Incidental Mutation 'IGL02431:Vegfb'
| ID |
293152 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vegfb
|
| Ensembl Gene |
ENSMUSG00000024962 |
| Gene Name |
vascular endothelial growth factor B |
| Synonyms |
VEGF-B, Vrf |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02431
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6959841-6965019 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 6963386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025914]
[ENSMUST00000025915]
[ENSMUST00000130048]
[ENSMUST00000179118]
|
| AlphaFold |
P49766 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025914
|
| SMART Domains |
Protein: ENSMUSP00000025914
Gene: ENSMUSG00000024962
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000130048
|
| SMART Domains |
Protein: ENSMUSP00000120860
Gene: ENSMUSG00000024962
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
A |
17: 24,517,958 (GRCm39) |
I784L |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,237,598 (GRCm39) |
V473E |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,706,010 (GRCm39) |
E758G |
probably damaging |
Het |
| C6 |
A |
T |
15: 4,789,343 (GRCm39) |
K263* |
probably null |
Het |
| Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,659,424 (GRCm38) |
N57S |
probably damaging |
Het |
| Col4a3 |
C |
T |
1: 82,657,344 (GRCm39) |
Q815* |
probably null |
Het |
| Dcaf10 |
A |
G |
4: 45,342,630 (GRCm39) |
M155V |
probably benign |
Het |
| Fam228b |
T |
C |
12: 4,812,370 (GRCm39) |
Y136C |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,255,651 (GRCm39) |
H793Q |
probably benign |
Het |
| Gm10134 |
T |
C |
2: 28,396,429 (GRCm39) |
|
probably benign |
Het |
| Gm6505 |
T |
C |
3: 28,819,169 (GRCm39) |
|
noncoding transcript |
Het |
| Il31ra |
A |
G |
13: 112,666,830 (GRCm39) |
F416S |
probably damaging |
Het |
| Lipc |
A |
G |
9: 70,841,750 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,306,982 (GRCm39) |
K368E |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,036,500 (GRCm39) |
N884K |
probably damaging |
Het |
| Mrgprx1 |
T |
C |
7: 47,670,875 (GRCm39) |
R291G |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,401,465 (GRCm39) |
V3057E |
possibly damaging |
Het |
| Or11g1 |
T |
A |
14: 50,651,226 (GRCm39) |
I75N |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,413 (GRCm39) |
R167S |
probably benign |
Het |
| Postn |
A |
T |
3: 54,282,517 (GRCm39) |
I493F |
probably damaging |
Het |
| Ptpn22 |
C |
A |
3: 103,810,713 (GRCm39) |
F713L |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,438,148 (GRCm39) |
V239A |
probably damaging |
Het |
| Rangrf |
C |
A |
11: 68,863,565 (GRCm39) |
C147F |
probably benign |
Het |
| Rnf112 |
C |
T |
11: 61,341,205 (GRCm39) |
R460H |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,014,305 (GRCm39) |
E423G |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,624,736 (GRCm39) |
V1738A |
possibly damaging |
Het |
| Tipin |
A |
G |
9: 64,208,467 (GRCm39) |
K204E |
probably benign |
Het |
| Traf3ip1 |
A |
T |
1: 91,427,357 (GRCm39) |
Q109L |
unknown |
Het |
| Ttc21b |
A |
T |
2: 66,082,229 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
A |
2: 76,804,460 (GRCm39) |
A271S |
probably benign |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,888 (GRCm39) |
L252H |
possibly damaging |
Het |
| Wipi1 |
A |
T |
11: 109,494,617 (GRCm39) |
V72D |
probably damaging |
Het |
| Zmym1 |
G |
A |
4: 126,941,557 (GRCm39) |
Q944* |
probably null |
Het |
|
| Other mutations in Vegfb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Vegfb
|
APN |
19 |
6,963,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02365:Vegfb
|
APN |
19 |
6,962,855 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2040:Vegfb
|
UTSW |
19 |
6,963,407 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2312:Vegfb
|
UTSW |
19 |
6,962,795 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3777:Vegfb
|
UTSW |
19 |
6,964,767 (GRCm39) |
unclassified |
probably benign |
|
|
R4152:Vegfb
|
UTSW |
19 |
6,963,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Vegfb
|
UTSW |
19 |
6,963,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Vegfb
|
UTSW |
19 |
6,960,214 (GRCm39) |
makesense |
probably null |
|
|
R7804:Vegfb
|
UTSW |
19 |
6,963,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Vegfb
|
UTSW |
19 |
6,962,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8673:Vegfb
|
UTSW |
19 |
6,962,812 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation