Incidental Mutation 'R6728:Vegfc'
| ID |
529946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vegfc
|
| Ensembl Gene |
ENSMUSG00000031520 |
| Gene Name |
vascular endothelial growth factor C |
| Synonyms |
VEGF-C |
| MMRRC Submission |
044846-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6728 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
54530567-54639489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54639057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 401
(V401A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033919]
|
| AlphaFold |
P97953 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033919
AA Change: V401A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033919
Gene: ENSMUSG00000031520
AA Change: V401A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,645 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adcy5 |
T |
A |
16: 34,977,535 (GRCm39) |
V356E |
possibly damaging |
Het |
| Agmat |
G |
T |
4: 141,476,897 (GRCm39) |
C101F |
probably benign |
Het |
| Aoc1l3 |
T |
C |
6: 48,965,779 (GRCm39) |
S596P |
possibly damaging |
Het |
| Atl1 |
T |
C |
12: 69,994,324 (GRCm39) |
V276A |
possibly damaging |
Het |
| Barhl1 |
G |
A |
2: 28,805,495 (GRCm39) |
P66L |
probably benign |
Het |
| Camk4 |
A |
T |
18: 33,317,992 (GRCm39) |
E383V |
probably benign |
Het |
| Cap2 |
G |
A |
13: 46,793,335 (GRCm39) |
E234K |
possibly damaging |
Het |
| Col24a1 |
A |
T |
3: 145,020,957 (GRCm39) |
M443L |
probably benign |
Het |
| Cyp17a1 |
A |
G |
19: 46,657,673 (GRCm39) |
V293A |
probably benign |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,284,664 (GRCm39) |
S1162P |
probably benign |
Het |
| Hspbp1 |
T |
A |
7: 4,663,781 (GRCm39) |
M355L |
possibly damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Kin |
G |
A |
2: 10,094,959 (GRCm39) |
R82Q |
possibly damaging |
Het |
| Ninl |
G |
T |
2: 150,817,777 (GRCm39) |
S129* |
probably null |
Het |
| Or11h4 |
T |
C |
14: 50,974,296 (GRCm39) |
T108A |
possibly damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,018 (GRCm39) |
D231E |
probably benign |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Platr25 |
G |
A |
13: 62,848,197 (GRCm39) |
H222Y |
probably damaging |
Het |
| Plcb2 |
G |
T |
2: 118,554,171 (GRCm39) |
S94Y |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,011,737 (GRCm39) |
Y722H |
probably benign |
Het |
| Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
| Thsd4 |
T |
C |
9: 59,904,480 (GRCm39) |
D572G |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,802,727 (GRCm39) |
L1510H |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,840,098 (GRCm39) |
S433P |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,196,453 (GRCm39) |
M27V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCATGCTTTTAAAGGCTTTTC -3'
(R):5'- TCAATAAACACAGACTTGGGCC -3'
Sequencing Primer
(F):5'- TCCTCCCAAATTCTGAAAACTTAAG -3'
(R):5'- TAAACACAGACTTGGGCCTCTGTTAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation