Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01488:Vav3'

88793

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vav3

Ensembl Gene

ENSMUSG00000033721

Gene Name

vav 3 oncogene

Synonyms

A530094I06Rik, Idd18.1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

IGL01488

Quality Score

Status

Chromosome

Chromosomal Location

109247969-109593014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 109565260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 159 (I159L)

Ref Sequence

ENSEMBL: ENSMUSP00000102186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046864] [ENSMUST00000106576]

AlphaFold

Q9R0C8

Predicted Effect

probably benign
Transcript: ENSMUST00000046864
AA Change: I719L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000036270
Gene: ENSMUSG00000033721
AA Change: I719L

Domain	Start	End	E-Value	Type
CH	3	115	2.1e-18	SMART
low complexity region	160	175	N/A	INTRINSIC
RhoGEF	196	370	5.09e-56	SMART
PH	401	504	1.88e-9	SMART
C1	514	562	2.17e-11	SMART
SH3	595	659	6.4e-6	SMART
SH2	670	752	2.59e-26	SMART
SH3	791	847	8.96e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106576
AA Change: I159L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102186
Gene: ENSMUSG00000033721
AA Change: I159L

Domain	Start	End	E-Value	Type
SH3	35	99	3.8e-8	SMART
SH2	110	192	1.6e-28	SMART
SH3	233	289	5.5e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148866

SMART Domains

Protein: ENSMUSP00000121660
Gene: ENSMUSG00000033721

Domain	Start	End	E-Value	Type
SH2	33	115	2.59e-26	SMART
PDB:2KBT\|A	149	179	6e-6	PDB
Blast:SH3	154	179	2e-10	BLAST

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 is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in tachycardia, systemic arterial hypertension, cardiovascular remodeling, hyperactivity of sympathetic neurons and thus high catecholamine levels, and increased levels of kidney-related hormones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc3	T	C	11: 101,228,304 (GRCm39)	F424L	possibly damaging	Het
Cep170	A	G	1: 176,583,941 (GRCm39)	S813P	probably benign	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Dag1	C	A	9: 108,085,502 (GRCm39)	E546D	probably benign	Het
Espl1	G	A	15: 102,207,174 (GRCm39)	D213N	probably benign	Het
Fbxo47	A	G	11: 97,759,504 (GRCm39)		probably benign	Het
Gcnt7	A	G	2: 172,296,209 (GRCm39)	V205A	probably damaging	Het
Il1b	A	G	2: 129,209,154 (GRCm39)		probably benign	Het
Klk10	T	A	7: 43,434,400 (GRCm39)	I264N	probably damaging	Het
Lemd3	A	T	10: 120,769,304 (GRCm39)	C646*	probably null	Het
Mcm3	A	T	1: 20,883,280 (GRCm39)	V313D	possibly damaging	Het
Mylk3	C	T	8: 86,078,656 (GRCm39)	V413I	probably damaging	Het
Or1p1	T	C	11: 74,179,514 (GRCm39)	L14P	probably damaging	Het
Or4k6	A	T	14: 50,475,595 (GRCm39)	M249K	possibly damaging	Het
Rfx2	T	A	17: 57,112,398 (GRCm39)	Q45L	probably damaging	Het
Selplg	T	A	5: 113,957,697 (GRCm39)	E203V	possibly damaging	Het
Slc12a6	A	G	2: 112,183,409 (GRCm39)		probably null	Het
Slc4a3	A	G	1: 75,525,520 (GRCm39)	S207G	probably benign	Het
Trhde	C	T	10: 114,282,063 (GRCm39)	V805I	possibly damaging	Het

