Incidental Mutation 'IGL00841:Vegfb'
ID14773
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 #IGL00841
Quality Score
Status
Chromosome19
Chromosomal Location6982473-6987651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6986478 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 38 (W38R)
Ref Sequence ENSEMBL: ENSMUSP00000120860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025914] [ENSMUST00000025915] [ENSMUST00000130048] [ENSMUST00000179118]
Predicted Effect probably damaging
Transcript: ENSMUST00000025914
AA Change: W38R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025914
Gene: ENSMUSG00000024962
AA Change: W38R

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 damaging
Transcript: ENSMUST00000130048
AA Change: W38R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120860
Gene: ENSMUSG00000024962
AA Change: W38R

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1b T C 13: 96,417,830 probably benign Het
Arl2 C A 19: 6,135,969 probably benign Het
Atp8b4 A G 2: 126,383,769 S514P probably damaging Het
Ces1a G T 8: 93,039,536 S150* probably null Het
Ces1g T A 8: 93,302,987 D539V possibly damaging Het
Col24a1 A G 3: 145,362,309 D752G probably damaging Het
Ctsd A C 7: 142,382,681 S128A probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dscam G A 16: 96,819,877 L544F probably damaging Het
Fry T A 5: 150,422,724 I1566N probably benign Het
Fut8 T A 12: 77,365,321 H148Q probably benign Het
Ighv1-64 A T 12: 115,507,976 M1K probably null Het
Ivd T C 2: 118,876,902 V299A probably benign Het
Kcnab3 A G 11: 69,331,303 I292V probably benign Het
Mfhas1 T A 8: 35,590,886 N838K probably damaging Het
Prom1 A T 5: 44,063,116 probably benign Het
Ros1 T G 10: 52,144,873 T648P possibly damaging Het
Scel A T 14: 103,529,995 Q30L probably benign Het
Skp2 A C 15: 9,139,487 S40R probably benign Het
Tm9sf1 T A 14: 55,642,727 K71M probably damaging Het
Xpo1 T G 11: 23,285,094 F588V probably damaging Het
Zfp990 C A 4: 145,537,868 L479M probably damaging Het
Other mutations in Vegfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Vegfb APN 19 6985487 missense probably benign 0.19
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
Posted On2012-12-06