Mutagenetix > Incidental Mutation

Incidental Mutation 'R0268:Vav1'

35112

Institutional Source

Beutler Lab

Gene Symbol

Vav1

Ensembl Gene

ENSMUSG00000034116

Gene Name

vav 1 oncogene

Synonyms

MMRRC Submission

038494-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R0268 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

57586100-57635031 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57603090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 81 (F81L)

Ref Sequence

ENSEMBL: ENSMUSP00000126694 (fasta)

Gene Model

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

AlphaFold

P27870

Predicted Effect

probably damaging
Transcript: ENSMUST00000005889
AA Change: F105L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005889
Gene: ENSMUSG00000034116
AA Change: F105L

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 damaging
Transcript: ENSMUST00000112870
AA Change: F105L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108491
Gene: ENSMUSG00000034116
AA Change: F105L

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: F81L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126694
Gene: ENSMUSG00000034116
AA Change: F81L

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

Meta Mutation Damage Score

0.7497

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 95.9%
20x: 93.0%

Validation Efficiency

98% (93/95)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	A	7: 29,274,027 (GRCm39)		noncoding transcript	Het
Aadacl4	A	T	4: 144,349,565 (GRCm39)	H274L	probably benign	Het
Aldh1a7	T	A	19: 20,686,866 (GRCm39)		probably null	Het
Ap3m1	A	C	14: 21,087,170 (GRCm39)		probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Avpr1a	T	C	10: 122,285,614 (GRCm39)	V302A	probably damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Cd209e	T	C	8: 3,899,125 (GRCm39)	I196V	probably benign	Het
Cdc42bpa	G	T	1: 179,983,347 (GRCm39)		probably benign	Het
Cdcp3	A	G	7: 130,839,905 (GRCm39)	D609G	probably damaging	Het
Clec16a	T	A	16: 10,462,692 (GRCm39)	L670*	probably null	Het
Cmtm2b	A	G	8: 105,049,066 (GRCm39)	E27G	probably damaging	Het
Col4a1	T	A	8: 11,317,588 (GRCm39)		probably benign	Het
Cyp26b1	A	T	6: 84,551,554 (GRCm39)	F221I	probably damaging	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dip2c	G	A	13: 9,687,186 (GRCm39)	R1270H	probably damaging	Het
Dlg1	T	C	16: 31,503,011 (GRCm39)	C73R	probably benign	Het
Dnah8	A	G	17: 30,988,681 (GRCm39)	D3217G	probably damaging	Het
Dtx1	T	C	5: 120,819,356 (GRCm39)	E614G	probably damaging	Het
Dut	C	A	2: 125,099,011 (GRCm39)	A166E	probably damaging	Het
Ebf1	C	A	11: 44,534,240 (GRCm39)	D166E	probably damaging	Het
Egln2	A	T	7: 26,864,672 (GRCm39)	D84E	possibly damaging	Het
Exosc7	T	A	9: 122,948,025 (GRCm39)	S65T	probably benign	Het
Fam83e	G	A	7: 45,376,334 (GRCm39)	R349Q	probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,884,868 (GRCm39)	N2582S	probably damaging	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gfral	A	T	9: 76,104,383 (GRCm39)	C210S	probably damaging	Het
Gls	GGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTG	1: 52,271,853 (GRCm39)		probably benign	Het
Hcn4	A	C	9: 58,767,445 (GRCm39)	E1002A	unknown	Het
Hcrtr2	A	G	9: 76,135,470 (GRCm39)	V449A	probably benign	Het
