Incidental Mutation 'IGL02859:Vegfa'
ID 362101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vegfa
Ensembl Gene ENSMUSG00000023951
Gene Name vascular endothelial growth factor A
Synonyms VEGF-A, VEGF120, VEGF188, VEGF164, VPF, Vegf
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02859
Quality Score
Status
Chromosome 17
Chromosomal Location 46327919-46343295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46335421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 291 (S291N)
Ref Sequence ENSEMBL: ENSMUSP00000149539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024747] [ENSMUST00000071648] [ENSMUST00000113519] [ENSMUST00000113520] [ENSMUST00000142351] [ENSMUST00000167860] [ENSMUST00000214739] [ENSMUST00000217017]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024747
AA Change: S113N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000024747
Gene: ENSMUSG00000023951
AA Change: S113N

DomainStartEndE-ValueType
PDGF 49 131 1.48e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000071648
AA Change: S291N

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000071575
Gene: ENSMUSG00000023951
AA Change: S291N

DomainStartEndE-ValueType
low complexity region 31 51 N/A INTRINSIC
low complexity region 60 71 N/A INTRINSIC
low complexity region 87 105 N/A INTRINSIC
low complexity region 121 143 N/A INTRINSIC
low complexity region 158 176 N/A INTRINSIC
PDGF 227 309 1.48e-49 SMART
Pfam:VEGF_C 312 368 2.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113519
AA Change: S113N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109147
Gene: ENSMUSG00000023951
AA Change: S113N

DomainStartEndE-ValueType
PDGF 49 131 1.48e-49 SMART
low complexity region 140 161 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113520
AA Change: S113N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109148
Gene: ENSMUSG00000023951
AA Change: S113N

DomainStartEndE-ValueType
PDGF 49 131 1.48e-49 SMART
Pfam:VEGF_C 154 208 9.5e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142321
Predicted Effect probably benign
Transcript: ENSMUST00000142351
AA Change: S291N

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000115883
Gene: ENSMUSG00000023951
AA Change: S291N

DomainStartEndE-ValueType
low complexity region 31 51 N/A INTRINSIC
low complexity region 60 71 N/A INTRINSIC
low complexity region 87 105 N/A INTRINSIC
low complexity region 121 143 N/A INTRINSIC
low complexity region 158 176 N/A INTRINSIC
PDGF 227 309 1.48e-49 SMART
Pfam:VEGF_C 339 392 1.9e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167860
AA Change: S291N

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131901
Gene: ENSMUSG00000023951
AA Change: S291N

DomainStartEndE-ValueType
low complexity region 31 51 N/A INTRINSIC
low complexity region 60 71 N/A INTRINSIC
low complexity region 87 105 N/A INTRINSIC
low complexity region 121 143 N/A INTRINSIC
low complexity region 158 176 N/A INTRINSIC
PDGF 227 309 1.48e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146149
Predicted Effect probably benign
Transcript: ENSMUST00000214739
AA Change: S291N

