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 |