Incidental Mutation 'R7328:Vav3'
ID 569038
Institutional Source Beutler Lab
Gene Symbol Vav3
Ensembl Gene ENSMUSG00000033721
Gene Name vav 3 oncogene
Synonyms A530094I06Rik, Idd18.1
MMRRC Submission 045421-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R7328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 109247969-109593014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109410744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 192 (I192L)
Ref Sequence ENSEMBL: ENSMUSP00000036270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046864]
AlphaFold Q9R0C8
Predicted Effect probably benign
Transcript: ENSMUST00000046864
AA Change: I192L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000036270
Gene: ENSMUSG00000033721
AA Change: I192L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C G 11: 72,060,606 (GRCm39) probably null Het
Abca13 T A 11: 9,241,545 (GRCm39) V1136E probably benign Het
Arl4c C A 1: 88,629,239 (GRCm39) E50* probably null Het
Atxn7l1 T C 12: 33,198,502 (GRCm39) probably null Het
Ctdsp1 A T 1: 74,433,199 (GRCm39) I115F probably damaging Het
Cyp2j5 A G 4: 96,551,450 (GRCm39) V91A probably damaging Het
Dscam T A 16: 96,446,235 (GRCm39) K1469* probably null Het
Elf2 A G 3: 51,174,198 (GRCm39) C110R probably damaging Het
Ephb1 A G 9: 102,072,438 (GRCm39) Y114H probably damaging Het
Ephb2 C T 4: 136,386,245 (GRCm39) probably null Het
Fbxw20 C A 9: 109,061,383 (GRCm39) C122F probably damaging Het
Flnb T C 14: 7,883,788 (GRCm38) I338T possibly damaging Het
Flnb T A 14: 7,894,660 (GRCm38) Y819* probably null Het
Foxo3 A T 10: 42,073,258 (GRCm39) S420T probably benign Het
Herpud1 T C 8: 95,113,248 (GRCm39) V10A possibly damaging Het
Hmcn1 A T 1: 150,514,617 (GRCm39) V3585E possibly damaging Het
Hsdl1 T C 8: 120,292,830 (GRCm39) T202A probably benign Het
Htr1d G A 4: 136,170,614 (GRCm39) S281N probably benign Het
Igkv14-111 T A 6: 68,233,709 (GRCm39) I70N probably damaging Het
Igkv8-34 A G 6: 70,021,328 (GRCm39) S45P probably damaging Het
Inha T C 1: 75,486,760 (GRCm39) Y352H probably damaging Het
Lats1 A T 10: 7,581,311 (GRCm39) M699L possibly damaging Het
Marchf9 T C 10: 126,894,165 (GRCm39) E146G probably damaging Het
Mcm8 T C 2: 132,674,777 (GRCm39) V443A probably benign Het
Melk A T 4: 44,332,931 (GRCm39) S296C probably benign Het
Myo18a T C 11: 77,698,737 (GRCm39) S4P Het
Myof T C 19: 37,904,847 (GRCm39) Y1646C probably damaging Het
Noc4l C A 5: 110,796,789 (GRCm39) A498S possibly damaging Het
Nrxn3 T C 12: 88,762,345 (GRCm39) S131P probably benign Het
Or5ae2 T C 7: 84,506,507 (GRCm39) I312T probably benign Het
Or5ak23 A G 2: 85,244,668 (GRCm39) I185T probably benign Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Or8g23 T C 9: 38,971,857 (GRCm39) Y35C probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Phldb2 T A 16: 45,578,572 (GRCm39) probably null Het
Polr2b C T 5: 77,463,846 (GRCm39) P81L probably damaging Het
Rbfa C A 18: 80,236,454 (GRCm39) G215C probably benign Het
Rdh19 T C 10: 127,692,896 (GRCm39) S188P probably damaging Het
Scn9a T C 2: 66,314,931 (GRCm39) M1596V probably benign Het
Sele A T 1: 163,876,844 (GRCm39) Y40F probably benign Het
Setd1b T A 5: 123,290,442 (GRCm39) V803D unknown Het
Siglecf C T 7: 43,001,691 (GRCm39) T167I possibly damaging Het
Slc39a6 T C 18: 24,733,987 (GRCm39) E234G probably benign Het
Slco1a1 T A 6: 141,882,134 (GRCm39) D145V possibly damaging Het
Son G A 16: 91,455,278 (GRCm39) V1342I probably benign Het
Sybu G A 15: 44,651,190 (GRCm39) P38L not run Het
Taf15 C T 11: 83,375,658 (GRCm39) T41M possibly damaging Het
Tm4sf4 A T 3: 57,333,925 (GRCm39) N71Y probably benign Het
Tm7sf2 C T 19: 6,114,156 (GRCm39) V226I possibly damaging Het
Trim66 C A 7: 109,056,958 (GRCm39) Q1066H probably damaging Het
Tyw1 T C 5: 130,291,685 (GRCm39) V51A probably benign Het
Other mutations in Vav3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- TGAGGTGCATTGATTTAAGCAG -3'
(R):5'- GCCATTCAGTGCACATCTTAG -3'

Sequencing Primer
(F):5'- GGTGCATTGATTTAAGCAGAATATC -3'
(R):5'- TTACACGAGGCAATCCTG -3'
Posted On 2019-09-13