Incidental Mutation 'R1872:Vav1'
ID 210897
Institutional Source Beutler Lab
Gene Symbol Vav1
Ensembl Gene ENSMUSG00000034116
Gene Name vav 1 oncogene
Synonyms
MMRRC Submission 039894-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # R1872 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 57586100-57635031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 57631750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 775 (K775T)
Ref Sequence ENSEMBL: ENSMUSP00000108491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005889] [ENSMUST00000112870] [ENSMUST00000169220]
AlphaFold P27870
Predicted Effect probably damaging
Transcript: ENSMUST00000005889
AA Change: K814T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005889
Gene: ENSMUSG00000034116
AA Change: K814T

DomainStartEndE-ValueType
CH 3 115 5.69e-15 SMART
RhoGEF 198 372 7.89e-62 SMART
PH 403 506 8.45e-12 SMART
C1 516 564 3.67e-9 SMART
SH3 595 659 1.65e-8 SMART
SH2 669 751 8.88e-25 SMART
SH3 785 841 1.44e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000008847
Predicted Effect probably damaging
Transcript: ENSMUST00000112870
AA Change: K775T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108491
Gene: ENSMUSG00000034116
AA Change: K775T

DomainStartEndE-ValueType
CH 3 115 5.69e-15 SMART
RhoGEF 198 372 7.89e-62 SMART
PH 403 506 8.45e-12 SMART
C1 516 564 3.67e-9 SMART
SH3 595 659 1.65e-8 SMART
SH2 633 712 3.93e-2 SMART
SH3 746 802 1.44e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169220
AA Change: K790T

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126694
Gene: ENSMUSG00000034116
AA Change: K790T

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 27 79 6.2e-11 PFAM
RhoGEF 174 348 7.89e-62 SMART
PH 379 482 8.45e-12 SMART
C1 492 540 3.67e-9 SMART
SH3 571 635 1.65e-8 SMART
SH2 645 727 8.88e-25 SMART
SH3 761 817 1.44e-22 SMART
Meta Mutation Damage Score 0.5931 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 97% (113/117)
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. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous null mutants exhibit defective T cell maturation, interleukin-2 production, and cell cycle progression. Immunoglobulin class switching is also impaired and attributed to defective T cell help. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik C T 3: 124,350,493 (GRCm39) C133Y unknown Het
Abce1 A G 8: 80,416,880 (GRCm39) M377T possibly damaging Het
Adam25 A T 8: 41,208,263 (GRCm39) R510* probably null Het
Adamts12 G T 15: 11,217,966 (GRCm39) E308* probably null Het
Adgrg3 C A 8: 95,760,070 (GRCm39) N96K possibly damaging Het
Afdn T C 17: 14,101,578 (GRCm39) V1022A probably damaging Het
Akap9 T C 5: 4,051,406 (GRCm39) V1391A probably damaging Het
Akip1 A G 7: 109,310,982 (GRCm39) Y174C probably damaging Het
Aoc1l1 A G 6: 48,952,554 (GRCm39) I160V probably benign Het
Ap3b2 T C 7: 81,113,898 (GRCm39) T830A unknown Het
Aph1a A G 3: 95,802,876 (GRCm39) T159A probably damaging Het
Ccdc146 T C 5: 21,506,288 (GRCm39) T718A probably benign Het
Cdk5r2 T C 1: 74,894,981 (GRCm39) L242P probably damaging Het
Cep97 T A 16: 55,748,229 (GRCm39) N67I probably damaging Het
Cgas T C 9: 78,340,484 (GRCm39) D416G probably benign Het
