Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01613:Vav1'

92239

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vav1

Ensembl Gene

ENSMUSG00000034116

Gene Name

vav 1 oncogene

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.362) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

57279100-57328031 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57307067 bp

Zygosity

Heterozygous

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

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

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

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

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
Endlich	UTSW	17	57297086	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 On

2013-12-09