C	12: 85,367,508 (GRCm39)	K388E	probably damaging	Het
Nvl	A	G	1: 180,971,647 (GRCm39)	V9A	probably benign	Het
Obscn	T	C	11: 58,897,654 (GRCm39)		probably null	Het
Or2h2	T	C	17: 37,396,471 (GRCm39)	I195M	probably damaging	Het
Pik3c3	T	A	18: 30,423,603 (GRCm39)	I233N	possibly damaging	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Ppara	A	G	15: 85,671,398 (GRCm39)	I100V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,546,156 (GRCm39)		noncoding transcript	Het
Scmh1	T	A	4: 120,385,495 (GRCm39)	H623Q	probably damaging	Het
Scn9a	A	G	2: 66,313,902 (GRCm39)	S1939P	possibly damaging	Het
Slc6a13	T	C	6: 121,313,101 (GRCm39)		probably null	Het
Slc7a4	G	A	16: 17,392,141 (GRCm39)	T431I	probably benign	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Spopl	T	A	2: 23,427,497 (GRCm39)	K212*	probably null	Het
Strn	T	A	17: 78,984,801 (GRCm39)	T281S	possibly damaging	Het
Supt3	T	A	17: 45,352,116 (GRCm39)	L265*	probably null	Het
Taf5l	G	A	8: 124,724,289 (GRCm39)	T510M	probably damaging	Het
Tapbp	C	A	17: 34,145,427 (GRCm39)	D415E	probably damaging	Het
Tarbp1	A	T	8: 127,178,972 (GRCm39)	D702E	probably benign	Het
Tfap2c	C	A	2: 172,399,247 (GRCm39)	P473Q	probably damaging	Het
Tnc	T	C	4: 63,913,909 (GRCm39)	N1301S	probably damaging	Het
Trim33	A	G	3: 103,237,481 (GRCm39)	Q179R	probably damaging	Het
Txnrd2	A	G	16: 18,287,554 (GRCm39)	N335S	probably benign	Het
Uggt1	T	A	1: 36,189,154 (GRCm39)	D1444V	probably damaging	Het
Ugt3a1	T	C	15: 9,338,807 (GRCm39)	L57P	probably benign	Het
Vmn2r6	A	T	3: 64,467,068 (GRCm39)	W144R	probably benign	Het
Vmn2r98	T	A	17: 19,286,354 (GRCm39)	M284K	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het
Zfp703	T	C	8: 27,468,981 (GRCm39)	V215A	probably benign	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
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'- GCTTCATCTACTCACCGAGC -3'
(R):5'- CGCACTTTATATTTGCACATGGG -3'

Sequencing Primer
(F):5'- CGAGCTCTTTTTGGACTCCAGAAG -3'
(R):5'- TGCTATCCCAAAAGTCCACTTATG -3'

Posted On

2015-09-24