Chic2 A T 5: 75,172,140 (GRCm39) W121R possibly damaging Het
Clock A G 5: 76,396,309 (GRCm39) S147P possibly damaging Het
Cntnap5a T G 1: 116,016,940 (GRCm39) S178A probably benign Het
Col11a2 C A 17: 34,281,529 (GRCm39) probably benign Het
Col6a3 T A 1: 90,757,936 (GRCm39) H6L probably damaging Het
Cpne5 T C 17: 29,423,667 (GRCm39) N154D probably benign Het
Ctsz T G 2: 174,269,769 (GRCm39) K273Q probably benign Het
Cybrd1 G A 2: 70,960,104 (GRCm39) V101M probably benign Het
Cyp2c23 T A 19: 43,993,990 (GRCm39) K459* probably null Het
Cyp4a31 A T 4: 115,431,933 (GRCm39) H419L probably damaging Het
D930020B18Rik G A 10: 121,477,879 (GRCm39) V35M probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Dnah9 C T 11: 65,928,316 (GRCm39) V2118M probably benign Het
Dtna T C 18: 23,730,617 (GRCm39) probably null Het
Ednra C T 8: 78,447,025 (GRCm39) V18I possibly damaging Het
Elac1 T C 18: 73,875,717 (GRCm39) R105G probably benign Het
Exoc2 A G 13: 31,006,644 (GRCm39) S844P probably benign Het
Fam185a A T 5: 21,685,328 (GRCm39) probably null Het
Fam204a A G 19: 60,187,881 (GRCm39) M233T possibly damaging Het
Fat1 C A 8: 45,406,341 (GRCm39) H1031N probably benign Het
Fat1 T A 8: 45,491,386 (GRCm39) Y3816N probably damaging Het
Fbxo38 C T 18: 62,650,094 (GRCm39) R621Q probably benign Het
Fhod3 C A 18: 25,263,667 (GRCm39) R1524S probably damaging Het
Fnip1 A T 11: 54,378,561 (GRCm39) R192W probably damaging Het
Frem3 T A 8: 81,339,205 (GRCm39) H499Q probably damaging Het
Gab2 C T 7: 96,948,250 (GRCm39) T280I probably damaging Het
Gdpgp1 A G 7: 79,888,172 (GRCm39) R68G probably benign Het
Gm10382 C T 5: 125,466,624 (GRCm39) probably benign Het
Gmps A G 3: 63,908,938 (GRCm39) H480R probably benign Het
Hecw1 G A 13: 14,455,034 (GRCm39) R674* probably null Het
Herc2 T A 7: 55,807,257 (GRCm39) F2478L probably benign Het
Homer2 C T 7: 81,286,150 (GRCm39) V21M probably damaging Het
Ifna9 A G 4: 88,510,492 (GRCm39) M44T probably damaging Het
Igfl3 A G 7: 17,913,821 (GRCm39) D57G possibly damaging Het
Jcad T C 18: 4,673,048 (GRCm39) M270T probably benign Het
Kdm5b T C 1: 134,552,732 (GRCm39) L1236P probably damaging Het
Kif14 T A 1: 136,414,096 (GRCm39) L724Q probably damaging Het
Lhb T C 7: 45,070,757 (GRCm39) V45A probably damaging Het
Lhpp A G 7: 132,235,816 (GRCm39) N134D probably benign Het
Mas1 T C 17: 13,061,078 (GRCm39) Y115C probably damaging Het
Mgam A T 6: 40,638,234 (GRCm39) K395* probably null Het
Mms22l A G 4: 24,598,807 (GRCm39) N1134S probably damaging Het
Mrc1 A G 2: 14,330,192 (GRCm39) probably null Het
Mrgprg G A 7: 143,318,281 (GRCm39) S277L probably damaging Het
Mrpl49 G T 19: 6,107,010 (GRCm39) P60T possibly damaging Het
Mrps10 G A 17: 47,683,377 (GRCm39) G104D possibly damaging Het
Msantd3 A G 4: 48,552,771 (GRCm39) Y120C probably damaging Het
Mtcl2 A G 2: 156,882,181 (GRCm39) C624R possibly damaging Het
N4bp2 C T 5: 65,951,861 (GRCm39) probably benign Het
Nbea A G 3: 55,550,310 (GRCm39) V2706A probably benign Het
Nfic T A 10: 81,256,518 (GRCm39) M71L possibly damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or12e1 A G 2: 87,022,222 (GRCm39) T64A possibly damaging Het
Or14j4 G T 17: 37,920,803 (GRCm39) P280T probably damaging Het
Or4a15 A G 2: 89,192,933 (GRCm39) L280P probably damaging Het
Or4c105 T A 2: 88,648,280 (GRCm39) V255E probably benign Het
Pak5 T C 2: 135,927,508 (GRCm39) I655V possibly damaging Het
Pip5k1c A G 10: 81,142,153 (GRCm39) N121S probably damaging Het
Plce1 A T 19: 38,748,521 (GRCm39) I1737F probably damaging Het
Prrt1 T C 17: 34,849,925 (GRCm39) L113P probably damaging Het
Ptprq T A 10: 107,479,860 (GRCm39) T1137S probably benign Het
Recql5 T C 11: 115,814,135 (GRCm39) I223V probably benign Het
Reg3g A T 6: 78,444,836 (GRCm39) Y47* probably null Het
Rgs12 T G 5: 35,123,165 (GRCm39) M316R probably damaging Het
Ric1 T C 19: 29,580,068 (GRCm39) S1290P probably benign Het
Rpl36al A G 12: 69,229,697 (GRCm39) C72R probably damaging Het
Rplp0 T A 5: 115,701,374 (GRCm39) F275L possibly damaging Het
Rpp30 G A 19: 36,064,793 (GRCm39) V89I probably benign Het
Ryr3 A G 2: 112,539,482 (GRCm39) F3253L possibly damaging Het
Serpina3n A T 12: 104,375,203 (GRCm39) N92Y probably benign Het
Setd7 G T 3: 51,450,252 (GRCm39) T58N probably benign Het
Sh3tc2 T A 18: 62,144,954 (GRCm39) L1136Q probably damaging Het
Slc35b4 G A 6: 34,135,440 (GRCm39) Q291* probably null Het
Sort1 A G 3: 108,248,011 (GRCm39) N452S probably benign Het
Sympk A G 7: 18,763,070 (GRCm39) I46V probably benign Het
Syngr2 T C 11: 117,703,364 (GRCm39) V60A probably damaging Het
Syt17 A T 7: 118,007,341 (GRCm39) F318I probably benign Het
Tdpoz8 T A 3: 92,981,729 (GRCm39) L249H probably damaging Het
Tgfb1 T A 7: 25,391,891 (GRCm39) L149M probably damaging Het
Ticam1 A T 17: 56,578,897 (GRCm39) M66K probably benign Het
Tmem131 G T 1: 36,847,008 (GRCm39) D1363E probably benign Het
Tns4 A C 11: 98,970,926 (GRCm39) D261E probably damaging Het
Trim30a T C 7: 104,078,417 (GRCm39) N220D probably benign Het
Trmt10a T C 3: 137,862,481 (GRCm39) L257P probably damaging Het
Troap G T 15: 98,973,233 (GRCm39) probably benign Het
Ttc6 T C 12: 57,751,338 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r236 A G 17: 21,507,673 (GRCm39) K264E possibly damaging Het
Vmn1r84 A G 7: 12,096,555 (GRCm39) V46A probably benign Het
Wdr59 A T 8: 112,185,649 (GRCm39) W835R probably damaging Het
Zfp513 T G 5: 31,357,767 (GRCm39) K202T probably damaging Het
Zfp7 T G 15: 76,775,977 (GRCm39) I673S probably benign Het
Zmynd11 A G 13: 9,748,737 (GRCm39) I108T possibly damaging Het
Other mutations in Vav1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Vav1 APN 17 57,606,176 (GRCm39) missense probably benign 0.21
IGL01613:Vav1 APN 17 57,614,067 (GRCm39) missense possibly damaging 0.93
IGL02032:Vav1 APN 17 57,604,090 (GRCm39) missense possibly damaging 0.91
IGL02213:Vav1 APN 17 57,612,351 (GRCm39) missense possibly damaging 0.84
IGL03009:Vav1 APN 17 57,603,582 (GRCm39) missense probably benign 0.38
Belated UTSW 17 57,608,214 (GRCm39) missense probably benign 0.06
Delayed UTSW 17 57,603,552 (GRCm39) missense probably damaging 1.00
Endlich UTSW 17 57,604,086 (GRCm39) missense probably damaging 1.00
finally UTSW 17 57,618,860 (GRCm39) nonsense probably null
Last UTSW 17 57,603,039 (GRCm39) missense probably damaging 0.99
Late UTSW 17 57,608,870 (GRCm39) missense possibly damaging 0.91
Plain_sight UTSW 17 57,604,122 (GRCm39) missense probably damaging 1.00
tardive UTSW 17 57,610,079 (GRCm39) nonsense probably null
R0116:Vav1 UTSW 17 57,603,039 (GRCm39) missense probably damaging 0.99
R0125:Vav1 UTSW 17 57,606,847 (GRCm39) missense probably damaging 1.00
R0268:Vav1 UTSW 17 57,603,090 (GRCm39) missense probably damaging 1.00
R0344:Vav1 UTSW 17 57,603,090 (GRCm39) missense probably damaging 1.00
R0579:Vav1 UTSW 17 57,586,271 (GRCm39) missense probably benign 0.01
R0634:Vav1 UTSW 17 57,610,862 (GRCm39) missense probably benign 0.00
R1313:Vav1 UTSW 17 57,616,498 (GRCm39) splice site probably benign
R1345:Vav1 UTSW 17 57,608,214 (GRCm39) missense probably benign 0.06
R1402:Vav1 UTSW 17 57,610,849 (GRCm39) missense probably benign 0.18
R1402:Vav1 UTSW 17 57,610,849 (GRCm39) missense probably benign 0.18
R1579:Vav1 UTSW 17 57,604,252 (GRCm39) missense probably benign 0.05
R1971:Vav1 UTSW 17 57,634,697 (GRCm39) missense probably damaging 1.00
R2197:Vav1 UTSW 17 57,610,140 (GRCm39) missense probably benign 0.37
R2903:Vav1 UTSW 17 57,613,187 (GRCm39) missense probably benign 0.05
R4623:Vav1 UTSW 17 57,606,839 (GRCm39) splice site probably null
R4753:Vav1 UTSW 17 57,613,140 (GRCm39) missense probably damaging 0.98
R4779:Vav1 UTSW 17 57,603,552 (GRCm39) missense probably damaging 1.00
R5232:Vav1 UTSW 17 57,610,846 (GRCm39) missense possibly damaging 0.81
R5240:Vav1 UTSW 17 57,604,122 (GRCm39) missense probably damaging 1.00
R5503:Vav1 UTSW 17 57,610,079 (GRCm39) nonsense probably null
R5592:Vav1 UTSW 17 57,611,835 (GRCm39) missense probably benign 0.00
R5782:Vav1 UTSW 17 57,603,001 (GRCm39) missense probably damaging 1.00
R5945:Vav1 UTSW 17 57,608,870 (GRCm39) missense possibly damaging 0.91
R6113:Vav1 UTSW 17 57,608,884 (GRCm39) missense probably benign 0.00
R6514:Vav1 UTSW 17 57,634,660 (GRCm39) missense probably damaging 1.00
R6575:Vav1 UTSW 17 57,612,280 (GRCm39) missense probably damaging 0.97
R6932:Vav1 UTSW 17 57,609,330 (GRCm39) missense possibly damaging 0.92
R7024:Vav1 UTSW 17 57,586,268 (GRCm39) missense probably damaging 1.00
R7063:Vav1 UTSW 17 57,618,860 (GRCm39) nonsense probably null
R7322:Vav1 UTSW 17 57,609,266 (GRCm39) missense probably benign
R7335:Vav1 UTSW 17 57,603,720 (GRCm39) missense probably benign
R7474:Vav1 UTSW 17 57,606,102 (GRCm39) missense probably benign 0.07
R7665:Vav1 UTSW 17 57,604,086 (GRCm39) missense probably damaging 1.00
R8964:Vav1 UTSW 17 57,606,122 (GRCm39) missense probably benign
R8978:Vav1 UTSW 17 57,631,650 (GRCm39) missense probably benign
R8978:Vav1 UTSW 17 57,603,710 (GRCm39) missense probably benign 0.04
R9165:Vav1 UTSW 17 57,618,895 (GRCm39) missense probably damaging 1.00
R9453:Vav1 UTSW 17 57,613,191 (GRCm39) missense probably benign
R9728:Vav1 UTSW 17 57,612,459 (GRCm39) missense probably benign 0.00
Z1176:Vav1 UTSW 17 57,610,853 (GRCm39) missense probably damaging 1.00
Z1177:Vav1 UTSW 17 57,610,040 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- CACTGTCTACAGATGATGGCTG -3'
(R):5'- TTAGACAGTGCTCCCTTTGC -3'

Sequencing Primer
(F):5'- CTACAGATGATGGCTGGATGTTTATC -3'
(R):5'- AACATCTCCATCTCATAGGAGGTTC -3'
Posted On 2014-06-30