Incidental Mutation 'IGL00658:Vegfc'
| ID |
14774 |
| 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 # |
IGL00658
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
54530567-54639489 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 54609983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033919]
[ENSMUST00000210831]
|
| AlphaFold |
P97953 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033919
|
| SMART Domains |
Protein: ENSMUSP00000033919
Gene: ENSMUSG00000031520
| 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
|
| 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: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
A |
8: 44,021,940 (GRCm39) |
M517L |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,605,943 (GRCm39) |
E2531G |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,059,471 (GRCm39) |
H2618L |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,675,857 (GRCm39) |
D252E |
probably damaging |
Het |
| Gm904 |
G |
T |
13: 50,798,758 (GRCm39) |
A76S |
possibly damaging |
Het |
| Kansl1 |
G |
A |
11: 104,248,352 (GRCm39) |
T534I |
probably benign |
Het |
| Ripor1 |
C |
T |
8: 106,344,749 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,116,382 (GRCm39) |
Q1439R |
probably damaging |
Het |
| Serpina3i |
T |
A |
12: 104,231,429 (GRCm39) |
V22D |
possibly damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,834,202 (GRCm39) |
D490V |
probably benign |
Het |
| Tlcd5 |
T |
C |
9: 43,024,786 (GRCm39) |
I57V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,727,616 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vegfc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02120:Vegfc
|
APN |
8 |
54,634,436 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03344:Vegfc
|
APN |
8 |
54,610,186 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
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 |
2012-12-06 |
Incidental Mutation