Incidental Mutation 'R6647:Vav3'
| ID |
526112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vav3
|
| Ensembl Gene |
ENSMUSG00000033721 |
| Gene Name |
vav 3 oncogene |
| Synonyms |
A530094I06Rik, Idd18.1 |
| MMRRC Submission |
044768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R6647 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
109247969-109593014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109434732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 421
(H421L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046864]
|
| AlphaFold |
Q9R0C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046864
AA Change: H421L
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036270
Gene: ENSMUSG00000033721
AA Change: H421L
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
3 |
115 |
2.1e-18 |
SMART |
|
low complexity region
|
160 |
175 |
N/A |
INTRINSIC |
|
RhoGEF
|
196 |
370 |
5.09e-56 |
SMART |
|
PH
|
401 |
504 |
1.88e-9 |
SMART |
|
C1
|
514 |
562 |
2.17e-11 |
SMART |
|
SH3
|
595 |
659 |
6.4e-6 |
SMART |
|
SH2
|
670 |
752 |
2.59e-26 |
SMART |
|
SH3
|
791 |
847 |
8.96e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126179
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (53/54) |
| 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. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in tachycardia, systemic arterial hypertension, cardiovascular remodeling, hyperactivity of sympathetic neurons and thus high catecholamine levels, and increased levels of kidney-related hormones. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,544,060 (GRCm39) |
T1416A |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,518,494 (GRCm39) |
S103P |
probably damaging |
Het |
| Ces1h |
A |
C |
8: 94,078,654 (GRCm39) |
*563G |
probably null |
Het |
| Cfap157 |
G |
T |
2: 32,669,086 (GRCm39) |
A339E |
probably benign |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,785,324 (GRCm39) |
H231R |
possibly damaging |
Het |
| Ddx31 |
A |
T |
2: 28,765,750 (GRCm39) |
T483S |
probably damaging |
Het |
| Defa25 |
A |
T |
8: 21,575,201 (GRCm39) |
D60V |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,403,633 (GRCm39) |
A3453T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,115,743 (GRCm39) |
F1500I |
probably damaging |
Het |
| Eprs1 |
C |
T |
1: 185,146,621 (GRCm39) |
A1217V |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,604,335 (GRCm39) |
Y481C |
probably benign |
Het |
| Fmn2 |
T |
A |
1: 174,420,670 (GRCm39) |
N635K |
unknown |
Het |
| Fras1 |
A |
G |
5: 96,883,061 (GRCm39) |
D2531G |
probably damaging |
Het |
| Frat1 |
C |
T |
19: 41,819,264 (GRCm39) |
Q220* |
probably null |
Het |
| Gcc2 |
T |
A |
10: 58,123,103 (GRCm39) |
|
probably null |
Het |
| Gm3285 |
T |
C |
10: 77,698,447 (GRCm39) |
|
probably benign |
Het |
| Gm9857 |
T |
C |
3: 108,847,379 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
C |
A |
6: 135,710,108 (GRCm39) |
W1146L |
probably damaging |
Het |
| Hells |
T |
A |
19: 38,919,948 (GRCm39) |
L33I |
probably benign |
Het |
| Ift81 |
T |
A |
5: 122,748,229 (GRCm39) |
R54* |
probably null |
Het |
| Ints12 |
G |
A |
3: 132,802,639 (GRCm39) |
R41Q |
possibly damaging |
Het |
| Katnal2 |
C |
T |
18: 77,067,733 (GRCm39) |
E403K |
probably benign |
Het |
| Kcnk1 |
A |
G |
8: 126,722,199 (GRCm39) |
M1V |
probably null |
Het |
| Kdm5a |
A |
G |
6: 120,389,422 (GRCm39) |
T950A |
probably benign |
Het |
| Kdr |
G |
A |
5: 76,113,549 (GRCm39) |
A773V |
probably damaging |
Het |
| Lats1 |
G |
C |
10: 7,573,271 (GRCm39) |
M118I |
possibly damaging |
Het |
| Mug1 |
A |
G |
6: 121,817,200 (GRCm39) |
I90V |
probably benign |
Het |
| Nid2 |
A |
G |
14: 19,852,484 (GRCm39) |
D1064G |
probably benign |
Het |
| Nkx2-4 |
A |
T |
2: 146,926,187 (GRCm39) |
I225N |