Hectd1	T	C	12: 51,815,891 (GRCm39)	S1394G	possibly damaging	Het
Hectd1	C	A	12: 51,815,890 (GRCm39)	S1394I	probably damaging	Het
Hecw2	A	G	1: 53,965,857 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itsn2	G	A	12: 4,750,333 (GRCm39)	R1199Q	probably benign	Het
Kcnj3	C	A	2: 55,484,971 (GRCm39)	Y356*	probably null	Het
Klb	T	A	5: 65,506,180 (GRCm39)	D142E	probably benign	Het
Klhl35	T	A	7: 99,120,958 (GRCm39)	S409T	probably benign	Het
Krt16	T	A	11: 100,137,351 (GRCm39)		probably benign	Het
Krt82	C	A	15: 101,450,148 (GRCm39)	R516L	probably benign	Het
Lce3a	A	T	3: 92,833,038 (GRCm39)	C21S	unknown	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Map2	A	T	1: 66,419,881 (GRCm39)	K71*	probably null	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Mycbp2	T	A	14: 103,551,761 (GRCm39)	R157*	probably null	Het
Nat10	C	A	2: 103,558,262 (GRCm39)		probably benign	Het
Obscn	G	A	11: 58,958,098 (GRCm39)	T3810M	possibly damaging	Het
Or13a19	G	A	7: 139,903,068 (GRCm39)	S152N	possibly damaging	Het
Or1x6	T	A	11: 50,939,768 (GRCm39)	M278K	probably damaging	Het
Or5d35	A	T	2: 87,855,812 (GRCm39)	I249F	probably damaging	Het
Or5g29	A	G	2: 85,421,645 (GRCm39)	T254A	possibly damaging	Het
Or6c209	A	T	10: 129,483,045 (GRCm39)	D16V	possibly damaging	Het
Or7a38	C	T	10: 78,753,439 (GRCm39)	T255I	probably damaging	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgm2	T	A	5: 64,263,151 (GRCm39)	V266E	probably damaging	Het
Phip	G	A	9: 82,753,341 (GRCm39)	T1801I	probably damaging	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Ppp1r12a	T	A	10: 108,109,242 (GRCm39)		probably benign	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Ptprq	A	T	10: 107,541,409 (GRCm39)	D372E	probably benign	Het
Ptprr	G	A	10: 116,088,868 (GRCm39)	V340I	possibly damaging	Het
Qki	A	G	17: 10,428,575 (GRCm39)		probably benign	Het
Qpct	T	A	17: 79,385,081 (GRCm39)	D240E	probably benign	Het
Ren1	A	G	1: 133,283,349 (GRCm39)	T162A	possibly damaging	Het
Rif1	T	C	2: 51,980,298 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,890,460 (GRCm39)	V461A	probably damaging	Het
Saxo4	A	G	19: 10,454,449 (GRCm39)	V329A	possibly damaging	Het
Scgb1b24	G	A	7: 33,443,278 (GRCm39)	G19R	probably null	Het
Spen	A	T	4: 141,204,868 (GRCm39)	I1253N	unknown	Het
Sspo	C	A	6: 48,442,489 (GRCm39)	H1995N	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Togaram2	T	C	17: 72,004,993 (GRCm39)		probably null	Het
Trim65	T	A	11: 116,017,470 (GRCm39)		probably benign	Het
Trpm3	T	A	19: 22,874,885 (GRCm39)		probably null	Het
Ubxn7	T	C	16: 32,178,864 (GRCm39)	I87T	probably benign	Het
Vmn2r102	A	G	17: 19,898,112 (GRCm39)	T376A	probably benign	Het
Vmn2r105	A	T	17: 20,428,938 (GRCm39)	C713S	probably benign	Het
Zbtb45	C	T	7: 12,742,254 (GRCm39)	M1I	probably null	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	probably benign	Het
Zfp932	T	C	5: 110,156,929 (GRCm39)	I176T	probably benign	Het
Zswim1	G	A	2: 164,668,046 (GRCm39)	E433K	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
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
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'- ACACCATATTGTATCCCCAGCCTCATTT -3'
(R):5'- TCACTCAGGCAAGACAAGGCAATAAC -3'

Sequencing Primer
(F):5'- AGCCTCATTTCTCTTTGCCATAG -3'
(R):5'- GTGAACAGACCCTTGAACTTG -3'

Posted On

2013-05-09