Incidental Mutation 'R4258:Edil3'
| ID |
321916 |
| 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 |
041071-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4258 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
88969591-89471342 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89325272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 220
(L220F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043111]
[ENSMUST00000081769]
[ENSMUST00000118731]
|
| AlphaFold |
O35474 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043111
AA Change: L210F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488
AA Change: L210F
| 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: L220F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488
AA Change: L220F
| 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: L220F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112829
Gene: ENSMUSG00000034488
AA Change: L220F
| 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 |
0.8752 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (60/63) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
T |
A |
17: 54,031,441 (GRCm39) |
|
noncoding transcript |
Het |
| Ank3 |
T |
C |
10: 69,840,592 (GRCm39) |
I984T |
probably benign |
Het |
| Arnt2 |
T |
C |
7: 83,960,163 (GRCm39) |
T204A |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
| Aspg |
A |
T |
12: 112,087,687 (GRCm39) |
N346I |
probably benign |
Het |
| Brdt |
A |
G |
5: 107,507,775 (GRCm39) |
S668G |
probably damaging |
Het |
| Ccdc178 |
C |
T |
18: 22,150,392 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
A |
T |
19: 47,937,923 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
C |
A |
17: 56,363,474 (GRCm39) |
H319Q |
unknown |
Het |
| Colec12 |
T |
C |
18: 9,720,950 (GRCm39) |
S13P |
probably damaging |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cyp2c65 |
A |
C |
19: 39,081,872 (GRCm39) |
D466A |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,248 (GRCm39) |
K266E |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 138,990,678 (GRCm39) |
R214L |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,818,854 (GRCm39) |
I1533V |
probably benign |
Het |
| Dynlt1a |
C |
T |
17: 6,361,184 (GRCm39) |
M102I |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,831,693 (GRCm39) |
Y383H |
probably benign |
Het |
| Epc1 |
T |
A |
18: 6,450,130 (GRCm39) |
T393S |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,041,076 (GRCm39) |
D164V |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,284,841 (GRCm39) |
N16I |
probably damaging |
Het |
| Gdf6 |
G |
A |
4: 9,844,877 (GRCm39) |
V134I |
probably damaging |
Het |
| Gm5475 |
A |
G |
15: 100,322,117 (GRCm39) |
|
probably benign |
Het |
| Gm6430 |
T |
G |
1: 96,952,561 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv9-4 |
A |
T |
12: 114,263,765 (GRCm39) |
V56E |
probably damaging |
Het |
| Il3ra |
A |
T |
14: 14,347,961 (GRCm38) |
N36Y |
probably damaging |
Het |
| Kif7 |
G |
T |
7: 79,360,261 (GRCm39) |
C325* |
probably null |
Het |
| Lipo2 |
A |
T |
19: 33,708,328 (GRCm39) |
F229I |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,352,656 (GRCm39) |
K1935E |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,017 (GRCm39) |
D2672E |
possibly damaging |
Het |
| Mtf1 |
A |
G |
4: 124,732,576 (GRCm39) |
T545A |
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,004,812 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,409 (GRCm39) |
V1672A |
probably damaging |
Het |
| Nudt16l2 |
T |
C |
9: 105,020,767 (GRCm39) |
I165V |
probably damaging |
Het |
| Or10al6 |
C |
A |
17: 38,082,949 (GRCm39) |
P135Q |
probably damaging |
Het |
| Or10j5 |
C |
T |
1: 172,785,205 (GRCm39) |
T281I |
possibly damaging |
Het |
| Or4k36 |
A |
T |
2: 111,145,983 (GRCm39) |
H53L |
probably benign |
Het |
| Or5d37 |
T |
A |
2: 87,923,362 (GRCm39) |
N306I |
probably damaging |
Het |
| Pcdhgb2 |
A |
T |
18: 37,825,102 (GRCm39) |
I698F |
probably damaging |
Het |
| Pkn3 |
C |
T |
2: 29,978,572 (GRCm39) |
H665Y |
probably damaging |
Het |
| Ppil6 |
T |
A |
10: 41,383,531 (GRCm39) |
L99* |
probably null |
Het |
| Psg22 |
T |
A |
7: 18,458,554 (GRCm39) |
V376E |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,439,433 (GRCm39) |
|
probably benign |
Het |
| Schip1 |
T |
A |
3: 68,525,963 (GRCm39) |
M379K |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,395,398 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
C |
T |
5: 35,864,322 (GRCm39) |
A622T |
probably benign |
Het |
| Smarcd2 |
A |
T |
11: 106,156,076 (GRCm39) |
I292N |
probably damaging |
Het |
| Ssxb17 |
C |
T |
X: 21,041,167 (GRCm39) |
S45N |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,876,629 (GRCm39) |
R862C |
possibly damaging |
Het |
| Tdrd5 |
T |
A |
1: 156,087,312 (GRCm39) |
H870L |
probably benign |
Het |
| Tnfaip8 |
A |
G |
18: 50,223,443 (GRCm39) |
R60G |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,880,254 (GRCm39) |
R25Q |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,601,150 (GRCm39) |
Y892C |
probably damaging |
Het |
| Vmn2r2 |
T |
G |
3: 64,042,118 (GRCm39) |
D199A |
probably damaging |
Het |
| Washc2 |
C |
A |
6: 116,185,202 (GRCm39) |
P12Q |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,896 (GRCm39) |
I121V |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,228,267 (GRCm39) |
|
probably null |
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 |
|
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'- ATGGCCGAACAAAGACTTTCTG -3'
(R):5'- AGGTGTCCCTTTATAACATGGTC -3'
Sequencing Primer
(F):5'- CCGAACAAAGACTTTCTGTTTCTATG -3'
(R):5'- TTCCCGTCATTGCTGTAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation