Incidental Mutation 'IGL01355:Vegfa'
ID75491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vegfa
Ensembl Gene ENSMUSG00000023951
Gene Namevascular endothelial growth factor A
SynonymsVEGF-A, VPF, VEGF164, VEGF120, VEGF188, Vegf
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01355
Quality Score
Status
Chromosome17
Chromosomal Location46016993-46032369 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46025421 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 258 (M258V)
Ref Sequence ENSEMBL: ENSMUSP00000149539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024747] [ENSMUST00000071648] [ENSMUST00000113519] [ENSMUST00000113520] [ENSMUST00000142351] [ENSMUST00000167860] [ENSMUST00000214739] [ENSMUST00000217017]
Predicted Effect probably benign
Transcript: ENSMUST00000024747
AA Change: M80V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024747
Gene: ENSMUSG00000023951
AA Change: M80V

DomainStartEndE-ValueType
PDGF 49 131 1.48e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000071648
AA Change: M258V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000071575
Gene: ENSMUSG00000023951
AA Change: M258V

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: M80V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109147
Gene: ENSMUSG00000023951
AA Change: M80V

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: M80V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109148
Gene: ENSMUSG00000023951
AA Change: M80V

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: M258V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000115883
Gene: ENSMUSG00000023951
AA Change: M258V

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 noncoding transcript
Transcript: ENSMUST00000143985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150327
Predicted Effect probably benign
Transcript: ENSMUST00000167860
AA Change: M258V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131901
Gene: ENSMUSG00000023951
AA Change: M258V

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 possibly damaging
Transcript: ENSMUST00000214739
AA Change: M258V

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000217017
AA Change: M258V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 C T 4: 153,386,481 V290I probably damaging Het
Ankrd12 A G 17: 65,970,340 probably benign Het
Anxa4 A T 6: 86,752,205 I140N probably damaging Het
Asap2 A G 12: 21,218,086 probably benign Het
Cd36 C T 5: 17,813,074 V214I possibly damaging Het
Col24a1 T C 3: 145,314,876 L336S probably benign Het
Dcc C T 18: 71,809,114 V311I probably benign Het
Gpr146 A T 5: 139,378,904 probably benign Het
Irf1 T C 11: 53,774,361 V188A probably benign Het
Limk1 G A 5: 134,657,900 probably benign Het
Mcidas T C 13: 112,999,069 F342S probably damaging Het
Mctp1 A G 13: 76,384,955 T141A probably benign Het
Mnd1 C A 3: 84,116,477 A101S probably benign Het
Nsun7 T C 5: 66,294,868 S466P probably damaging Het
Olfr1279 T A 2: 111,307,093 I296K probably benign Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr617 A G 7: 103,584,373 E117G probably damaging Het
Pik3c2g G T 6: 139,852,857 G371V probably damaging Het
Sdad1 A G 5: 92,302,679 V199A probably damaging Het
Spg11 C T 2: 122,113,156 V172I probably benign Het
Tas2r108 A G 6: 40,493,751 T54A possibly damaging Het
Tmem121b A G 6: 120,492,466 L430P probably damaging Het
Traf3ip1 A G 1: 91,518,297 D384G probably damaging Het
Trank1 A G 9: 111,365,520 T871A possibly damaging Het
Zbtb49 A G 5: 38,210,616 probably null Het
Other mutations in Vegfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02859:Vegfa APN 17 46024495 missense probably benign 0.43
R1442:Vegfa UTSW 17 46025492 missense possibly damaging 0.85
R1760:Vegfa UTSW 17 46025469 missense probably damaging 1.00
R1982:Vegfa UTSW 17 46018860 makesense probably null
R2012:Vegfa UTSW 17 46025358 missense probably benign 0.21
R3729:Vegfa UTSW 17 46024520 missense possibly damaging 0.80
R4276:Vegfa UTSW 17 46031466 missense probably benign
R4277:Vegfa UTSW 17 46031466 missense probably benign
R4279:Vegfa UTSW 17 46031466 missense probably benign
R4654:Vegfa UTSW 17 46025250 intron probably benign
R4696:Vegfa UTSW 17 46028346 splice site probably null
X0026:Vegfa UTSW 17 46025526 missense probably damaging 1.00
Posted On2013-10-07