Incidental Mutation 'IGL02120:Vegfc'
ID 280568
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
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02120
Quality Score
Status
Chromosome 8
Chromosomal Location 54077606-54187096 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54181401 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 372 (F372L)
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: F372L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033919
Gene: ENSMUSG00000031520
AA Change: F372L

DomainStartEndE-ValueType
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik C T 4: 144,418,411 R195H probably benign Het
Abcb11 T C 2: 69,257,310 Y1037C probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd33b T C 15: 31,367,056 T113A possibly damaging Het
Aox3 T A 1: 58,127,650 N177K probably benign Het
Arhgap29 T A 3: 122,004,257 V532E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Caskin1 G T 17: 24,500,942 G401V probably damaging Het
Cemip A T 7: 83,951,563 M950K probably damaging Het
Chrd T C 16: 20,734,541 V211A probably damaging Het
Ckap2l T C 2: 129,285,622 N212S possibly damaging Het
Clip1 T C 5: 123,647,883 D246G probably damaging Het
Dlst T C 12: 85,118,568 S82P probably benign Het
Dmxl1 T A 18: 49,894,178 L2118M possibly damaging Het
Dnah7a T C 1: 53,495,717 K2795E possibly damaging Het
Enpp5 T A 17: 44,080,845 M55K probably benign Het
Epdr1 A T 13: 19,594,471 S50T probably damaging Het
Gm6169 G T 13: 97,098,777 probably benign Het
Gm7808 T A 9: 19,928,017 probably benign Het
Huwe1 T A X: 151,907,390 F2485I possibly damaging Het
Kcnb2 C T 1: 15,709,861 T319M probably damaging Het
Lama1 G A 17: 67,716,789 V60M probably damaging Het
Lingo3 A T 10: 80,835,859 L79Q probably damaging Het
Magi2 T A 5: 20,228,453 probably null Het
Mob2 C A 7: 142,010,298 V33L possibly damaging Het
Mus81 G A 19: 5,485,633 probably benign Het
Nup210l G A 3: 90,136,862 G490D probably damaging Het
Olfr702 A C 7: 106,823,698 V276G possibly damaging Het
Pbp2 A G 6: 135,309,818 V177A probably damaging Het
Pomt2 T C 12: 87,111,552 D656G probably benign Het
Ppp2r1b A G 9: 50,861,769 probably benign Het
Ptprq T C 10: 107,667,472 E775G probably damaging Het
Rad54l T C 4: 116,098,984 I549V probably benign Het
Ranbp10 T C 8: 105,805,582 Y145C probably damaging Het
Runx1t1 A T 4: 13,846,884 T223S probably benign Het
Stxbp6 G T 12: 44,902,048 probably benign Het
Syne2 A G 12: 75,946,706 D2085G probably damaging Het
Szt2 C T 4: 118,388,564 R1064Q probably benign Het
Taar3 A G 10: 23,950,167 T204A probably benign Het
Tdpoz1 A G 3: 93,670,443 S345P probably damaging Het
Tgm4 T A 9: 123,046,529 I149N probably damaging Het
Tubal3 T A 13: 3,930,675 I129N probably damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vwf C A 6: 125,616,034 L786M probably benign Het
Other mutations in Vegfc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00658:Vegfc APN 8 54156948 splice site probably benign
IGL03344:Vegfc APN 8 54157151 missense possibly damaging 0.64
R0620:Vegfc UTSW 8 54157139 missense probably benign 0.01
R1167:Vegfc UTSW 8 54186043 missense probably benign 0.06
R1826:Vegfc UTSW 8 54181312 missense possibly damaging 0.88
R4151:Vegfc UTSW 8 54077789 missense unknown
R4226:Vegfc UTSW 8 54159410 missense probably damaging 1.00
R4227:Vegfc UTSW 8 54159410 missense probably damaging 1.00
R4414:Vegfc UTSW 8 54181095 missense probably benign 0.02
R5963:Vegfc UTSW 8 54181284 missense probably benign
R6241:Vegfc UTSW 8 54181254 missense probably benign 0.00
R6368:Vegfc UTSW 8 54181230 missense probably damaging 1.00
R6728:Vegfc UTSW 8 54186022 missense probably damaging 0.99
R7044:Vegfc UTSW 8 54157045 missense possibly damaging 0.89
R7776:Vegfc UTSW 8 54077800 missense unknown
R9374:Vegfc UTSW 8 54169145 missense possibly damaging 0.95
R9449:Vegfc UTSW 8 54157018 missense probably benign 0.05
R9663:Vegfc UTSW 8 54181303 missense probably damaging 1.00
R9776:Vegfc UTSW 8 54180794 missense probably benign 0.00
Posted On 2015-04-16