Mutagenetix > Incidental Mutation

Incidental Mutation 'R1982:Vegfa'

220035

Institutional Source

Beutler Lab

Gene Symbol

Vegfa

Ensembl Gene

ENSMUSG00000023951

Gene Name

vascular endothelial growth factor A

Synonyms

VEGF-A, VEGF120, VEGF188, VEGF164, VPF, Vegf

MMRRC Submission

039994-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46327919-46343295 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to C at 46329786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glycine at position 393 (*393G)

Ref Sequence

ENSEMBL: ENSMUSP00000151185 (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 null
Transcript: ENSMUST00000024747
AA Change: *147G

SMART Domains

Protein: ENSMUSP00000024747
Gene: ENSMUSG00000023951
AA Change: *147G

Domain	Start	End	E-Value	Type
PDGF	49	131	1.48e-49	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000071648
AA Change: *369G

SMART Domains

Protein: ENSMUSP00000071575
Gene: ENSMUSG00000023951
AA Change: *369G

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000113519
AA Change: *171G

SMART Domains

Protein: ENSMUSP00000109147
Gene: ENSMUSG00000023951
AA Change: *171G

Domain	Start	End	E-Value	Type
PDGF	49	131	1.48e-49	SMART
low complexity region	140	161	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113520
AA Change: *209G

SMART Domains

Protein: ENSMUSP00000109148
Gene: ENSMUSG00000023951
AA Change: *209G

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000142351
AA Change: *393G

SMART Domains

Protein: ENSMUSP00000115883
Gene: ENSMUSG00000023951
AA Change: *393G

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000167860
AA Change: *325G

SMART Domains

Protein: ENSMUSP00000131901
Gene: ENSMUSG00000023951
AA Change: *325G

Domain	Start	End	E-Value	Type
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: ENSMUST00000150327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143985

Predicted Effect

probably null
Transcript: ENSMUST00000214739
AA Change: *369G

Predicted Effect

probably null
Transcript: ENSMUST00000217017
AA Change: *393G

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	T	11: 119,904,340 (GRCm39)	P252Q	probably damaging	Het
Adamts4	T	C	1: 171,086,503 (GRCm39)	V765A	probably benign	Het
Agfg2	A	T	5: 137,662,515 (GRCm39)	V184E	possibly damaging	Het
Alas1	A	T	9: 106,115,384 (GRCm39)	I48N	probably damaging	Het
Anks1	T	C	17: 28,204,095 (GRCm39)	V181A	probably damaging	Het
Anxa8	A	T	14: 33,818,527 (GRCm39)	R261S	probably damaging	Het
Aqp4	T	C	18: 15,526,608 (GRCm39)	D291G	probably damaging	Het
Atrn	A	G	2: 130,812,142 (GRCm39)	R696G	probably benign	Het
Barx2	A	C	9: 31,824,308 (GRCm39)	I27S	probably damaging	Het
Btnl1	A	T	17: 34,598,725 (GRCm39)	I114L	possibly damaging	Het
Casq1	C	T	1: 172,043,097 (GRCm39)	A200T	probably damaging	Het
Ccdc33	T	A	9: 58,024,451 (GRCm39)	E225D	probably benign	Het
Cd84	C	A	1: 171,712,152 (GRCm39)		probably null	Het
Ceacam9	T	G	7: 16,459,232 (GRCm39)	L177R	probably benign	Het
Cenpi	T	A	X: 133,218,782 (GRCm39)	F161L	possibly damaging	Het
Cep63	T	C	9: 102,480,079 (GRCm39)	K251E	probably damaging	Het
Cetn3	A	G	13: 81,932,816 (GRCm39)	E25G	probably damaging	Het
Crybg3	T	C	16: 59,364,488 (GRCm39)	D2378G	possibly damaging	Het
Ddx19b	T	C	8: 111,735,975 (GRCm39)	T357A	possibly damaging	Het
Dpep2	A	C	8: 106,716,087 (GRCm39)	Y266*	probably null	Het
Dqx1	G	A	6: 83,035,558 (GRCm39)	D24N	probably damaging	Het
Dsg4	A	T	18: 20,604,269 (GRCm39)	Y912F	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Fmo1	T	C	1: 162,667,325 (GRCm39)	I163M	possibly damaging	Het
Garin1a	A	G	6: 29,285,921 (GRCm39)	T69A	probably benign	Het
Gatad2a	G	A	8: 70,365,782 (GRCm39)	R428*	probably null	Het
Gfpt1	T	A	6: 87,031,612 (GRCm39)	F85I	possibly damaging	Het
Gimap7	A	T	6: 48,701,175 (GRCm39)	I254F	possibly damaging	Het
Glcci1	T	C	6: 8,592,980 (GRCm39)	S261P	probably damaging	Het
Glis3	A	T	19: 28,508,674 (GRCm39)	F437I	probably damaging	Het
Glp1r	C	A	17: 31,144,601 (GRCm39)	S258*	probably null	Het
Gpt2	C	T	8: 86,242,832 (GRCm39)	A288V	possibly damaging	Het
Grin2c	G	T	11: 115,151,731 (GRCm39)	S76R	possibly damaging	Het
Guf1	T	A	5: 69,724,569 (GRCm39)	Y447*	probably null	Het
H2-T9	T	A	17: 36,439,614 (GRCm39)	D122V	probably damaging	Het
Hectd1	A	C	12: 51,832,624 (GRCm39)	L916V	probably damaging	Het
Hnf4g	A	G	3: 3,703,268 (GRCm39)	K96E	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifi207	T	G	1: 173,562,805 (GRCm39)	M114L	probably benign	Het
Ifi35	A	T	11: 101,349,112 (GRCm39)	E252V	probably damaging	Het
Igsf9b	G	A	9: 27,233,535 (GRCm39)	R345H	possibly damaging	Het
Itih3	T	C	14: 30,645,540 (GRCm39)		probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kidins220	A	T	12: 25,101,193 (GRCm39)	M1252L	probably benign	Het
Kifap3	T	A	1: 163,689,591 (GRCm39)	L525*	probably null	Het
Limk2	A	T	11: 3,305,461 (GRCm39)	D35E	probably benign	Het
Lrrc37a	G	A	11: 103,389,792 (GRCm39)	P1878S	probably benign	Het
Mansc4	T	A	6: 146,977,173 (GRCm39)	I148F	probably benign	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mroh8	A	G	2: 157,113,895 (GRCm39)	V132A	possibly damaging	Het
Npnt	T	C	3: 132,653,893 (GRCm39)	I29M	probably benign	Het
Nrap	T	C	19: 56,372,537 (GRCm39)	D138G	probably damaging	Het
Or10a3m	A	G	7: 108,312,902 (GRCm39)	Y102C	probably damaging	Het
Or1e16	A	T	11: 73,285,918 (GRCm39)	I310N	probably benign	Het
Or2h1	T	A	17: 37,404,700 (GRCm39)	E22V	probably damaging	Het
Or6z7	T	C	7: 6,483,931 (GRCm39)	M75V	probably benign	Het
Osbpl5	A	C	7: 143,295,408 (GRCm39)		probably null	Het
Pcna-ps2	T	C	19: 9,261,047 (GRCm39)	V102A	possibly damaging	Het
Pik3c2g	T	C	6: 139,599,546 (GRCm39)	S221P	probably damaging	Het
Plppr3	A	G	10: 79,702,259 (GRCm39)	I271T	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Pramel25	C	A	4: 143,521,720 (GRCm39)	H445Q	probably benign	Het
Prkar1b	C	T	5: 139,113,398 (GRCm39)	A41T	probably benign	Het
Prkcsh	A	G	9: 21,924,164 (GRCm39)	D458G	probably damaging	Het
Prr14	G	T	7: 127,074,662 (GRCm39)	R398L	possibly damaging	Het
Ptafr	A	G	4: 132,307,296 (GRCm39)	R229G	probably damaging	Het
Rbp3	T	C	14: 33,676,502 (GRCm39)	F150S	probably damaging	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rlf	T	C	4: 121,007,309 (GRCm39)	Y557C	probably damaging	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Selenop	A	T	15: 3,305,176 (GRCm39)	I111F	probably damaging	Het
Slc2a2	G	A	3: 28,771,590 (GRCm39)	M173I	probably benign	Het
Slc43a1	G	T	2: 84,687,233 (GRCm39)	G361V	possibly damaging	Het
Slit2	G	A	5: 48,407,178 (GRCm39)	V870M	probably damaging	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Stk32b	T	A	5: 37,806,458 (GRCm39)	I29F	probably damaging	Het
Stra6l	T	A	4: 45,867,237 (GRCm39)	C161*	probably null	Het
Tecpr2	T	A	12: 110,921,219 (GRCm39)	M1264K	probably benign	Het
Tfap2c	A	T	2: 172,399,156 (GRCm39)	I468F	probably damaging	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tlr4	T	A	4: 66,759,272 (GRCm39)	N688K	probably benign	Het
Tmem35b	A	T	4: 127,019,846 (GRCm39)		probably benign	Het
Ugt2b34	T	C	5: 87,054,172 (GRCm39)	E203G	probably damaging	Het
Vmn2r16	T	C	5: 109,511,890 (GRCm39)	V699A	probably benign	Het
Zfp324	T	C	7: 12,705,145 (GRCm39)	S445P	probably damaging	Het
Zfp982	T	A	4: 147,597,049 (GRCm39)	C135*	probably null	Het
Zfp990	A	C	4: 145,263,439 (GRCm39)	N146H	probably damaging	Het
Zfyve26	A	G	12: 79,302,017 (GRCm39)	Y431H	possibly damaging	Het

Other mutations in Vegfa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01355:Vegfa	APN	17	46,336,347 (GRCm39)	missense	possibly damaging	0.88
IGL02859:Vegfa	APN	17	46,335,421 (GRCm39)	missense	probably benign	0.43
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCAAAGTGCTCCTCGAAG -3'
(R):5'- TTGTGAGCATTTATTCCCATGTCTG -3'

Sequencing Primer
(F):5'- AGAGTCTCCTCTTCCTTCATGTCAG -3'
(R):5'- CCATCTTTAGAAGGCAGGGC -3'

Posted On

2014-08-25