Incidental Mutation 'R0125:Vav1'
ID 21333
Institutional Source Beutler Lab
Gene Symbol Vav1
Ensembl Gene ENSMUSG00000034116
Gene Name vav 1 oncogene
Synonyms
MMRRC Submission 038410-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # R0125 (G1)
Quality Score 182
Status Validated (trace)
Chromosome 17
Chromosomal Location 57586100-57635031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57606847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 254 (L254Q)
Ref Sequence ENSEMBL: ENSMUSP00000126694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005889] [ENSMUST00000112870] [ENSMUST00000169220]
AlphaFold P27870
Predicted Effect probably damaging
Transcript: ENSMUST00000005889
AA Change: L278Q

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005889
Gene: ENSMUSG00000034116
AA Change: L278Q

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 possibly damaging
Transcript: ENSMUST00000112870
AA Change: L278Q

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108491
Gene: ENSMUSG00000034116
AA Change: L278Q

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 probably damaging
Transcript: ENSMUST00000169220
AA Change: L254Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126694
Gene: ENSMUSG00000034116
AA Change: L254Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174878
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 98% (96/98)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T C 14: 70,394,096 (GRCm39) probably benign Het
Adam23 T C 1: 63,573,515 (GRCm39) L261P probably benign Het
Adgra3 G A 5: 50,159,194 (GRCm39) probably benign Het
Agtr1b A G 3: 20,369,704 (GRCm39) F301L probably benign Het
Ahnak2 G A 12: 112,748,776 (GRCm39) T357I probably benign Het
Aldh1a7 T C 19: 20,704,430 (GRCm39) probably benign Het
Apoh A T 11: 108,302,899 (GRCm39) N288I probably damaging Het
Arfgap3 A G 15: 83,227,340 (GRCm39) V24A probably benign Het
Atp6v0a1 A G 11: 100,929,677 (GRCm39) probably null Het
Axl A T 7: 25,486,368 (GRCm39) M112K probably benign Het
Bnc2 A C 4: 84,211,169 (GRCm39) I425S probably damaging Het
Ccn4 T C 15: 66,789,194 (GRCm39) S227P possibly damaging Het
Cdc42bpa C T 1: 179,788,763 (GRCm39) T30M probably damaging Het
Cebpz C A 17: 79,227,317 (GRCm39) R1051M possibly damaging Het
Ces1d A C 8: 93,901,810 (GRCm39) probably benign Het
Chd1l T C 3: 97,494,465 (GRCm39) N405S probably benign Het
Chodl G T 16: 78,738,311 (GRCm39) G93V probably damaging Het
Cpeb2 C T 5: 43,395,743 (GRCm39) probably benign Het
Crebbp A G 16: 3,935,105 (GRCm39) probably benign Het
Crybb3 T C 5: 113,227,675 (GRCm39) T49A possibly damaging Het
Ctps1 A G 4: 120,418,722 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,551,497 (GRCm39) Y240H probably damaging Het
Cyp2d11 A C 15: 82,273,422 (GRCm39) V483G probably benign Het
Dennd2b T C 7: 109,155,545 (GRCm39) K402E probably benign Het
Dnah14 A T 1: 181,579,628 (GRCm39) N3054Y probably damaging Het
Dspp A C 5: 104,325,905 (GRCm39) D756A unknown Het
Dst T C 1: 34,309,984 (GRCm39) S1553P probably damaging Het
Elp4 A G 2: 105,622,559 (GRCm39) probably null Het
Eml6 G T 11: 29,832,088 (GRCm39) T194K probably benign Het
Evi5 A G 5: 107,943,638 (GRCm39) I569T probably benign Het
Fancm C T 12: 65,168,730 (GRCm39) P1698S possibly damaging Het
Fhdc1 T C 3: 84,352,852 (GRCm39) D791G probably benign Het
Frem1 A G 4: 82,930,188 (GRCm39) Y253H probably damaging Het
Gpn3 A G 5: 122,519,481 (GRCm39) Y196C probably benign Het
Hcls1 A G 16: 36,782,525 (GRCm39) D398G probably benign Het
Hydin T C 8: 111,189,163 (GRCm39) V1189A probably benign Het
Itgb3 G A 11: 104,534,789 (GRCm39) D549N probably damaging Het
Itpr2 A G 6: 146,141,951 (GRCm39) F1697S probably benign Het
Klk1b11 A G 7: 43,648,475 (GRCm39) T161A probably benign Het
Kntc1 G A 5: 123,903,120 (GRCm39) probably benign Het
Map3k19 A T 1: 127,750,837 (GRCm39) F838Y probably benign Het
Map6 T A 7: 98,985,187 (GRCm39) probably null Het
Mcrs1 A G 15: 99,142,608 (GRCm39) probably benign Het
Mdn1 A T 4: 32,729,956 (GRCm39) Y2766F probably damaging Het
Med23 C T 10: 24,776,686 (GRCm39) H739Y probably damaging Het
Mmp17 T A 5: 129,671,646 (GRCm39) D65E possibly damaging Het
Mmp9 T A 2: 164,793,177 (GRCm39) L442Q probably damaging Het
Myo19 T C 11: 84,779,001 (GRCm39) probably benign Het
Nedd1 A C 10: 92,527,791 (GRCm39) S468A possibly damaging Het
Niban2 T A 2: 32,813,833 (GRCm39) V682D probably benign Het
Nlrp4d A C 7: 10,116,316 (GRCm39) V152G probably damaging Het
Nxf1 T A 19: 8,740,170 (GRCm39) D112E probably benign Het
Oas1h A T 5: 121,000,626 (GRCm39) K79* probably null Het
Omg T A 11: 79,393,679 (GRCm39) I60F possibly damaging Het
Or5p69 A G 7: 107,967,576 (GRCm39) Y293C probably damaging Het
Or8b101 A G 9: 38,020,815 (GRCm39) T278A probably benign Het
Or8b1b T A 9: 38,375,757 (GRCm39) L140* probably null Het
Pck1 G A 2: 172,997,874 (GRCm39) W314* probably null Het
Pla2g15 T C 8: 106,889,756 (GRCm39) Y343H probably benign Het
Plcb3 T C 19: 6,936,276 (GRCm39) E749G probably damaging Het
Plgrkt A G 19: 29,328,442 (GRCm39) probably null Het
Pprc1 A G 19: 46,057,951 (GRCm39) probably benign Het
Prkdc A T 16: 15,516,871 (GRCm39) I1082F probably damaging Het
Rapgef6 T A 11: 54,516,701 (GRCm39) Y172* probably null Het
Ros1 G T 10: 52,001,885 (GRCm39) A1079D probably benign Het
Sap30 T C 8: 57,938,545 (GRCm39) E147G probably null Het
Sell T C 1: 163,899,674 (GRCm39) probably benign Het
Senp1 A T 15: 97,946,112 (GRCm39) D544E probably damaging Het
Shpk G A 11: 73,105,048 (GRCm39) probably benign Het
Slc35b1 A T 11: 95,277,353 (GRCm39) T74S probably benign Het
Slc6a3 T A 13: 73,718,098 (GRCm39) probably benign Het
Slf1 T C 13: 77,191,864 (GRCm39) N990S probably benign Het
Smgc A G 15: 91,738,746 (GRCm39) probably benign Het
Snx19 T A 9: 30,351,515 (GRCm39) V861D probably damaging Het
Sprr2e C T 3: 92,260,285 (GRCm39) P39S unknown Het
Sstr2 T A 11: 113,515,303 (GRCm39) M74K probably damaging Het
Svep1 T C 4: 58,099,937 (GRCm39) probably benign Het
Tas2r143 A G 6: 42,377,889 (GRCm39) I240V probably benign Het
Tbrg1 T C 9: 37,563,937 (GRCm39) I233V probably benign Het
Tecpr1 G T 5: 144,134,717 (GRCm39) D1055E probably damaging Het
Thap2 A T 10: 115,212,277 (GRCm39) probably null Het
Tinagl1 A G 4: 130,060,101 (GRCm39) Y388H probably damaging Het
Ttn T A 2: 76,585,896 (GRCm39) Y21945F probably damaging Het
Ugt2b1 A T 5: 87,073,961 (GRCm39) W133R probably benign Het
Usp24 C T 4: 106,254,496 (GRCm39) P1491L possibly damaging Het
Utp15 A G 13: 98,387,390 (GRCm39) S395P possibly damaging Het
Vmn2r104 T C 17: 20,250,069 (GRCm39) Y734C probably damaging Het
Vps8 T A 16: 21,288,904 (GRCm39) V421E probably benign Het
Xkr7 G T 2: 152,874,346 (GRCm39) A138S probably benign 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
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
R1872:Vav1 UTSW 17 57,631,750 (GRCm39) missense probably damaging 1.00
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'- GGTCACAGGCTGTATTCTGCACTC -3'
(R):5'- TGTACACATACATGCTTGCACATACCC -3'

Sequencing Primer
(F):5'- GCTGTATTCTGCACTCTACCATTAAC -3'
(R):5'- gcttgcaCATACCCCACAC -3'
Posted On 2013-04-11