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000217017
AA Change: S291N

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site.[provided by RefSeq, Nov 2015]
PHENOTYPE: Hetero- or homozygous null mutants show embryonic lethality with impaired angiogenesis and blood-island formation. Mutants selectively expressing isoform 120 or 188 exhibit vascular outgrowth/patterning defects or impaired arterial development, respectively. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,415,818 (GRCm39) Y637F possibly damaging Het
Abcc4 A G 14: 118,753,912 (GRCm39) I1025T probably damaging Het
Adam22 C A 5: 8,217,375 (GRCm39) R140L probably damaging Het
Ahdc1 C A 4: 132,790,003 (GRCm39) L415I possibly damaging Het
Ahdc1 T A 4: 132,790,004 (GRCm39) L415H probably damaging Het
Bivm C A 1: 44,176,159 (GRCm39) S305* probably null Het
Clca4b C T 3: 144,617,800 (GRCm39) D768N probably benign Het
Cobl T A 11: 12,319,602 (GRCm39) N31Y probably damaging Het
Col4a5 G A X: 140,392,846 (GRCm39) C484Y unknown Het
Ctnnd1 T C 2: 84,450,253 (GRCm39) probably benign Het
Dnah5 A G 15: 28,383,771 (GRCm39) T2998A probably benign Het
Dnah9 T A 11: 65,772,445 (GRCm39) probably benign Het
F2 T C 2: 91,456,087 (GRCm39) D558G probably damaging Het
Gle1 T A 2: 29,839,240 (GRCm39) W511R probably damaging Het
Gm11564 C T 11: 99,705,953 (GRCm39) S159N unknown Het
Htr6 A G 4: 138,801,745 (GRCm39) C110R probably damaging Het
Ikbke T A 1: 131,197,934 (GRCm39) S391C probably damaging Het
Itgae T C 11: 73,005,693 (GRCm39) F286L probably damaging Het
Kcnb2 A T 1: 15,780,730 (GRCm39) H534L probably damaging Het
Map1b T C 13: 99,569,544 (GRCm39) Y1059C unknown Het
Mul1 A G 4: 138,165,660 (GRCm39) T106A probably damaging Het
Nf2 T A 11: 4,741,209 (GRCm39) E249V probably damaging Het
Nlrp1a T C 11: 70,996,912 (GRCm39) S965G possibly damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Optc T C 1: 133,829,799 (GRCm39) T204A probably damaging Het
Or51f1d T C 7: 102,701,345 (GRCm39) V280A probably benign Het
Or8k37 T C 2: 86,469,992 (GRCm39) N20S probably benign Het
Pcnx2 C T 8: 126,589,912 (GRCm39) R787Q probably damaging Het
Pim1 G A 17: 29,710,909 (GRCm39) E171K probably damaging Het
Pnpt1 T C 11: 29,088,162 (GRCm39) V191A probably damaging Het
Rbbp8 G A 18: 11,871,671 (GRCm39) R796Q probably benign Het
Serpinb9e A G 13: 33,435,633 (GRCm39) D22G possibly damaging Het
Sit1 C T 4: 43,482,831 (GRCm39) M109I probably benign Het
Slc17a8 A G 10: 89,412,446 (GRCm39) V329A probably benign Het
Smg1 T A 7: 117,748,156 (GRCm39) probably benign Het
Snx7 T A 3: 117,623,320 (GRCm39) probably benign Het
Stat2 A T 10: 128,112,480 (GRCm39) E40V probably damaging Het
Vmn1r61 G T 7: 5,614,288 (GRCm39) L9I probably benign Het
Wbp4 T C 14: 79,708,129 (GRCm39) K163E probably damaging Het
Other mutations in Vegfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Vegfa APN 17 46,336,347 (GRCm39) missense possibly damaging 0.88
R1442:Vegfa UTSW 17 46,336,418 (GRCm39) missense possibly damaging 0.85
R1760:Vegfa UTSW 17 46,336,395 (GRCm39) missense probably damaging 1.00
R1982:Vegfa UTSW 17 46,329,786 (GRCm39) makesense probably null
R2012:Vegfa UTSW 17 46,336,284 (GRCm39) missense probably benign 0.21
R3729:Vegfa UTSW 17 46,335,446 (GRCm39) missense possibly damaging 0.80
R4276:Vegfa UTSW 17 46,342,392 (GRCm39) missense probably benign
R4277:Vegfa UTSW 17 46,342,392 (GRCm39) missense probably benign
R4279:Vegfa UTSW 17 46,342,392 (GRCm39) missense probably benign
R4654:Vegfa UTSW 17 46,336,176 (GRCm39) intron probably benign
R4696:Vegfa UTSW 17 46,339,272 (GRCm39) splice site probably null
R7798:Vegfa UTSW 17 46,342,761 (GRCm39) missense probably damaging 1.00
R7863:Vegfa UTSW 17 46,336,461 (GRCm39) missense probably damaging 1.00
R7946:Vegfa UTSW 17 46,336,377 (GRCm39) missense probably damaging 0.96
R8235:Vegfa UTSW 17 46,342,236 (GRCm39) missense possibly damaging 0.91
R8683:Vegfa UTSW 17 46,342,396 (GRCm39) missense probably benign 0.35
R8756:Vegfa UTSW 17 46,342,465 (GRCm39) missense probably damaging 1.00
R9700:Vegfa UTSW 17 46,342,713 (GRCm39) missense probably damaging 1.00
R9701:Vegfa UTSW 17 46,342,713 (GRCm39) missense probably damaging 1.00
R9733:Vegfa UTSW 17 46,335,401 (GRCm39) missense probably damaging 1.00
X0026:Vegfa UTSW 17 46,336,452 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18