Incidental Mutation 'IGL02189:Vav3'
ID283810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vav3
Ensembl Gene ENSMUSG00000033721
Gene Namevav 3 oncogene
SynonymsIdd18.1, A530094I06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL02189
Quality Score
Status
Chromosome3
Chromosomal Location109340653-109685698 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 109525960 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046864]
Predicted Effect probably benign
Transcript: ENSMUST00000046864
SMART Domains Protein: ENSMUSP00000036270
Gene: ENSMUSG00000033721

DomainStartEndE-ValueType
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,000,230 K57E probably damaging Het
9930111J21Rik1 A T 11: 48,947,421 Y780N probably benign Het
Aadacl2 T C 3: 60,025,188 S375P probably damaging Het
Abi1 A C 2: 23,040,064 M1R probably null Het
Acss1 T C 2: 150,629,868 D322G probably damaging Het
Adam22 G A 5: 8,330,029 R90W possibly damaging Het
Agtpbp1 T C 13: 59,500,461 H515R probably benign Het
BC003331 G T 1: 150,372,033 N356K possibly damaging Het
C3 T C 17: 57,220,113 K779E probably benign Het
Cfhr2 A G 1: 139,821,759 Y162H probably damaging Het
Chchd5 T C 2: 129,133,268 probably benign Het
Csmd1 T A 8: 16,271,606 I493F probably damaging Het
Daam1 A T 12: 71,946,285 R349S unknown Het
Dnah11 T C 12: 118,082,579 E1708G probably benign Het
Epg5 A G 18: 78,012,870 D1753G probably damaging Het
Flt4 T G 11: 49,626,003 C206G probably damaging Het
Fscn1 G T 5: 142,960,620 A58S possibly damaging Het
Gapvd1 A T 2: 34,728,544 N272K probably damaging Het
Gem T A 4: 11,706,121 S70T possibly damaging Het
H2-K1 A G 17: 33,999,492 L150P probably damaging Het
Hsd3b3 T A 3: 98,742,138 I290L probably benign Het
Iws1 A G 18: 32,093,125 R689G probably damaging Het
Klk1b22 A G 7: 44,116,206 probably null Het
Klra4 T A 6: 130,044,142 D230V possibly damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lilra5 A T 7: 4,237,969 M21L probably benign Het
Lrrc20 T A 10: 61,527,108 V44D possibly damaging Het
Mtx1 T G 3: 89,209,317 M426L probably damaging Het
Mylk2 C T 2: 152,915,154 P283L probably damaging Het
Mynn T A 3: 30,613,544 probably benign Het
Olfr1231 A C 2: 89,303,297 C98W probably damaging Het
Parl T A 16: 20,297,703 I116F probably damaging Het
Pdlim3 T C 8: 45,885,593 V5A probably damaging Het
Pld1 G A 3: 28,120,783 V857I probably benign Het
Ptprf T A 4: 118,213,642 probably benign Het
Ptprn A G 1: 75,258,495 S170P possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rps27a C A 11: 29,546,772 Q40H probably damaging Het
Ryr3 A T 2: 112,754,838 probably benign Het
Scube3 G T 17: 28,162,996 C332F probably benign Het
Sh3glb2 T C 2: 30,345,339 probably null Het
Sh3tc2 A G 18: 61,990,622 E818G probably benign Het
Slc16a3 G A 11: 120,956,771 V262I probably benign Het
Sptbn1 T A 11: 30,117,871 D1781V probably damaging Het
Ssr1 C T 13: 37,987,516 probably null Het
Tep1 A G 14: 50,826,826 L2442S probably benign Het
Tonsl A T 15: 76,623,178 V94D possibly damaging Het
Ttc22 A T 4: 106,639,157 H468L probably benign Het
Ttc27 C T 17: 74,729,899 T189M probably damaging Het