possibly damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,020,740 (GRCm39) |
D409G |
probably benign |
Het |
| Ogfod2 |
G |
C |
5: 124,252,866 (GRCm39) |
R292P |
possibly damaging |
Het |
| Oprk1 |
C |
T |
1: 5,672,507 (GRCm39) |
P215S |
probably damaging |
Het |
| Or5d36 |
A |
T |
2: 87,901,053 (GRCm39) |
F224L |
probably benign |
Het |
| Or6c35 |
T |
A |
10: 129,169,033 (GRCm39) |
C94* |
probably null |
Het |
| Or7g27 |
T |
A |
9: 19,249,925 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or8g21 |
T |
C |
9: 38,906,210 (GRCm39) |
I174V |
possibly damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,225 (GRCm39) |
K395R |
possibly damaging |
Het |
| Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
| Pycard |
T |
C |
7: 127,592,741 (GRCm39) |
T29A |
probably benign |
Het |
| Rap1gap2 |
G |
A |
11: 74,298,754 (GRCm39) |
A452V |
probably benign |
Het |
| Rasgrf1 |
C |
G |
9: 89,892,516 (GRCm39) |
T1072S |
probably benign |
Het |
| Rc3h2 |
G |
A |
2: 37,272,956 (GRCm39) |
R707* |
probably null |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Senp7 |
T |
C |
16: 55,993,618 (GRCm39) |
I767T |
probably damaging |
Het |
| Setd7 |
A |
G |
3: 51,450,183 (GRCm39) |
V81A |
probably benign |
Het |
| Shisal2a |
A |
G |
4: 108,225,224 (GRCm39) |
S113P |
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,041,800 (GRCm39) |
S685P |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,068,372 (GRCm39) |
E904G |
probably damaging |
Het |
| Spata22 |
T |
A |
11: 73,245,526 (GRCm39) |
|
probably null |
Het |
| Spata31e2 |
T |
A |
1: 26,721,659 (GRCm39) |
N1174Y |
probably damaging |
Het |
| Tas2r138 |
G |
T |
6: 40,589,733 (GRCm39) |
T171K |
possibly damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,893,999 (GRCm39) |
D77G |
possibly damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,841 (GRCm39) |
L215P |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,785 (GRCm39) |
S386R |
probably benign |
Het |
| Xpa |
T |
A |
4: 46,183,089 (GRCm39) |
R233S |
probably benign |
Het |
|
| Other mutations in Vav3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Vav3
|
APN |
3 |
109,435,708 (GRCm39) |
splice site |
probably benign |
|
|
IGL01488:Vav3
|
APN |
3 |
109,565,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01649:Vav3
|
APN |
3 |
109,470,078 (GRCm39) |
missense |
probably benign |
|
|
IGL01675:Vav3
|
APN |
3 |
109,571,729 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02189:Vav3
|
APN |
3 |
109,433,276 (GRCm39) |
splice site |
probably benign |
|
|
IGL03134:Vav3
|
APN |
3 |
109,470,410 (GRCm39) |
splice site |
probably benign |
|
|
IGL03358:Vav3
|
APN |
3 |
109,554,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Vav3
|
UTSW |
3 |
109,571,751 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0511:Vav3
|
UTSW |
3 |
109,571,756 (GRCm39) |
splice site |
probably benign |
|
|
R0542:Vav3
|
UTSW |
3 |
109,434,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Vav3
|
UTSW |
3 |
109,331,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Vav3
|
UTSW |
3 |
109,559,129 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0833:Vav3
|
UTSW |
3 |
109,554,995 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0836:Vav3
|
UTSW |
3 |
109,554,995 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0940:Vav3
|
UTSW |
3 |
109,470,151 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1561:Vav3
|
UTSW |
3 |
109,402,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1617:Vav3
|
UTSW |
3 |
109,418,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Vav3
|
UTSW |
3 |
109,248,443 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1834:Vav3
|
UTSW |
3 |
109,413,742 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1928:Vav3
|
UTSW |
3 |
