Incidental Mutation 'IGL03004:Vegfd'
ID 407490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vegfd
Ensembl Gene ENSMUSG00000031380
Gene Name vascular endothelial growth factor D
Synonyms VEGF-D, Figf
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03004
Quality Score
Status
Chromosome X
Chromosomal Location 163156374-163185646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 163185104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 352 (L352P)
Ref Sequence ENSEMBL: ENSMUSP00000033751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033751]
AlphaFold P97946
Predicted Effect probably benign
Transcript: ENSMUST00000033751
AA Change: L352P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033751
Gene: ENSMUSG00000031380
AA Change: L352P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 33 46 N/A INTRINSIC
PDGF 114 198 2.37e-48 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124851
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the vascular endothelial growth factor (VEGF) family that acts as a ligand for vascular endothelial growth factor receptor 3. Signalling through this protein is important for growth and development of endothelial and vascular tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Homozygous female and hemizygous male null mice are morphologically normal, can suckle, and have grossly normal lymphatic system morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atrx A T X: 104,876,115 (GRCm39) C78* probably null Het
Birc6 T A 17: 74,919,180 (GRCm39) N1999K probably benign Het
Bltp1 T A 3: 37,019,826 (GRCm39) probably benign Het
Cdc42bpg G A 19: 6,361,413 (GRCm39) R313Q probably benign Het
Clip3 A G 7: 29,991,789 (GRCm39) Y55C probably damaging Het
Ddit4l A G 3: 137,331,966 (GRCm39) N111D probably benign Het
Eprs1 T G 1: 185,114,030 (GRCm39) M326R probably damaging Het
F8 C T X: 74,255,658 (GRCm39) G2045D probably damaging Het
Fstl5 A G 3: 76,555,738 (GRCm39) probably benign Het
Gm10577 T C 4: 100,877,526 (GRCm39) probably benign Het
Heatr6 T C 11: 83,648,205 (GRCm39) S133P probably benign Het
Itpr3 T G 17: 27,316,952 (GRCm39) F736V possibly damaging Het
Klf8 T C X: 152,165,716 (GRCm39) L95P probably damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Map3k12 A G 15: 102,412,631 (GRCm39) V247A possibly damaging Het
Obscn A G 11: 58,919,413 (GRCm39) Y6211H probably damaging Het
Or1j19 A G 2: 36,677,194 (GRCm39) Y219C probably damaging Het
Pip4k2b A G 11: 97,615,300 (GRCm39) Y187H probably damaging Het
Rabggta A G 14: 55,956,687 (GRCm39) probably benign Het
Ranbp3 T A 17: 57,014,207 (GRCm39) V246E probably damaging Het
Rtf1 C A 2: 119,531,754 (GRCm39) probably benign Het
Sema3b G A 9: 107,480,114 (GRCm39) P208L possibly damaging Het
Smpd1 A G 7: 105,205,881 (GRCm39) D416G possibly damaging Het
Spam1 T C 6: 24,796,913 (GRCm39) V288A probably damaging Het
Stac A C 9: 111,431,608 (GRCm39) S248A probably benign Het
Tmem178b C A 6: 40,222,515 (GRCm39) R77S probably damaging Het
Vmn1r176 A T 7: 23,534,702 (GRCm39) N150K probably damaging Het
Vmn1r230 T C 17: 21,067,772 (GRCm39) probably benign Het
Vsig10 A G 5: 117,463,140 (GRCm39) Y122C probably damaging Het
Xpo5 T A 17: 46,518,766 (GRCm39) V121E probably damaging Het
Zrsr2 T C X: 162,722,397 (GRCm39) Q285R probably benign Het
Other mutations in Vegfd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2860:Vegfd UTSW X 163,168,879 (GRCm39) missense probably damaging 1.00
R2861:Vegfd UTSW X 163,168,879 (GRCm39) missense probably damaging 1.00
R2862:Vegfd UTSW X 163,168,879 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02