Incidental Mutation 'IGL03344:Vegfc'
| ID |
417391 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vegfc
|
| Ensembl Gene |
ENSMUSG00000031520 |
| Gene Name |
vascular endothelial growth factor C |
| Synonyms |
VEGF-C |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
54530567-54639489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54610186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 114
(I114N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033919]
[ENSMUST00000210831]
|
| AlphaFold |
P97953 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033919
AA Change: I114N
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000033919
Gene: ENSMUSG00000031520
AA Change: I114N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
PDGF
|
125 |
209 |
5.07e-48 |
SMART |
|
Pfam:CXCXC
|
279 |
291 |
1.6e-7 |
PFAM |
|
Pfam:CXCXC
|
327 |
339 |
1.5e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209703
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210831
AA Change: I114N
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
|
| 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 a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mutation of this gene affects the development of the lymphatic system. Homozygous inactivation is embryonic lethal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
T |
8: 79,975,005 (GRCm39) |
I26N |
probably damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,376,065 (GRCm39) |
N47D |
probably damaging |
Het |
| Cer1 |
A |
T |
4: 82,803,062 (GRCm39) |
W87R |
probably damaging |
Het |
| Chrna2 |
A |
G |
14: 66,388,415 (GRCm39) |
K477E |
probably damaging |
Het |
| Chtf8 |
G |
A |
8: 107,612,904 (GRCm39) |
P12S |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
| Deaf1 |
A |
T |
7: 140,877,461 (GRCm39) |
H555Q |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,418,197 (GRCm39) |
I1975M |
probably damaging |
Het |
| Ecpas |
A |
C |
4: 58,828,538 (GRCm39) |
V965G |
probably damaging |
Het |
| Fsd2 |
C |
A |
7: 81,209,657 (GRCm39) |
V62L |
probably benign |
Het |
| Fxyd6 |
T |
G |
9: 45,303,548 (GRCm39) |
L81R |
probably benign |
Het |
| Htt |
T |
A |
5: 35,064,810 (GRCm39) |
S3008T |
probably benign |
Het |
| Htt |
T |
A |
5: 35,037,172 (GRCm39) |
S2086T |
probably benign |
Het |
| Mybbp1a |
G |
T |
11: 72,336,028 (GRCm39) |
R447L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 90,998,411 (GRCm39) |
V792A |
possibly damaging |
Het |
| Odad2 |
C |
A |
18: 7,129,434 (GRCm39) |
G915* |
probably null |
Het |
| Odr4 |
T |
C |
1: 150,239,295 (GRCm39) |
E386G |
probably damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,003 (GRCm39) |
I302L |
probably benign |
Het |
| Or1j14 |
T |
C |
2: 36,418,140 (GRCm39) |
S239P |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,482 (GRCm39) |
D121G |
possibly damaging |
Het |
| Puf60 |
A |
G |
15: 75,942,229 (GRCm39) |
V548A |
possibly damaging |
Het |
| Serpina3c |
T |
C |
12: 104,113,523 (GRCm39) |
I408V |
probably benign |
Het |
| Ska2 |
A |
G |
11: 87,000,139 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
A |
18: 36,668,654 (GRCm39) |
Y745N |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,029,106 (GRCm39) |
M299T |
probably benign |
Het |
| Speer4f1 |
A |
G |
5: 17,685,332 (GRCm39) |
E209G |
possibly damaging |
Het |
| Tmem202 |
T |
C |
9: 59,426,351 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,493 (GRCm39) |
T274S |
possibly damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,170 (GRCm39) |
N753S |
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,014,314 (GRCm39) |
T624A |
probably damaging |
Het |
|
| Other mutations in Vegfc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00658:Vegfc
|
APN |
8 |
54,609,983 (GRCm39) |
splice site |
probably benign |
|
|
IGL02120:Vegfc
|
APN |
8 |
54,634,436 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0620:Vegfc
|
UTSW |
8 |
54,610,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1167:Vegfc
|
UTSW |
8 |
54,639,078 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1826:Vegfc
|
UTSW |
8 |
54,634,347 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4151:Vegfc
|
UTSW |
8 |
54,530,824 (GRCm39) |
missense |
unknown |
|
|
R4226:Vegfc
|
UTSW |
8 |
54,612,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4227:Vegfc
|
UTSW |
8 |
54,612,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4414:Vegfc
|
UTSW |
8 |
54,634,130 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5963:Vegfc
|
UTSW |
8 |
54,634,319 (GRCm39) |
missense |
probably benign |
|
|
R6241:Vegfc
|
UTSW |
8 |
54,634,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6368:Vegfc
|
UTSW |
8 |
54,634,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Vegfc
|
UTSW |
8 |
54,639,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7044:Vegfc
|
UTSW |
8 |
54,610,080 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7776:Vegfc
|
UTSW |
8 |
54,530,835 (GRCm39) |
missense |
unknown |
|
|
R9374:Vegfc
|
UTSW |
8 |
54,622,180 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9449:Vegfc
|
UTSW |
8 |
54,610,053 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9663:Vegfc
|
UTSW |
8 |
54,634,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Vegfc
|
UTSW |
8 |
54,633,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation