Incidental Mutation 'R6575:Vav1'
| ID |
523419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vav1
|
| Ensembl Gene |
ENSMUSG00000034116 |
| Gene Name |
vav 1 oncogene |
| Synonyms |
|
| MMRRC Submission |
044699-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.257)
|
| Stock # |
R6575 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
57586100-57635031 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 57612280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 513
(R513S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005889]
[ENSMUST00000112870]
[ENSMUST00000169220]
|
| AlphaFold |
P27870 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005889
AA Change: R537S
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005889
Gene: ENSMUSG00000034116
AA Change: R537S
| Domain | Start | End | E-Value | Type |
|---|
|
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: R537S
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108491
Gene: ENSMUSG00000034116
AA Change: R537S
| Domain | Start | End | E-Value | Type |
|---|
|
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: R513S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126694
Gene: ENSMUSG00000034116
AA Change: R513S
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,330,683 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Acnat1 |
A |
G |
4: 49,450,785 (GRCm39) |
Y109H |
possibly damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,401,522 (GRCm39) |
K835N |
possibly damaging |
Het |
| Afg1l |
T |
C |
10: 42,194,712 (GRCm39) |
D360G |
probably damaging |
Het |
| Ap3s1 |
C |
T |
18: 46,887,448 (GRCm39) |
T27M |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,256,284 (GRCm39) |
L225P |
probably damaging |
Het |
| Bicra |
G |
A |
7: 15,713,056 (GRCm39) |
T997I |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,995,411 (GRCm39) |
R112G |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,561,535 (GRCm39) |
T989A |
possibly damaging |
Het |
| Cog1 |
C |
A |
11: 113,546,887 (GRCm39) |
Q494K |
probably benign |
Het |
| Cyb5rl |
T |
C |
4: 106,942,550 (GRCm39) |
Y160H |
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,057 (GRCm39) |
N198D |
probably damaging |
Het |
| Eif1ad11 |
T |
C |
12: 87,994,117 (GRCm39) |
I115T |
probably damaging |
Het |
| Eif3l |
C |
A |
15: 78,970,778 (GRCm39) |
Q351K |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,916,301 (GRCm39) |
|
probably benign |
Het |
| Fam3c |
G |
T |
6: 22,329,607 (GRCm39) |
A40D |
probably damaging |
Het |
| Fcrla |
A |
G |
1: 170,749,797 (GRCm39) |
S87P |
probably damaging |
Het |
| Glra1 |
A |
G |
11: 55,411,822 (GRCm39) |
Y246H |
probably damaging |
Het |
| Gm45871 |
T |
A |
18: 90,609,844 (GRCm39) |
C361S |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,547,347 (GRCm39) |
N1522D |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,731,435 (GRCm39) |
M214T |
unknown |
Het |
| Heatr5b |
A |
T |
17: 79,070,418 (GRCm39) |
V1665E |
probably damaging |
Het |
| Hemgn |
C |
A |
4: 46,395,990 (GRCm39) |
M415I |
possibly damaging |
Het |
| Hibadh |
G |
A |
6: 52,524,013 (GRCm39) |
T295I |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,878,745 (GRCm39) |
L947P |
probably damaging |
Het |
| Icam2 |
G |
A |
11: 106,269,585 (GRCm39) |
T178I |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,663,763 (GRCm39) |
S86P |
probably damaging |
Het |
| Lipe |
G |
A |
7: 25,082,749 (GRCm39) |
T801I |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,518,934 (GRCm39) |
T44A |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 15,847,439 (GRCm39) |
H1193R |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
G |
11: 68,699,676 (GRCm39) |
I1671V |
probably benign |
Het |
| Or2c1 |
A |
G |
16: 3,656,894 (GRCm39) |
D19G |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,930,129 (GRCm39) |
D334G |
possibly damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,098,117 (GRCm39) |
D801G |
probably damaging |
Het |
| Pfdn4 |
C |
A |
2: 170,358,556 (GRCm39) |
D16E |
probably benign |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Rrp9 |
C |
T |
9: 106,360,778 (GRCm39) |
T253I |
probably damaging |
Het |
| Speer1m |
A |
T |
5: 11,970,612 (GRCm39) |
K62* |
probably null |
Het |
| Tnrc6a |
A |
G |
7: 122,769,133 (GRCm39) |
T308A |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,250 (GRCm39) |
C34S |
probably benign |
Het |
| Trhr |
A |
G |
15: 44,092,602 (GRCm39) |
M280V |
possibly damaging |
Het |
| Trp53bp1 |
G |
A |
2: 121,059,084 (GRCm39) |
H926Y |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,652,903 (GRCm39) |
I90K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,671 (GRCm39) |
T128S |
probably benign |
Het |
| Zfp687 |
T |
C |
3: 94,915,700 (GRCm39) |
Y1024C |
probably damaging |
Het |
| Zfp938 |
C |
A |
10: 82,061,160 (GRCm39) |
G487* |
probably null |
Het |
| Znrf2 |
A |
G |
6: 54,855,430 (GRCm39) |
Y73C |
probably damaging |
Het |
|
| Other mutations in Vav1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GGCCCTACTGTGACTCATTACC -3'
(R):5'- TCCTGCGAAATCTATGGAAGGG -3'
Sequencing Primer
(F):5'- TAGATAGTGTCTCCCTCAGAAGC -3'
(R):5'- GAAAAGTTCATTCAGAAGGGAACTCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation