Mutagenetix > Incidental Mutation

Incidental Mutation 'R5503:Vav1'

430785

Institutional Source

Beutler Lab

Gene Symbol

Vav1

Ensembl Gene

ENSMUSG00000034116

Gene Name

vav 1 oncogene

Synonyms

MMRRC Submission

043064-MU

Accession Numbers

Essential gene?

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

Stock #

R5503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57586100-57635031 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 57610079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 420 (K420*)

Ref Sequence

ENSEMBL: ENSMUSP00000126694 (fasta)

Gene Model

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

AlphaFold

P27870

Predicted Effect

probably null
Transcript: ENSMUST00000005889
AA Change: K444*

SMART Domains

Protein: ENSMUSP00000005889
Gene: ENSMUSG00000034116
AA Change: K444*

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 null
Transcript: ENSMUST00000112870
AA Change: K444*

SMART Domains

Protein: ENSMUSP00000108491
Gene: ENSMUSG00000034116
AA Change: K444*

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 null
Transcript: ENSMUST00000169220
AA Change: K420*

SMART Domains

Protein: ENSMUSP00000126694
Gene: ENSMUSG00000034116
AA Change: K420*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.4%
20x: 91.5%

Validation Efficiency

96% (103/107)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Abca6	A	G	11: 110,109,083 (GRCm39)	S696P	probably damaging	Het
Abca9	G	A	11: 110,032,436 (GRCm39)	T727M	probably damaging	Het
Alpk2	T	C	18: 65,439,312 (GRCm39)	R1161G	probably benign	Het
Amy1	T	C	3: 113,349,709 (GRCm39)	D487G	probably benign	Het
Arap2	G	A	5: 62,787,529 (GRCm39)	A1409V	probably damaging	Het
B4galt6	C	A	18: 20,878,409 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,014,480 (GRCm39)	G382D	probably damaging	Het
Camk2a	A	G	18: 61,111,072 (GRCm39)	D87G	probably damaging	Het
Cdh18	A	G	15: 23,436,620 (GRCm39)	Y492C	probably damaging	Het
Cert1	C	T	13: 96,679,747 (GRCm39)	R26C	possibly damaging	Het
Col18a1	C	T	10: 76,907,454 (GRCm39)	G861D	probably damaging	Het
Crybg1	C	A	10: 43,874,762 (GRCm39)	S782I	probably benign	Het
Csgalnact1	G	A	8: 68,914,125 (GRCm39)	L27F	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dapk1	T	C	13: 60,873,126 (GRCm39)	F343L	probably benign	Het
Dgat1	A	T	15: 76,386,394 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,844,186 (GRCm39)		probably null	Het
Dsg2	T	A	18: 20,713,708 (GRCm39)	Y226*	probably null	Het
Epg5	T	A	18: 77,994,422 (GRCm39)	M351K	possibly damaging	Het
F13b	A	G	1: 139,450,281 (GRCm39)	T648A	probably benign	Het
Fgf17	T	C	14: 70,874,408 (GRCm39)	Y127C	probably damaging	Het
Fkbp15	G	A	4: 62,246,124 (GRCm39)	P435S	probably benign	Het
Gfm1	G	A	3: 67,361,060 (GRCm39)		probably null	Het
Gigyf1	T	C	5: 137,521,729 (GRCm39)		probably benign	Het
Gm12830	A	T	4: 114,678,936 (GRCm39)	T6S	unknown	Het
Gm6465	A	T	5: 11,898,150 (GRCm39)	N88I	probably damaging	Het
Gpr18	C	T	14: 122,149,159 (GRCm39)	V289I	probably damaging	Het
Ipp	G	T	4: 116,395,135 (GRCm39)	E557*	probably null	Het
Klhl12	T	A	1: 134,413,653 (GRCm39)		probably null	Het
Klhl38	A	G	15: 58,185,745 (GRCm39)	V328A	possibly damaging	Het
Kndc1	A	G	7: 139,511,802 (GRCm39)	T1470A	probably damaging	Het
Kntc1	T	A	5: 123,957,939 (GRCm39)	D2173E	possibly damaging	Het
Lipi	T	C	16: 75,370,864 (GRCm39)	K118E	probably benign	Het
Marf1	A	C	16: 13,970,095 (GRCm39)	L208R	probably damaging	Het
