Mutagenetix > Incidental Mutation

Incidental Mutation 'R7138:Edil3'

553218

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

045249-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88969591-89471342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89279847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 175 (T175I)

Ref Sequence

ENSEMBL: ENSMUSP00000080462 (fasta)

Gene Model

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

AlphaFold

O35474

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043111
AA Change: T165I

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488
AA Change: T165I

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: T175I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488
AA Change: T175I

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: T175I

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

SMART Domains

Protein: ENSMUSP00000112829
Gene: ENSMUSG00000034488
AA Change: T175I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,113 (GRCm39)	C698*	probably null	Het
Acacb	G	A	5: 114,345,387 (GRCm39)	V947M	probably benign	Het
Acadsb	T	G	7: 131,042,968 (GRCm39)	L343R	probably damaging	Het
Adgrf2	C	T	17: 43,021,874 (GRCm39)	E317K	probably damaging	Het
Agap2	A	G	10: 126,923,154 (GRCm39)	T663A	unknown	Het
Akap8	A	T	17: 32,535,515 (GRCm39)	F166L	possibly damaging	Het
Ankrd17	A	T	5: 90,390,836 (GRCm39)	M2278K	probably benign	Het
Avl9	T	C	6: 56,705,242 (GRCm39)	S148P	probably damaging	Het
Brf1	T	C	12: 112,933,835 (GRCm39)	E266G	probably damaging	Het
Cabin1	T	C	10: 75,581,187 (GRCm39)	K380E	probably damaging	Het
Catsper2	T	C	2: 121,227,544 (GRCm39)	D542G	possibly damaging	Het
Cbln4	C	A	2: 171,884,095 (GRCm39)	D42Y	probably damaging	Het
Ccn6	T	A	10: 39,034,473 (GRCm39)	Q43L	possibly damaging	Het
Cd5	C	T	19: 10,697,668 (GRCm39)	R437Q	probably damaging	Het
Ceacam18	G	C	7: 43,288,706 (GRCm39)	E152D	possibly damaging	Het
Chd8	A	G	14: 52,451,955 (GRCm39)	S1347P	possibly damaging	Het
Chodl	T	G	16: 78,738,335 (GRCm39)	I101R	probably damaging	Het
Clk4	T	G	11: 51,168,759 (GRCm39)	F377L	probably damaging	Het
Cntnap3	C	T	13: 64,929,539 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,458,780 (GRCm39)	S231G	probably benign	Het
Disp2	T	A	2: 118,617,361 (GRCm39)	H118Q	probably benign	Het
Dnah10	T	C	5: 124,900,009 (GRCm39)	F3869S	probably damaging	Het
Eif1ad18	T	G	12: 88,050,648 (GRCm39)	I61R	probably damaging	Het
Fap	A	G	2: 62,372,522 (GRCm39)	S319P	probably benign	Het
Frmpd2	T	A	14: 33,293,761 (GRCm39)	V1309E	probably benign	Het
Galntl5	T	A	5: 25,394,842 (GRCm39)	S70T	probably benign	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Gna15	G	A	10: 81,343,881 (GRCm39)	T260M	probably damaging	Het
Gucy2c	A	G	6: 136,705,342 (GRCm39)	I531T	probably damaging	Het
Heatr5b	A	G	17: 79,135,417 (GRCm39)	V238A	probably damaging	Het
Htr2a	A	G	14: 74,943,182 (GRCm39)	Y254C	probably damaging	Het
Inpp5b	A	G	4: 124,679,065 (GRCm39)	R491G	probably damaging	Het