Other mutations in Vav3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Vav3	APN	3	109,435,708 (GRCm39)	splice site	probably benign
IGL01649:Vav3	APN	3	109,470,078 (GRCm39)	missense	probably benign
IGL01675:Vav3	APN	3	109,571,729 (GRCm39)	missense	probably benign	0.16
IGL02189:Vav3	APN	3	109,433,276 (GRCm39)	splice site	probably benign
IGL03134:Vav3	APN	3	109,470,410 (GRCm39)	splice site	probably benign
IGL03358:Vav3	APN	3	109,554,989 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Vav3	UTSW	3	109,571,751 (GRCm39)	critical splice donor site	probably null
R0511:Vav3	UTSW	3	109,571,756 (GRCm39)	splice site	probably benign
R0542:Vav3	UTSW	3	109,434,746 (GRCm39)	missense	probably damaging	1.00
R0630:Vav3	UTSW	3	109,331,328 (GRCm39)	missense	probably damaging	1.00
R0683:Vav3	UTSW	3	109,559,129 (GRCm39)	missense	probably benign	0.04
R0833:Vav3	UTSW	3	109,554,995 (GRCm39)	missense	possibly damaging	0.93
R0836:Vav3	UTSW	3	109,554,995 (GRCm39)	missense	possibly damaging	0.93
R0940:Vav3	UTSW	3	109,470,151 (GRCm39)	missense	possibly damaging	0.78
R1561:Vav3	UTSW	3	109,402,154 (GRCm39)	critical splice donor site	probably null
R1617:Vav3	UTSW	3	109,418,294 (GRCm39)	missense	probably damaging	1.00
R1760:Vav3	UTSW	3	109,248,443 (GRCm39)	missense	possibly damaging	0.61
R1834:Vav3	UTSW	3	109,413,742 (GRCm39)	missense	probably benign	0.06
R1928:Vav3	UTSW	3	109,413,738 (GRCm39)	missense	possibly damaging	0.94
R2090:Vav3	UTSW	3	109,555,055 (GRCm39)	critical splice donor site	probably null
R2190:Vav3	UTSW	3	109,470,130 (GRCm39)	missense	probably damaging	1.00
R2483:Vav3	UTSW	3	109,248,482 (GRCm39)	missense	probably damaging	1.00
R3124:Vav3	UTSW	3	109,535,484 (GRCm39)	critical splice donor site	probably null
R3125:Vav3	UTSW	3	109,535,484 (GRCm39)	critical splice donor site	probably null
R3800:Vav3	UTSW	3	109,535,355 (GRCm39)	missense	probably benign	0.45
R3919:Vav3	UTSW	3	109,434,854 (GRCm39)	missense	possibly damaging	0.51
R4693:Vav3	UTSW	3	109,470,534 (GRCm39)	splice site	probably benign
R4779:Vav3	UTSW	3	109,416,110 (GRCm39)	missense	possibly damaging	0.88
R5384:Vav3	UTSW	3	109,434,791 (GRCm39)	missense	possibly damaging	0.92
R5385:Vav3	UTSW	3	109,434,791 (GRCm39)	missense	possibly damaging	0.92
R5474:Vav3	UTSW	3	109,571,737 (GRCm39)	missense	probably benign
R5703:Vav3	UTSW	3	109,248,557 (GRCm39)	missense	probably benign	0.13
R5997:Vav3	UTSW	3	109,408,777 (GRCm39)	missense	probably damaging	1.00
R6109:Vav3	UTSW	3	109,571,681 (GRCm39)	missense	probably damaging	1.00
R6110:Vav3	UTSW	3	109,571,681 (GRCm39)	missense	probably damaging	1.00
R6120:Vav3	UTSW	3	109,571,681 (GRCm39)	missense	probably damaging	1.00
R6123:Vav3	UTSW	3	109,571,681 (GRCm39)	missense	probably damaging	1.00
R6124:Vav3	UTSW	3	109,571,681 (GRCm39)	missense	probably damaging	1.00
R6186:Vav3	UTSW	3	109,423,383 (GRCm39)	missense	probably damaging	1.00
R6291:Vav3	UTSW	3	109,416,170 (GRCm39)	missense	possibly damaging	0.82
R6335:Vav3	UTSW	3	109,470,512 (GRCm39)	missense	probably benign	0.01
R6647:Vav3	UTSW	3	109,434,732 (GRCm39)	missense	probably benign	0.19
R6849:Vav3	UTSW	3	109,428,782 (GRCm39)	missense	probably damaging	1.00
R6897:Vav3	UTSW	3	109,434,810 (GRCm39)	missense	probably damaging	1.00
R7075:Vav3	UTSW	3	109,433,240 (GRCm39)	missense	possibly damaging	0.47
R7131:Vav3	UTSW	3	109,571,662 (GRCm39)	missense	probably damaging	1.00
R7328:Vav3	UTSW	3	109,410,744 (GRCm39)	missense	probably benign	0.10
R7365:Vav3	UTSW	3	109,535,415 (GRCm39)	missense	possibly damaging	0.67
R7991:Vav3	UTSW	3	109,470,478 (GRCm39)	missense	probably damaging	1.00
R8151:Vav3	UTSW	3	109,416,164 (GRCm39)	missense	probably benign
R8164:Vav3	UTSW	3	109,248,368 (GRCm39)	missense	probably benign
R8170:Vav3	UTSW	3	109,331,323 (GRCm39)	missense	probably damaging	1.00
R8527:Vav3	UTSW	3	109,410,787 (GRCm39)	missense	probably damaging	0.98
R8542:Vav3	UTSW	3	109,410,787 (GRCm39)	missense	probably damaging	0.98
R8734:Vav3	UTSW	3	109,565,285 (GRCm39)	missense	probably benign	0.00
R8828:Vav3	UTSW	3	109,555,051 (GRCm39)	missense	probably benign	0.00
R8963:Vav3	UTSW	3	109,590,229 (GRCm39)	missense	probably damaging	1.00
R9032:Vav3	UTSW	3	109,413,722 (GRCm39)	missense	probably benign
R9085:Vav3	UTSW	3	109,413,722 (GRCm39)	missense	probably benign
R9387:Vav3	UTSW	3	109,565,291 (GRCm39)	missense	probably benign	0.39
R9393:Vav3	UTSW	3	109,485,682 (GRCm39)	critical splice donor site	probably null
R9429:Vav3	UTSW	3	109,564,561 (GRCm39)	nonsense	probably null

Posted On

2013-11-18