Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01649:Vav3'

102758

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 #

IGL01649

Quality Score

Status

Chromosome

Chromosomal Location

109247969-109593014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109470078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 508 (Y508H)

Ref Sequence

ENSEMBL: ENSMUSP00000036270 (fasta)

Gene Model

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

AlphaFold

Q9R0C8

Predicted Effect

probably benign
Transcript: ENSMUST00000046864
AA Change: Y508H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036270
Gene: ENSMUSG00000033721
AA Change: Y508H

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

noncoding transcript
Transcript: ENSMUST00000126179

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,217,116 (GRCm39)	S220P	probably benign	Het
Adam18	T	C	8: 25,104,912 (GRCm39)	N634S	possibly damaging	Het
Arhgef18	T	A	8: 3,491,211 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,911,541 (GRCm39)	S1518G	probably benign	Het
Cltc	A	G	11: 86,617,226 (GRCm39)	V341A	probably benign	Het
Dlg5	A	G	14: 24,188,759 (GRCm39)	V1721A	probably damaging	Het
Dnah10	A	T	5: 124,809,553 (GRCm39)	I274F	probably damaging	Het
Dock1	T	A	7: 134,379,139 (GRCm39)	L622Q	probably damaging	Het
Dysf	A	G	6: 84,176,821 (GRCm39)	D1960G	probably damaging	Het
Fat3	T	C	9: 16,288,015 (GRCm39)	T503A	possibly damaging	Het
Glb1	A	G	9: 114,253,016 (GRCm39)	Y73C	probably damaging	Het
Gm9396	G	T	3: 129,862,268 (GRCm39)		noncoding transcript	Het
Gml2	G	T	15: 74,696,070 (GRCm39)	E155*	probably null	Het
Ikzf4	G	A	10: 128,471,689 (GRCm39)	R323C	probably damaging	Het
Kiz	A	G	2: 146,731,229 (GRCm39)	T240A	probably benign	Het
Lzts3	T	C	2: 130,477,351 (GRCm39)	K480E	probably damaging	Het
Mcm7	T	C	5: 138,167,698 (GRCm39)	H105R	probably damaging	Het
Mpdz	A	G	4: 81,221,870 (GRCm39)	L1464P	probably damaging	Het
Mrgpra9	A	C	7: 46,884,900 (GRCm39)	L256V	probably benign	Het
Mrpl40	T	C	16: 18,691,329 (GRCm39)	Q127R	probably benign	Het
Myom2	G	T	8: 15,163,755 (GRCm39)	R1003L	probably benign	Het
Nav2	A	G	7: 49,225,477 (GRCm39)	T1806A	probably damaging	Het
Or10x4	T	C	1: 174,218,974 (GRCm39)	L113P	probably damaging	Het
Pibf1	A	T	14: 99,425,199 (GRCm39)	Y562F	possibly damaging	Het
Potefam1	A	T	2: 111,044,921 (GRCm39)		probably benign	Het
Ppm1n	A	T	7: 19,012,122 (GRCm39)		probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Septin8	T	A	11: 53,425,855 (GRCm39)	F143I	possibly damaging	Het
Sestd1	A	G	2: 77,029,389 (GRCm39)	Y330H	probably damaging	Het
Sntg1	C	T	1: 8,752,193 (GRCm39)		probably benign	Het
Stpg2	C	A	3: 139,125,623 (GRCm39)	P472Q	probably damaging	Het
Thbs1	A	G	2: 117,945,463 (GRCm39)	K314R	probably benign	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
IGL01488:Vav3	APN	3	109,565,260 (GRCm39)	missense	probably damaging	0.99
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

2014-01-21