Incidental Mutation 'R4226:Vegfc'
ID |
320044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vegfc
|
Ensembl Gene |
ENSMUSG00000031520 |
Gene Name |
vascular endothelial growth factor C |
Synonyms |
VEGF-C |
MMRRC Submission |
041046-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4226 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
54530567-54639489 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54612445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 156
(Y156C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033919]
[ENSMUST00000210831]
|
AlphaFold |
P97953 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033919
AA Change: Y156C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033919 Gene: ENSMUSG00000031520 AA Change: Y156C
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 damaging
Transcript: ENSMUST00000210831
AA Change: Y156C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.4568 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449I24Rik |
T |
A |
5: 146,441,690 (GRCm39) |
V279E |
possibly damaging |
Het |
Ache |
T |
C |
5: 137,289,152 (GRCm39) |
V286A |
possibly damaging |
Het |
Amotl1 |
T |
C |
9: 14,504,974 (GRCm39) |
N115S |
probably benign |
Het |
Aoah |
A |
T |
13: 21,163,696 (GRCm39) |
Y333F |
possibly damaging |
Het |
Ap4m1 |
A |
T |
5: 138,171,079 (GRCm39) |
R74* |
probably null |
Het |
Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
T |
A |
5: 21,527,756 (GRCm39) |
I187L |
probably benign |
Het |
Cfh |
A |
T |
1: 140,036,664 (GRCm39) |
C360S |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,050,490 (GRCm39) |
N2249D |
probably damaging |
Het |
Cyb5r4 |
T |
G |
9: 86,939,282 (GRCm39) |
I355S |
probably damaging |
Het |
Dnm1l |
A |
T |
16: 16,132,251 (GRCm39) |
H653Q |
possibly damaging |
Het |
Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
Gm16503 |
C |
T |
4: 147,625,725 (GRCm39) |
S73L |
unknown |
Het |
Hnrnpll |
A |
T |
17: 80,357,234 (GRCm39) |
|
probably null |
Het |
Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Mc1r |
A |
G |
8: 124,134,595 (GRCm39) |
N116S |
possibly damaging |
Het |
Micu2 |
T |
C |
14: 58,169,742 (GRCm39) |
K203E |
possibly damaging |
Het |
Mybpc1 |
C |
T |
10: 88,409,387 (GRCm39) |
W36* |
probably null |
Het |
Nsd1 |
C |
T |
13: 55,408,214 (GRCm39) |
T1286I |
probably damaging |
Het |
Or2a56 |
A |
G |
6: 42,932,689 (GRCm39) |
T86A |
probably benign |
Het |
Or51l14 |
T |
C |
7: 103,100,784 (GRCm39) |
M80T |
probably benign |
Het |
Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
Ryr1 |
A |
C |
7: 28,761,576 (GRCm39) |
Y3190* |
probably null |
Het |
Sec31b |
T |
A |
19: 44,520,149 (GRCm39) |
M212L |
probably benign |
Het |
Smc4 |
A |
G |
3: 68,938,800 (GRCm39) |
E950G |
probably benign |
Het |
Tlr1 |
A |
T |
5: 65,083,060 (GRCm39) |
S506T |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem236 |
G |
T |
2: 14,179,437 (GRCm39) |
E13* |
probably null |
Het |
Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
Vmn1r39 |
T |
C |
6: 66,781,703 (GRCm39) |
H205R |
possibly damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
Zan |
T |
C |
5: 137,422,240 (GRCm39) |
N2793D |
unknown |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGATCCTAGCCATTGTTTCTCTAATTG -3'
(R):5'- TCTGGCTTGAATTAAGTCACTTCAG -3'
Sequencing Primer
(F):5'- ACAAATGCTGTAGGCTCTGC -3'
(R):5'- TTCAGTGAGACCAATCCTCTAAGTC -3'
|
Posted On |
2015-06-12 |