Ttn T C 2: 76,890,156 probably benign Het
Ttn T G 2: 76,759,895 I21157L probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Vav3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Vav3 APN 3 109528392 splice site probably benign
IGL01488:Vav3 APN 3 109657944 missense probably damaging 0.99
IGL01649:Vav3 APN 3 109562762 missense probably benign
IGL01675:Vav3 APN 3 109664413 missense probably benign 0.16
IGL03134:Vav3 APN 3 109563094 splice site probably benign
IGL03358:Vav3 APN 3 109647673 missense probably damaging 1.00
PIT4131001:Vav3 UTSW 3 109664435 critical splice donor site probably null
R0511:Vav3 UTSW 3 109664440 splice site probably benign
R0542:Vav3 UTSW 3 109527430 missense probably damaging 1.00
R0630:Vav3 UTSW 3 109424012 missense probably damaging 1.00
R0683:Vav3 UTSW 3 109651813 missense probably benign 0.04
R0833:Vav3 UTSW 3 109647679 missense possibly damaging 0.93
R0836:Vav3 UTSW 3 109647679 missense possibly damaging 0.93
R0940:Vav3 UTSW 3 109562835 missense possibly damaging 0.78
R1561:Vav3 UTSW 3 109494838 critical splice donor site probably null
R1617:Vav3 UTSW 3 109510978 missense probably damaging 1.00
R1760:Vav3 UTSW 3 109341127 missense possibly damaging 0.61
R1834:Vav3 UTSW 3 109506426 missense probably benign 0.06
R1928:Vav3 UTSW 3 109506422 missense possibly damaging 0.94
R2090:Vav3 UTSW 3 109647739 critical splice donor site probably null
R2190:Vav3 UTSW 3 109562814 missense probably damaging 1.00
R2483:Vav3 UTSW 3 109341166 missense probably damaging 1.00
R3124:Vav3 UTSW 3 109628168 critical splice donor site probably null
R3125:Vav3 UTSW 3 109628168 critical splice donor site probably null
R3800:Vav3 UTSW 3 109628039 missense probably benign 0.45
R3919:Vav3 UTSW 3 109527538 missense possibly damaging 0.51
R4693:Vav3 UTSW 3 109563218 splice site probably benign
R4779:Vav3 UTSW 3 109508794 missense possibly damaging 0.88
R5384:Vav3 UTSW 3 109527475 missense possibly damaging 0.92
R5385:Vav3 UTSW 3 109527475 missense possibly damaging 0.92
R5474:Vav3 UTSW 3 109664421 missense probably benign
R5703:Vav3 UTSW 3 109341241 missense probably benign 0.13
R5997:Vav3 UTSW 3 109501461 missense probably damaging 1.00
R6109:Vav3 UTSW 3 109664365 missense probably damaging 1.00
R6110:Vav3 UTSW 3 109664365 missense probably damaging 1.00
R6120:Vav3 UTSW 3 109664365 missense probably damaging 1.00
R6123:Vav3 UTSW 3 109664365 missense probably damaging 1.00
R6124:Vav3 UTSW 3 109664365 missense probably damaging 1.00
R6186:Vav3 UTSW 3 109516067 missense probably damaging 1.00
R6291:Vav3 UTSW 3 109508854 missense possibly damaging 0.82
R6335:Vav3 UTSW 3 109563196 missense probably benign 0.01
R6647:Vav3 UTSW 3 109527416 missense probably benign 0.19
R6849:Vav3 UTSW 3 109521466 missense probably damaging 1.00
R6897:Vav3 UTSW 3 109527494 missense probably damaging 1.00
R7075:Vav3 UTSW 3 109525924 missense possibly damaging 0.47
R7131:Vav3 UTSW 3 109664346 missense probably damaging 1.00
R7328:Vav3 UTSW 3 109503428 missense probably benign 0.10
R7365:Vav3 UTSW 3 109628099 missense possibly damaging 0.67
Posted On2015-04-16