Kcnt2	C	T	1: 140,523,778 (GRCm39)	L1093F	possibly damaging	Het
Kcp	C	A	6: 29,491,861 (GRCm39)	E922*	probably null	Het
Lrp2	G	A	2: 69,296,089 (GRCm39)	A3340V	possibly damaging	Het
Lrrn1	T	G	6: 107,545,336 (GRCm39)	V378G	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Net1	G	A	13: 3,938,510 (GRCm39)	R126C	probably damaging	Het
Nipsnap3a	T	C	4: 52,993,978 (GRCm39)	C20R	probably benign	Het
Nxpe2	C	T	9: 48,232,006 (GRCm39)	C317Y	probably damaging	Het
Or10v9	T	A	19: 11,832,652 (GRCm39)	I222F	probably damaging	Het
Or52h1	T	C	7: 103,829,504 (GRCm39)	Y37C	probably damaging	Het
Or8b8	T	C	9: 37,809,360 (GRCm39)	I220T	probably damaging	Het
Or8g54	T	G	9: 39,707,086 (GRCm39)	Y138*	probably null	Het
Orm1	T	A	4: 63,262,949 (GRCm39)	W39R	probably damaging	Het
Pds5b	A	T	5: 150,724,142 (GRCm39)	K1240*	probably null	Het
Pdss1	T	A	2: 22,802,681 (GRCm39)	H173Q	probably damaging	Het
Pebp1	A	G	5: 117,423,882 (GRCm39)	W84R	probably damaging	Het
Pla2g4e	C	T	2: 120,001,759 (GRCm39)	C630Y	probably damaging	Het
Plaat3	T	A	19: 7,556,550 (GRCm39)	V117E	probably damaging	Het
Plekho2	G	T	9: 65,463,635 (GRCm39)	Q405K	probably benign	Het
Plppr2	T	A	9: 21,855,708 (GRCm39)	V227E	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,589 (GRCm39)	D229E	probably benign	Het
Rapgef4	T	C	2: 72,028,707 (GRCm39)	S393P	probably damaging	Het
Rapgefl1	A	G	11: 98,737,900 (GRCm39)		probably null	Het
Ripk3	C	A	14: 56,025,803 (GRCm39)	R19L	probably benign	Het
Rnase10	G	T	14: 51,247,167 (GRCm39)	V182F	probably damaging	Het
Rsf1	T	A	7: 97,319,002 (GRCm39)	S917R		Het
Sephs2	T	C	7: 126,872,187 (GRCm39)	N302S	possibly damaging	Het
Slc13a2	C	T	11: 78,289,950 (GRCm39)	V455M	possibly damaging	Het
Slc30a2	A	T	4: 134,071,429 (GRCm39)	D54V	probably benign	Het
Slco6c1	T	C	1: 97,047,706 (GRCm39)	E199G	possibly damaging	Het
Snx27	A	T	3: 94,436,247 (GRCm39)	M256K	probably benign	Het
Spag4	T	A	2: 155,908,519 (GRCm39)	S150T	probably benign	Het
Spon1	T	A	7: 113,635,945 (GRCm39)	C720S	probably damaging	Het
Tbc1d22a	T	C	15: 86,123,356 (GRCm39)	S166P	probably benign	Het
Tbc1d9	T	C	8: 83,937,113 (GRCm39)	I65T	probably damaging	Het
Tmem176a	T	A	6: 48,820,953 (GRCm39)	V141D	probably damaging	Het
Tmem268	G	A	4: 63,480,687 (GRCm39)		probably benign	Het
Tonsl	A	G	15: 76,518,976 (GRCm39)	V519A	probably benign	Het
Ttn	G	A	2: 76,612,376 (GRCm39)	P17204S	possibly damaging	Het
Wrap53	T	A	11: 69,454,694 (GRCm39)	D225V	probably benign	Het
Zfhx4	G	A	3: 5,477,107 (GRCm39)	A3241T	possibly damaging	Het
Zfp1002	T	C	2: 150,097,372 (GRCm39)	H47R	probably damaging	Het
Znfx1	T	C	2: 166,898,697 (GRCm39)	R76G	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
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
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'- ACAGACTAGTCAGCTGGATAGGAC -3'
(R):5'- TGAGAAAGAATCACAGCCAATTCTC -3'

Sequencing Primer
(F):5'- CTAGTCAGCTGGATAGGACTTAAGTG -3'
(R):5'- ACAGCCAATTCTCCCTAACCTACTTC -3'

Posted On

2019-05-15