Mutagenetix > Incidental Mutation

Incidental Mutation 'R4779:Vav1'

397265

Institutional Source

Beutler Lab

Gene Symbol

Vav1

Ensembl Gene

ENSMUSG00000034116

Gene Name

vav 1 oncogene

Synonyms

MMRRC Submission

045240-MU

Accession Numbers

Essential gene?

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

Stock #

R4779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57586100-57635031 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57603552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 84 (V84I)

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: V108I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005889
Gene: ENSMUSG00000034116
AA Change: V108I

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

possibly damaging
Transcript: ENSMUST00000112870
AA Change: V108I

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108491
Gene: ENSMUSG00000034116
AA Change: V108I

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: V84I

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

SMART Domains

Protein: ENSMUSP00000126694
Gene: ENSMUSG00000034116
AA Change: V84I

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

0.7250

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (95/97)

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
4930562C15Rik	T	A	16: 4,667,613 (GRCm39)	S335T	unknown	Het
4933421I07Rik	T	A	7: 42,097,455 (GRCm39)	H13L	possibly damaging	Het
6030468B19Rik	A	G	11: 117,696,834 (GRCm39)	T185A	probably benign	Het
Abcc1	T	A	16: 14,228,635 (GRCm39)	V294E	probably benign	Het
Abhd16b	A	G	2: 181,135,253 (GRCm39)	T52A	possibly damaging	Het
Actl7a	A	T	4: 56,743,632 (GRCm39)	N53I	probably benign	Het
Ankmy1	T	C	1: 92,814,445 (GRCm39)	E354G	probably benign	Het
Arap1	T	C	7: 101,053,574 (GRCm39)	F1301S	probably damaging	Het
Arfgef1	A	T	1: 10,223,958 (GRCm39)	W1447R	probably damaging	Het
Atoh7	ATGGCGCT	AT	10: 62,936,187 (GRCm39)		probably benign	Het
Ccl24	T	A	5: 135,601,811 (GRCm39)	T6S	possibly damaging	Het
Cep152	G	T	2: 125,410,812 (GRCm39)	P1292Q	possibly damaging	Het
Cfap46	T	C	7: 139,239,731 (GRCm39)		probably benign	Het
Chd6	A	T	2: 160,791,477 (GRCm39)	S2627T	probably damaging	Het
Chd8	A	T	14: 52,468,963 (GRCm39)	S552T	probably damaging	Het
Ciita	C	A	16: 10,329,230 (GRCm39)	L502M	probably damaging	Het
Clic1	T	C	17: 35,271,463 (GRCm39)	F31S	probably damaging	Het
Cntnap1	T	A	11: 101,068,898 (GRCm39)	I147N	possibly damaging	Het
Cplane1	T	C	15: 8,248,322 (GRCm39)	S1624P	probably benign	Het
Crispld1	T	A	1: 17,819,831 (GRCm39)	D276E	probably benign	Het
Cspg4	A	T	9: 56,793,092 (GRCm39)	N276Y	probably damaging	Het
Cspg4b	A	T	13: 113,504,870 (GRCm39)	N2000Y	possibly damaging	Het
Cwf19l2	A	G	9: 3,410,035 (GRCm39)	M55V	possibly damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Dop1b	T	C	16: 93,553,969 (GRCm39)	I301T	probably damaging	Het
Epg5	T	C	18: 78,034,580 (GRCm39)	V1443A	probably benign	Het
Ephb4	T	C	5: 137,363,964 (GRCm39)	V612A	probably benign	Het
Fcgbp	T	A	7: 27,794,362 (GRCm39)	C1189S	probably damaging	Het
Fgfr2	T	G	7: 129,786,923 (GRCm39)		probably benign	Het
Fmn2	A	G	1: 174,437,461 (GRCm39)	E1144G	probably damaging	Het
Fmo3	T	C	1: 162,796,407 (GRCm39)	Y55C	probably damaging	Het
Frmpd1	A	G	4: 45,229,865 (GRCm39)	T11A	probably damaging	Het
Ghdc	G	T	11: 100,660,929 (GRCm39)	Q79K	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm5591	T	C	7: 38,221,680 (GRCm39)	T130A	probably damaging	Het