Misp	G	A	10: 79,662,552 (GRCm39)	R323K	probably damaging	Het
Mlxip	T	A	5: 123,533,390 (GRCm39)	M133K	probably damaging	Het
Mon2	A	T	10: 122,868,550 (GRCm39)	M501K	possibly damaging	Het
Myh2	A	G	11: 67,064,275 (GRCm39)	I77V	probably benign	Het
Napa	C	A	7: 15,849,549 (GRCm39)	Q254K	probably benign	Het
Nckap5l	C	A	15: 99,323,503 (GRCm39)	G1000V	probably damaging	Het
Neo1	A	T	9: 58,892,933 (GRCm39)	S236R	possibly damaging	Het
Neurl4	T	A	11: 69,797,194 (GRCm39)	Y594N	probably damaging	Het
Nmral1	G	A	16: 4,533,493 (GRCm39)	P94L	probably benign	Het
Notch3	A	T	17: 32,366,029 (GRCm39)	I1024N	probably benign	Het
Nsd1	T	A	13: 55,393,752 (GRCm39)	I451K	probably damaging	Het
Nt5c3b	T	C	11: 100,323,883 (GRCm39)	D143G	probably benign	Het
Oplah	A	G	15: 76,189,646 (GRCm39)		probably null	Het
Or13a17	A	C	7: 140,271,309 (GRCm39)	M164L	probably benign	Het
Or2ak4	T	A	11: 58,649,154 (GRCm39)	V221E	probably damaging	Het
Or6b2b	C	A	1: 92,418,918 (GRCm39)	K186N	probably benign	Het
Or7d10	A	G	9: 19,831,675 (GRCm39)	T57A	probably benign	Het
Or8b48	T	C	9: 38,493,368 (GRCm39)	V265A	probably benign	Het
Or8g19	A	G	9: 39,055,780 (GRCm39)	N128S	probably benign	Het
Phb2	T	A	6: 124,689,985 (GRCm39)		probably benign	Het
Plcl2	A	G	17: 50,816,957 (GRCm39)	I108V	probably benign	Het
Plpp6	T	A	19: 28,942,146 (GRCm39)	M249K	probably damaging	Het
Pnpt1	G	A	11: 29,088,156 (GRCm39)	G189E	probably damaging	Het
Pramel17	A	T	4: 101,692,999 (GRCm39)	Y334N	probably benign	Het
Ptprn	C	T	1: 75,228,519 (GRCm39)	V853M	probably damaging	Het
Ptprq	T	C	10: 107,524,189 (GRCm39)		probably null	Het
Rai1	G	A	11: 60,077,279 (GRCm39)	V448I	probably benign	Het
Rbm20	T	A	19: 53,839,785 (GRCm39)	C925S	possibly damaging	Het
Rin3	C	A	12: 102,279,314 (GRCm39)	P41Q	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,505 (GRCm39)		noncoding transcript	Het
Rpl39-ps	A	T	15: 102,543,561 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	A	10: 43,783,879 (GRCm39)	D133E	probably benign	Het
Ryr1	T	C	7: 28,768,453 (GRCm39)	K2839E	possibly damaging	Het
Septin5	T	C	16: 18,442,118 (GRCm39)	K268R	probably benign	Het
Serpinb6b	T	A	13: 33,161,642 (GRCm39)	D238E	possibly damaging	Het
Slc15a2	C	T	16: 36,582,747 (GRCm39)	V214M	probably damaging	Het
Smarca2	T	C	19: 26,601,336 (GRCm39)	M18T	probably damaging	Het
Smarca2	C	A	19: 26,659,446 (GRCm39)	T912K	possibly damaging	Het
Smdt1	A	T	15: 82,232,101 (GRCm39)	R46S	possibly damaging	Het
Spa17	A	C	9: 37,523,273 (GRCm39)	F5V	probably damaging	Het
Spag17	A	G	3: 99,934,560 (GRCm39)	E614G	possibly damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,083,635 (GRCm39)	V314D	probably damaging	Het
Trappc8	A	T	18: 20,969,957 (GRCm39)	L1011Q	probably benign	Het
Tsga10	A	G	1: 37,800,028 (GRCm39)	*691Q	probably null	Het
Vmn1r174	C	G	7: 23,453,562 (GRCm39)	T76R	probably benign	Het
Vmn2r116	A	G	17: 23,605,778 (GRCm39)	E230G	probably benign	Het
Vps13b	A	G	15: 35,452,312 (GRCm39)	T637A	probably damaging	Het
Zbtb7a	A	G	10: 80,980,631 (GRCm39)	E275G	probably damaging	Het
Zfp280b	A	G	10: 75,875,296 (GRCm39)		probably null	Het
Zfp763	A	G	17: 33,238,507 (GRCm39)	Y213H	possibly damaging	Het
Zfp78	T	A	7: 6,381,528 (GRCm39)	W161R	probably benign	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
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'- GGTTAAGGTTAGGATGCGAACC -3'
(R):5'- AGGCTGTCTAGACCATCCAAAC -3'

Sequencing Primer
(F):5'- GTTAGGATGCGAACCCACAGC -3'
(R):5'- GAGGTTGCCTCTGAACTCTAAC -3'

Posted On

2016-10-05