Mutagenetix > Incidental Mutation

Incidental Mutation 'R1402:Vav1'

188583

Institutional Source

Beutler Lab

Gene Symbol

Vav1

Ensembl Gene

ENSMUSG00000034116

Gene Name

vav 1 oncogene

Synonyms

MMRRC Submission

039464-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R1402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57586100-57635031 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57610849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 472 (L472I)

Ref Sequence

ENSEMBL: ENSMUSP00000108491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005889] [ENSMUST00000112870] [ENSMUST00000169220]

AlphaFold

P27870

Predicted Effect

probably benign
Transcript: ENSMUST00000005889
AA Change: L472I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000005889
Gene: ENSMUSG00000034116
AA Change: L472I

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

probably benign
Transcript: ENSMUST00000112870
AA Change: L472I

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108491
Gene: ENSMUSG00000034116
AA Change: L472I

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 benign
Transcript: ENSMUST00000169220
AA Change: L448I

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126694
Gene: ENSMUSG00000034116
AA Change: L448I

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: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.2%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp8	T	A	7: 123,065,862 (GRCm39)	V219E	probably damaging	Het
Birc6	T	A	17: 75,004,528 (GRCm39)		probably benign	Het
Bves	C	T	10: 45,223,961 (GRCm39)	T207M	probably damaging	Het
Dlg5	T	C	14: 24,226,676 (GRCm39)	S409G	probably benign	Het
Ehmt2	C	T	17: 35,125,757 (GRCm39)	T607I	probably benign	Het
H2-T22	A	T	17: 36,351,161 (GRCm39)	I307N	possibly damaging	Het
Itih3	T	C	14: 30,630,665 (GRCm39)	D882G	probably damaging	Het
Kmt5c	G	T	7: 4,745,252 (GRCm39)	R81L	possibly damaging	Het
Mcm3ap	C	T	10: 76,313,748 (GRCm39)		probably benign	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nr1i2	A	G	16: 38,073,245 (GRCm39)	S244P	probably damaging	Het
Pcx	A	G	19: 4,652,058 (GRCm39)	D101G	possibly damaging	Het
Prkch	T	C	12: 73,632,163 (GRCm39)	V76A	probably damaging	Het
Skic3	A	G	13: 76,279,533 (GRCm39)	Y655C	probably damaging	Het
Thsd1	A	G	8: 22,749,384 (GRCm39)	K691E	possibly damaging	Het
Tmprss11e	G	A	5: 86,863,477 (GRCm39)	T196I	probably damaging	Het
Trappc13	A	G	13: 104,286,624 (GRCm39)	V211A	probably damaging	Het
Wdr25	G	A	12: 108,992,465 (GRCm39)	E459K	probably damaging	Het
Zdbf2	A	T	1: 63,342,786 (GRCm39)	E388D	possibly damaging	Het
Zfp663	T	C	2: 165,195,890 (GRCm39)	K110E	probably benign	Het
Zfp78	C	A	7: 6,381,618 (GRCm39)	H223N	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
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'- cctcatTGACTGTTGGACTTGCTGA -3'
(R):5'- AGGGCAGTggaggagaagacagaa -3'

Sequencing Primer
(F):5'- CTGTTGGACTTGCTGATGTGTG -3'
(R):5'- gttgttgttgttgttattgttgttg -3'

Posted On

2014-05-09