Incidental Mutation 'R7024:Vav1'
ID 545871
Institutional Source Beutler Lab
Gene Symbol Vav1
Ensembl Gene ENSMUSG00000034116
Gene Name vav 1 oncogene
Synonyms
MMRRC Submission 045125-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # R7024 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 57586100-57635031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57586268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 24 (T24N)
Ref Sequence ENSEMBL: ENSMUSP00000005889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005889] [ENSMUST00000112870] [ENSMUST00000169220]
AlphaFold P27870
PDB Structure NMR STRUCTURE OF THE Y174 AUTOINHIBITED DBL HOMOLOGY DOMAIN [SOLUTION NMR]
CRYSTAL STRUCTURE OF VAV SH3 DOMAIN [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF VAV AND GRB2 SH3 DOMAINS [X-RAY DIFFRACTION]
Solution structure of N-terminal SH3 domain mutant(P33G) of murine Vav [SOLUTION NMR]
Attachment of an NMR-invisible solubility enhancement tag (INSET) using a sortase-mediated protein ligation method [SOLUTION NMR]
CRITICAL STRUCTURAL ROLE FOR THE PH AND C1 DOMAINS OF THE VAV1 EXCHANGE FACTOR [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000005889
AA Change: T24N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005889
Gene: ENSMUSG00000034116
AA Change: T24N

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 probably damaging
Transcript: ENSMUST00000112870
AA Change: T24N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108491
Gene: ENSMUSG00000034116
AA Change: T24N

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: T24N

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126694
Gene: ENSMUSG00000034116
AA Change: T24N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (61/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A G 16: 88,424,108 (GRCm39) S128P probably damaging Het
Abcc1 G C 16: 14,231,247 (GRCm39) probably null Het
Atg2a G A 19: 6,300,249 (GRCm39) G686S possibly damaging Het
Atrnl1 A T 19: 57,626,882 (GRCm39) probably null Het
Brd4 T C 17: 32,440,884 (GRCm39) probably benign Het
Camsap3 A G 8: 3,658,242 (GRCm39) E688G probably damaging Het
Cc2d2a T A 5: 43,891,271 (GRCm39) S1402R probably benign Het
Ccnb1 A G 13: 100,922,888 (GRCm39) probably null Het
Cdc42bpb G A 12: 111,292,519 (GRCm39) H339Y probably damaging Het
Ciart T A 3: 95,786,392 (GRCm39) T94S probably benign Het
Col6a5 T A 9: 105,789,674 (GRCm39) K1540* probably null Het
Csmd3 A T 15: 47,574,387 (GRCm39) V1969E probably damaging Het
Dgka T G 10: 128,556,356 (GRCm39) N710T probably damaging Het
Dock6 A G 9: 21,731,666 (GRCm39) V1212A probably benign Het
Dync2i2 A G 2: 29,928,278 (GRCm39) V116A possibly damaging Het
En1 C T 1: 120,531,051 (GRCm39) P97L unknown Het
Esd T A 14: 74,982,102 (GRCm39) F172L probably damaging Het
Gfer C A 17: 24,914,942 (GRCm39) D34Y probably damaging Het
Gm2832 G A 14: 41,001,696 (GRCm39) M68I Het
Hmgcr A G 13: 96,795,418 (GRCm39) S384P probably benign Het
Hsp90aa1 T C 12: 110,660,546 (GRCm39) T299A possibly damaging Het
Igsf10 A G 3: 59,239,122 (GRCm39) M353T probably benign Het
Ino80b T C 6: 83,099,306 (GRCm39) T211A probably benign Het
Lamb2 C A 9: 108,366,687 (GRCm39) T1607K probably benign Het
Lhfpl5 A G 17: 28,801,957 (GRCm39) E218G probably benign Het
Lpo C A 11: 87,707,269 (GRCm39) C248F probably damaging Het
Lrrc3 C T 10: 77,736,825 (GRCm39) D204N probably damaging Het
Mavs C A 2: 131,085,051 (GRCm39) L160I probably benign Het
Morn4 C T 19: 42,066,483 (GRCm39) D35N possibly damaging Het
Mroh8 G A 2: 157,063,183 (GRCm39) H813Y probably benign Het
Myf6 T C 10: 107,330,390 (GRCm39) E59G probably damaging Het
Nhsl3 T A 4: 129,119,201 (GRCm39) E173V probably null Het
Nlrp10 T A 7: 108,524,405 (GRCm39) E358D possibly damaging Het
Odad2 A C 18: 7,211,593 (GRCm39) D760E probably benign Het
Optn T C 2: 5,057,648 (GRCm39) probably null Het
Or12e8 A G 2: 87,188,066 (GRCm39) T93A probably benign Het
Or13a19 T C 7: 139,902,759 (GRCm39) I49T possibly damaging Het
Or1e1d-ps1 T A 11: 73,819,332 (GRCm39) L94* probably null Het
Or1o1 T C 17: 37,717,095 (GRCm39) F219L probably benign Het
Or5g9 T A 2: 85,551,952 (GRCm39) F68I probably damaging Het
Or7g28 T C 9: 19,272,579 (GRCm39) E24G possibly damaging Het
Plxna4 T A 6: 32,169,204 (GRCm39) H1331L probably damaging Het
Poli A T 18: 70,649,920 (GRCm39) M357K possibly damaging Het
Psd4 T G 2: 24,284,555 (GRCm39) C140G possibly damaging Het
Rab3gap1 T A 1: 127,818,835 (GRCm39) probably null Het
Rasa3 T C 8: 13,681,826 (GRCm39) N41S probably benign Het
Rps6kc1 A G 1: 190,532,407 (GRCm39) S532P probably benign Het
S100a3 T A 3: 90,509,747 (GRCm39) probably null Het
Sfrp5 T C 19: 42,190,204 (GRCm39) K83E possibly damaging Het
Slco1a4 T C 6: 141,780,434 (GRCm39) I119V probably benign Het
Snx15 T A 19: 6,170,626 (GRCm39) Q271L probably damaging Het
Sorcs2 C A 5: 36,178,605 (GRCm39) S1128I probably damaging Het
Tbc1d7 A T 13: 43,308,211 (GRCm39) F85I probably damaging Het
Thoc7 A G 14: 13,953,528 (GRCm38) Y46H probably damaging Het
Top1mt T A 15: 75,539,297 (GRCm39) Y366F probably damaging Het
Trpv2 C A 11: 62,475,287 (GRCm39) S233R probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdfy4 G T 14: 32,686,583 (GRCm39) probably null Het
Wdr3 A G 3: 100,062,313 (GRCm39) S201P probably benign Het
Wfs1 C T 5: 37,124,294 (GRCm39) D866N probably damaging Het
Wnk1 A T 6: 119,942,687 (GRCm39) probably benign Het
Xpot G T 10: 121,438,304 (GRCm39) Q762K probably benign Het
Zfp287 A T 11: 62,605,764 (GRCm39) L370H 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
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
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'- GGTGTTGTAGTTGTCCCCAC -3'
(R):5'- CTGCAAGCCAACCAAGAGTG -3'

Sequencing Primer
(F):5'- ATGGAGCTCTGGCGACAG -3'
(R):5'- CTACCAGCCTTTATCCAGTCGGG -3'
Posted On 2019-05-13