Heg1	T	G	16: 33,540,142 (GRCm39)	D367E	probably benign	Het
Igkv13-84	C	T	6: 68,916,894 (GRCm39)	P64S	probably damaging	Het
Il10rb	T	A	16: 91,211,545 (GRCm39)	S128T	possibly damaging	Het
Il15ra	T	A	2: 11,723,117 (GRCm39)	I47N	probably damaging	Het
Il33	C	A	19: 29,936,311 (GRCm39)	S207*	probably null	Het
Itgb7	A	G	15: 102,132,848 (GRCm39)	Y155H	possibly damaging	Het
Kdm5a	A	G	6: 120,346,060 (GRCm39)		probably benign	Het
Kif11	G	A	19: 37,406,397 (GRCm39)	V987I	probably benign	Het
Krtap19-2	G	A	16: 88,670,762 (GRCm39)		probably benign	Het
Krtap24-1	T	A	16: 88,408,417 (GRCm39)	R236S	probably damaging	Het
L3mbtl2	A	G	15: 81,566,813 (GRCm39)	I406V	probably benign	Het
Lrp2	A	T	2: 69,290,059 (GRCm39)	H3593Q	possibly damaging	Het
Mavs	G	T	2: 131,082,285 (GRCm39)	W56C	probably damaging	Het
Mn1	C	T	5: 111,567,526 (GRCm39)	P499S	probably damaging	Het
Ntn5	T	A	7: 45,340,895 (GRCm39)	C178S	probably damaging	Het
Nufip2	A	G	11: 77,577,154 (GRCm39)	H34R	unknown	Het
Or5p51	T	A	7: 107,444,755 (GRCm39)	M62L	possibly damaging	Het
Or6f2	T	A	7: 139,756,363 (GRCm39)	L110Q	probably damaging	Het
Osbpl10	C	T	9: 114,938,598 (GRCm39)	S86L	probably damaging	Het
Pitpna	T	A	11: 75,511,153 (GRCm39)	M242K	possibly damaging	Het
Pnpla6	T	C	8: 3,572,838 (GRCm39)	V345A	probably benign	Het
Polk	A	G	13: 96,632,999 (GRCm39)		probably null	Het
Polr3k	A	G	2: 181,506,340 (GRCm39)	Y30C	probably damaging	Het
Pramel6	A	G	2: 87,339,941 (GRCm39)	H235R	probably benign	Het
Ptpra	G	A	2: 130,379,537 (GRCm39)	V364I	probably damaging	Het
Recql	A	G	6: 142,309,426 (GRCm39)		probably benign	Het
Ring1	T	C	17: 34,241,263 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Samsn1	C	A	16: 75,744,177 (GRCm39)		noncoding transcript	Het
Scara5	A	G	14: 65,968,198 (GRCm39)	H157R	probably benign	Het
Sdc3	C	T	4: 130,546,376 (GRCm39)	P245L	probably damaging	Het
Slc18b1	T	A	10: 23,696,767 (GRCm39)	M318K	possibly damaging	Het
Slc26a10	C	T	10: 127,009,224 (GRCm39)	A638T	possibly damaging	Het
Slc35f2	T	A	9: 53,717,013 (GRCm39)	W259R	possibly damaging	Het
Spata13	G	A	14: 60,991,356 (GRCm39)	W366*	probably null	Het
Sptlc3	A	G	2: 139,431,509 (GRCm39)	T344A	probably benign	Het
Tap1	T	C	17: 34,412,865 (GRCm39)	V560A	probably damaging	Het
Tbc1d1	T	C	5: 64,435,389 (GRCm39)		probably null	Het
Tlr11	A	G	14: 50,598,707 (GRCm39)	Y231C	possibly damaging	Het
Tmem245	A	T	4: 56,936,468 (GRCm39)	S230T	possibly damaging	Het
Tnnt3	C	T	7: 142,068,020 (GRCm39)		probably benign	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Tshz2	A	G	2: 169,804,601 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,397 (GRCm39)	S129P	probably damaging	Het
Ttc6	A	T	12: 57,776,237 (GRCm39)	N1727I	probably damaging	Het
Ttc7b	A	G	12: 100,369,621 (GRCm39)	S383P	probably damaging	Het
Tulp3	T	A	6: 128,300,083 (GRCm39)	I448F	probably damaging	Het
Ube3b	T	C	5: 114,542,778 (GRCm39)		probably null	Het
Vav3	A	T	3: 109,416,110 (GRCm39)	K243I	possibly damaging	Het
Vmn1r25	T	A	6: 57,956,011 (GRCm39)	I93F	probably damaging	Het
Vmn2r73	C	T	7: 85,520,923 (GRCm39)	W348*	probably null	Het
Zdbf2	A	G	1: 63,342,397 (GRCm39)	R259G	possibly 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
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
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'- ATTGCCTTGTCTTGCCTGAG -3'
(R):5'- GGCCACTGTAAATATCTTCGTCG -3'

Sequencing Primer
(F):5'- CCTGAGTGATTGTGTGGACC -3'
(R):5'- GTAAATATCTTCGTCGTTCAGAGCGC -3'

Posted On

2016-07-05