Incidental Mutation 'IGL02365:Vegfb'
ID290702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vegfb
Ensembl Gene ENSMUSG00000024962
Gene Namevascular endothelial growth factor B
SynonymsVrf, VEGF-B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02365
Quality Score
Status
Chromosome19
Chromosomal Location6982473-6987651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 6985487 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 140 (I140N)
Ref Sequence ENSEMBL: ENSMUSP00000120860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025914] [ENSMUST00000025915] [ENSMUST00000130048] [ENSMUST00000179118]
Predicted Effect probably benign
Transcript: ENSMUST00000025914
AA Change: S174T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025914
Gene: ENSMUSG00000024962
AA Change: S174T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PDGF 45 126 1.11e-44 SMART
low complexity region 182 207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025915
SMART Domains Protein: ENSMUSP00000025915
Gene: ENSMUSG00000024963

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
DnaJ 36 94 9.97e-23 SMART
transmembrane domain 160 179 N/A INTRINSIC
low complexity region 205 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130048
AA Change: I140N

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120860
Gene: ENSMUSG00000024962
AA Change: I140N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PDGF 45 126 1.11e-44 SMART
Pfam:VEGF_C 134 188 1.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147924
Predicted Effect probably benign
Transcript: ENSMUST00000179118
SMART Domains Protein: ENSMUSP00000136062
Gene: ENSMUSG00000024963

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
DnaJ 36 94 9.97e-23 SMART
transmembrane domain 159 178 N/A INTRINSIC
low complexity region 204 226 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PDGF (platelet-derived growth factor)/VEGF (vascular endothelial growth factor) family. The VEGF family members regulate the formation of blood vessels and are involved in endothelial cell physiology. This member is a ligand for VEGFR-1 (vascular endothelial growth factor receptor 1) and NRP-1 (neuropilin-1). Studies in mice showed that this gene was co-expressed with nuclear-encoded mitochondrial genes and the encoded protein specifically controlled endothelial uptake of fatty acids. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for one or more disruptions in this gene display defective cardiac morphology and physiology, sensitivity to induced neurodegeneration, increased weight and brown adipose whitening. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933400A11Rik T C X: 169,776,530 N272D probably benign Het
Acyp2 A T 11: 30,649,318 V21E probably damaging Het
Adgrl3 A G 5: 81,512,581 D331G probably damaging Het
Arfgef1 A T 1: 10,199,883 I347N probably benign Het
Bfsp1 T G 2: 143,826,736 E647A probably damaging Het
Bhmt A T 13: 93,617,638 N354K probably benign Het
Brinp3 A T 1: 146,901,122 T436S probably benign Het
Cog7 C A 7: 121,977,736 M66I possibly damaging Het
Csf2rb2 A T 15: 78,287,060 M333K possibly damaging Het
Cyp2u1 A G 3: 131,298,229 V214A probably damaging Het
Dcaf5 A T 12: 80,398,773 H177Q probably benign Het
Dchs1 T C 7: 105,755,188 T2716A probably benign Het
Dsc1 T C 18: 20,108,816 Q156R probably damaging Het
Dspp G T 5: 104,176,061 G357W probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fto T G 8: 91,468,375 S265R probably damaging Het
Gphb5 A G 12: 75,415,817 probably benign Het
Iars T C 13: 49,691,499 V162A probably benign Het
Klk13 A C 7: 43,723,866 K107T possibly damaging Het
Kpna7 T A 5: 144,985,733 D507V possibly damaging Het
Lamb1 A T 12: 31,318,345 E1158V probably damaging Het
Lonp2 A T 8: 86,716,365 D818V possibly damaging Het
Med15 A G 16: 17,671,606 probably benign Het
Olfr470 T A 7: 107,844,912 N274Y probably damaging Het
Olfr810 T C 10: 129,791,535 D18G possibly damaging Het
Olfr965 A T 9: 39,719,674 Y149F possibly damaging Het
Olfr965 G A 9: 39,720,100 S291N probably damaging Het
Plpbp A G 8: 27,045,924 I82V probably benign Het
Ptprcap A G 19: 4,156,268 I117V probably benign Het
Rhox12 T A X: 38,107,881 D88V possibly damaging Het
Rnpc3 A G 3: 113,608,399 S500P probably damaging Het
Sdhd A T 9: 50,598,825 Y84N possibly damaging Het
Sema6d G A 2: 124,656,868 V233I probably benign Het
Vldlr A G 19: 27,245,625 Y732C probably damaging Het
Vmn2r17 T A 5: 109,453,309 F824L probably damaging Het
Xdh A T 17: 73,943,890 N22K probably benign Het
Zc3h11a A C 1: 133,637,413 N249K probably benign Het
Zwilch T A 9: 64,160,924 D203V probably damaging Het
Other mutations in Vegfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Vegfb APN 19 6986478 missense probably damaging 1.00
IGL02431:Vegfb APN 19 6986018 splice site probably null
R2040:Vegfb UTSW 19 6986039 missense possibly damaging 0.93
R2312:Vegfb UTSW 19 6985427 missense possibly damaging 0.63
R3777:Vegfb UTSW 19 6987399 unclassified probably benign
R4152:Vegfb UTSW 19 6986078 missense probably damaging 1.00
R4154:Vegfb UTSW 19 6986078 missense probably damaging 1.00
R5635:Vegfb UTSW 19 6982846 makesense probably null
R7804:Vegfb UTSW 19 6986339 missense probably damaging 1.00
R8348:Vegfb UTSW 19 6985488 missense probably benign 0.01
R8673:Vegfb UTSW 19 6985444 missense unknown
Posted On2015-04-16