109,413,738 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2090:Vav3
|
UTSW |
3 |
109,555,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2190:Vav3
|
UTSW |
3 |
109,470,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Vav3
|
UTSW |
3 |
109,248,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3124:Vav3
|
UTSW |
3 |
109,535,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3125:Vav3
|
UTSW |
3 |
109,535,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3800:Vav3
|
UTSW |
3 |
109,535,355 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3919:Vav3
|
UTSW |
3 |
109,434,854 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4693:Vav3
|
UTSW |
3 |
109,470,534 (GRCm39) |
splice site |
probably benign |
|
|
R4779:Vav3
|
UTSW |
3 |
109,416,110 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5384:Vav3
|
UTSW |
3 |
109,434,791 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5385:Vav3
|
UTSW |
3 |
109,434,791 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5474:Vav3
|
UTSW |
3 |
109,571,737 (GRCm39) |
missense |
probably benign |
|
|
R5703:Vav3
|
UTSW |
3 |
109,248,557 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5997:Vav3
|
UTSW |
3 |
109,408,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6109:Vav3
|
UTSW |
3 |
109,571,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Vav3
|
UTSW |
3 |
109,571,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6120:Vav3
|
UTSW |
3 |
109,571,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6123:Vav3
|
UTSW |
3 |
109,571,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6124:Vav3
|
UTSW |
3 |
109,571,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Vav3
|
UTSW |
3 |
109,423,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Vav3
|
UTSW |
3 |
109,416,170 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6335:Vav3
|
UTSW |
3 |
109,470,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6849:Vav3
|
UTSW |
3 |
109,428,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Vav3
|
UTSW |
3 |
109,434,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7075:Vav3
|
UTSW |
3 |
109,433,240 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7131:Vav3
|
UTSW |
3 |
109,571,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7328:Vav3
|
UTSW |
3 |
109,410,744 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7365:Vav3
|
UTSW |
3 |
109,535,415 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7991:Vav3
|
UTSW |
3 |
109,470,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8151:Vav3
|
UTSW |
3 |
109,416,164 (GRCm39) |
missense |
probably benign |
|
|
R8164:Vav3
|
UTSW |
3 |
109,248,368 (GRCm39) |
missense |
probably benign |
|
|
R8170:Vav3
|
UTSW |
3 |
109,331,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8527:Vav3
|
UTSW |
3 |
109,410,787 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8542:Vav3
|
UTSW |
3 |
109,410,787 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8734:Vav3
|
UTSW |
3 |
109,565,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8828:Vav3
|
UTSW |
3 |
109,555,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8963:Vav3
|
UTSW |
3 |
109,590,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Vav3
|
UTSW |
3 |
109,413,722 (GRCm39) |
missense |
probably benign |
|
|
R9085:Vav3
|
UTSW |
3 |
109,413,722 (GRCm39) |
missense |
probably benign |
|
|
R9387:Vav3
|
UTSW |
3 |
109,565,291 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9393:Vav3
|
UTSW |
3 |
109,485,682 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9429:Vav3
|
UTSW |
3 |
109,564,561 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAAGTTCAAATGAGGGGAGCTGG -3'
(R):5'- GCTCTGCATAAATTACTGTCCATTGC -3'
Sequencing Primer
(F):5'- GAATGGCAGCATCTCTCCTTGAG -3'
(R):5'- ATTGCCACCTCCCCAGTAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation