Incidental Mutation 'IGL01613:Vav1'
ID92239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vav1
Ensembl Gene ENSMUSG00000034116
Gene Namevav 1 oncogene
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.385) question?
Stock #IGL01613
Quality Score
Status
Chromosome17
Chromosomal Location57279100-57328031 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57307067 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 650 (F650L)
Ref Sequence ENSEMBL: ENSMUSP00000108491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005889] [ENSMUST00000112870] [ENSMUST00000169220]
Predicted Effect possibly damaging
Transcript: ENSMUST00000005889
AA Change: F650L

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005889
Gene: ENSMUSG00000034116
AA Change: F650L

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 possibly damaging
Transcript: ENSMUST00000112870
AA Change: F650L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108491
Gene: ENSMUSG00000034116
AA Change: F650L

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: F626L

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126694
Gene: ENSMUSG00000034116
AA Change: F626L

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
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. 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,512,652 M446R possibly damaging Het
Abca16 A G 7: 120,541,277 N1599S probably benign Het
Ankib1 G A 5: 3,713,146 Q528* probably null Het
Ano10 A T 9: 122,259,540 L347M possibly damaging Het
Bag6 T C 17: 35,143,016 probably benign Het
Bpnt1 T C 1: 185,353,994 V182A possibly damaging Het
Capn13 G T 17: 73,331,058 T450N probably benign Het
Cbr3 A T 16: 93,683,443 E40V probably benign Het
Cdk10 T C 8: 123,228,387 I159T probably damaging Het
Cela3b T C 4: 137,425,071 D65G possibly damaging Het
Csf2rb T G 15: 78,335,302 probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dpp9 T C 17: 56,190,713 H687R probably benign Het
Elovl1 T C 4: 118,431,270 V108A probably benign Het
Emb T A 13: 117,272,078 N318K probably damaging Het
Ermp1 A G 19: 29,639,939 L36P probably damaging Het
Esco2 T G 14: 65,826,595 H380P possibly damaging Het
Gm5724 G T 6: 141,713,214 T552K possibly damaging Het
Gm9747 G A 1: 82,234,088 probably benign Het
Golga1 A G 2: 39,020,126 M603T probably benign Het
Hsph1 A G 5: 149,627,278 V411A probably benign Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Ints11 T C 4: 155,885,198 probably null Het
Jakmip1 G T 5: 37,100,768 A253S probably damaging Het
Met A G 6: 17,540,577 Y834C probably damaging Het
Mgl2 A G 11: 70,134,158 T2A probably benign Het
Myh2 G T 11: 67,197,344 V1929L probably benign Het
Myh8 T C 11: 67,301,710 S1472P probably benign Het
Myo1e T C 9: 70,341,273 probably benign Het
Ndufaf7 A G 17: 78,937,502 I17V probably benign Het
Olfr1046 T G 2: 86,217,161 D183A probably damaging Het
Olfr1256 T C 2: 89,835,808 T46A probably damaging Het
Olfr193 A T 16: 59,109,921 S230T probably damaging Het
Olfr804 A G 10: 129,705,623 I248M probably benign Het
Olfr830 T A 9: 18,875,321 probably benign Het
Olfr914 A G 9: 38,606,554 I30V probably null Het
Olfr992 C T 2: 85,400,171 D121N probably damaging Het
Ppef2 T C 5: 92,235,820 E477G probably benign Het
Scmh1 T A 4: 120,529,900 probably benign Het
Scn1a C A 2: 66,285,937 D1473Y probably damaging Het
Sdr42e1 C T 8: 117,662,937 V322I probably benign Het
Spta1 G A 1: 174,208,394 A1089T probably damaging Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 F108L possibly damaging Het
Ttn T C 2: 76,974,964 N177S probably benign Het
Tyk2 T C 9: 21,120,576 D401G probably damaging Het
Wdr12 T C 1: 60,080,559 H385R probably damaging Het
Xab2 T C 8: 3,610,880 M745V probably benign Het
Other mutations in Vav1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Vav1 APN 17 57299176 missense probably benign 0.21
IGL02032:Vav1 APN 17 57297090 missense possibly damaging 0.91
IGL02213:Vav1 APN 17 57305351 missense possibly damaging 0.84
IGL03009:Vav1 APN 17 57296582 missense probably benign 0.38
Belated UTSW 17 57301214 missense probably benign 0.06
Delayed UTSW 17 57296552 missense probably damaging 1.00
finally UTSW 17 57311860 nonsense probably null
Last UTSW 17 57296039 missense probably damaging 0.99
Late UTSW 17 57301870 missense possibly damaging 0.91
Plain_sight UTSW 17 57297122 missense probably damaging 1.00
tardive UTSW 17 57303079 nonsense probably null
R0116:Vav1 UTSW 17 57296039 missense probably damaging 0.99
R0125:Vav1 UTSW 17 57299847 missense probably damaging 1.00
R0268:Vav1 UTSW 17 57296090 missense probably damaging 1.00
R0344:Vav1 UTSW 17 57296090 missense probably damaging 1.00
R0579:Vav1 UTSW 17 57279271 missense probably benign 0.01
R0634:Vav1 UTSW 17 57303862 missense probably benign 0.00
R1313:Vav1 UTSW 17 57309498 splice site probably benign
R1345:Vav1 UTSW 17 57301214 missense probably benign 0.06
R1402:Vav1 UTSW 17 57303849 missense probably benign 0.18
R1402:Vav1 UTSW 17 57303849 missense probably benign 0.18
R1579:Vav1 UTSW 17 57297252 missense probably benign 0.05
R1872:Vav1 UTSW 17 57324750 missense probably damaging 1.00
R1971:Vav1 UTSW 17 57327697 missense probably damaging 1.00
R2197:Vav1 UTSW 17 57303140 missense probably benign 0.37
R2903:Vav1 UTSW 17 57306187 missense probably benign 0.05
R4623:Vav1 UTSW 17 57299839 splice site probably null
R4753:Vav1 UTSW 17 57306140 missense probably damaging 0.98
R4779:Vav1 UTSW 17 57296552 missense probably damaging 1.00
R5232:Vav1 UTSW 17 57303846 missense possibly damaging 0.81
R5240:Vav1 UTSW 17 57297122 missense probably damaging 1.00
R5503:Vav1 UTSW 17 57303079 nonsense probably null
R5592:Vav1 UTSW 17 57304835 missense probably benign 0.00
R5782:Vav1 UTSW 17 57296001 missense probably damaging 1.00
R5945:Vav1 UTSW 17 57301870 missense possibly damaging 0.91
R6113:Vav1 UTSW 17 57301884 missense probably benign 0.00
R6514:Vav1 UTSW 17 57327660 missense probably damaging 1.00
R6575:Vav1 UTSW 17 57305280 missense probably damaging 0.97
R6932:Vav1 UTSW 17 57302330 missense possibly damaging 0.92
R7024:Vav1 UTSW 17 57279268 missense probably damaging 1.00
R7063:Vav1 UTSW 17 57311860 nonsense probably null
R7322:Vav1 UTSW 17 57302266 missense probably benign
R7335:Vav1 UTSW 17 57296720 missense probably benign
R7474:Vav1 UTSW 17 57299102 missense probably benign 0.07
R7665:Vav1 UTSW 17 57297086 missense probably damaging 1.00
Z1176:Vav1 UTSW 17 57303853 missense probably damaging 1.00
Z1177:Vav1 UTSW 17 57303040 missense probably benign 0.18
Posted On2013-12-09