Mutagenetix > Incidental Mutation

Incidental Mutation 'R5723:Vamp4'

452303

Institutional Source

Beutler Lab

Gene Symbol

Vamp4

Ensembl Gene

ENSMUSG00000026696

Gene Name

vesicle-associated membrane protein 4

Synonyms

D1Ertd147e

MMRRC Submission

043341-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

R5723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162398084-162426651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162401932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 5 (F5L)

Ref Sequence

ENSEMBL: ENSMUSP00000142298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050010] [ENSMUST00000132158] [ENSMUST00000135241] [ENSMUST00000150040] [ENSMUST00000155003] [ENSMUST00000194810]

AlphaFold

O70480

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050010
AA Change: F5L

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051544
Gene: ENSMUSG00000026696
AA Change: F5L

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC
Pfam:Synaptobrevin	49	137	7.7e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128704

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132158
AA Change: F5L

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121977
Gene: ENSMUSG00000026696
AA Change: F5L

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC
Pfam:Synaptobrevin	49	137	7.7e-32	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135241
AA Change: F5L

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116376
Gene: ENSMUSG00000026696
AA Change: F5L

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC
Pfam:Synaptobrevin	49	137	1.2e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138499

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150040
AA Change: F5L

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115133
Gene: ENSMUSG00000026696
AA Change: F5L

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC
Pfam:Synaptobrevin	49	137	7.8e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155003
AA Change: F5L

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114172
Gene: ENSMUSG00000026696
AA Change: F5L

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC
Pfam:Synaptobrevin	49	137	7.8e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194810
AA Change: F5L

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142298
Gene: ENSMUSG00000026696
AA Change: F5L

Domain	Start	End	E-Value	Type
low complexity region	27	35	N/A	INTRINSIC
PDB:2NPS\|A	46	77	1e-12	PDB

Meta Mutation Damage Score

0.0783

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,844,445 (GRCm39)	D862G	possibly damaging	Het
Abcg2	C	T	6: 58,655,336 (GRCm39)	Q109*	probably null	Het
Acbd7	A	G	2: 3,341,455 (GRCm39)	Y33C	probably damaging	Het
Actl7a	A	G	4: 56,744,310 (GRCm39)	D279G	probably damaging	Het
Akr1c18	A	T	13: 4,194,328 (GRCm39)	Y110*	probably null	Het
Akt1	T	C	12: 112,623,704 (GRCm39)	K276E	probably damaging	Het
Bcas2	A	G	3: 103,084,608 (GRCm39)		probably benign	Het
C9	T	A	15: 6,516,297 (GRCm39)	Y367N	probably damaging	Het
Cd163	A	G	6: 124,296,022 (GRCm39)	T789A	probably benign	Het
Cers6	T	A	2: 68,938,789 (GRCm39)	S344T	probably benign	Het
Clcn4	A	G	7: 7,294,681 (GRCm39)	V329A	probably damaging	Het
Crisp3	A	C	17: 40,546,804 (GRCm39)	V38G	probably damaging	Het
Cyp2b23	A	G	7: 26,380,821 (GRCm39)	F135L	probably benign	Het
Cyrib	A	T	15: 63,828,447 (GRCm39)		probably null	Het
Ddr2	A	T	1: 169,816,089 (GRCm39)	C539*	probably null	Het
Efna5	T	A	17: 62,914,458 (GRCm39)	D189V	probably damaging	Het
Endov	G	T	11: 119,390,675 (GRCm39)	V70F	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem3	A	T	8: 81,340,026 (GRCm39)	H773L	probably benign	Het
Gm43302	T	A	5: 105,365,352 (GRCm39)	Q552L	possibly damaging	Het
Gramd1a	A	T	7: 30,833,908 (GRCm39)	W506R	probably damaging	Het
Hmcn1	C	T	1: 150,570,600 (GRCm39)	V2188I	possibly damaging	Het
Ifit1bl2	A	G	19: 34,597,458 (GRCm39)	F53L	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif5a	GGGTTGGT	GGGT	10: 127,066,898 (GRCm39)		probably null	Het
Krt16	A	G	11: 100,139,272 (GRCm39)	Y149H	probably damaging	Het
Krtap5-2	A	T	7: 141,728,742 (GRCm39)	C313S	unknown	Het
Mreg	A	G	1: 72,201,527 (GRCm39)	I155T	probably damaging	Het
Nans	T	C	4: 46,499,083 (GRCm39)	F130S	probably benign	Het
Nox4	T	C	7: 86,954,181 (GRCm39)		probably benign	Het
Or3a1d	C	A	11: 74,237,954 (GRCm39)	W32L	possibly damaging	Het
Or52ad1	A	T	7: 102,995,826 (GRCm39)	M103K	possibly damaging	Het
Or56a3	C	A	7: 104,740,309 (GRCm39)	C179F	probably damaging	Het
Or5k15	A	T	16: 58,709,976 (GRCm39)	Y202*	probably null	Het
Pgap6	CGGGG	CGGGGG	17: 26,339,536 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,784,497 (GRCm39)	T348A	probably benign	Het
Poteg	T	C	8: 27,940,020 (GRCm39)		probably null	Het
Prom1	T	G	5: 44,172,236 (GRCm39)	N585T	probably benign	Het
Rfc1	T	C	5: 65,434,769 (GRCm39)	S666G	probably null	Het
Rilp	A	G	11: 75,403,687 (GRCm39)		probably benign	Het
Serpina3i	A	G	12: 104,231,759 (GRCm39)	E132G	probably benign	Het
Serpina3m	T	C	12: 104,360,170 (GRCm39)	V414A	probably damaging	Het
Sfrp4	T	C	13: 19,807,868 (GRCm39)	F89S	probably damaging	Het
Stat5a	A	G	11: 100,772,900 (GRCm39)	H692R	probably benign	Het
Tex29	A	T	8: 11,904,279 (GRCm39)		probably benign	Het
Tmc5	T	A	7: 118,271,416 (GRCm39)	F910I	probably damaging	Het
Tusc3	G	A	8: 39,538,651 (GRCm39)	G230D	possibly damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Upb1	A	T	10: 75,264,105 (GRCm39)	I184F	probably damaging	Het
Zfp583	C	A	7: 6,326,674 (GRCm39)	Q68H	probably damaging	Het
Zfp831	A	C	2: 174,487,200 (GRCm39)	H625P	probably benign	Het
Zfp941	G	A	7: 140,392,763 (GRCm39)		probably benign	Het

Other mutations in Vamp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02240:Vamp4	APN	1	162,405,446 (GRCm39)	missense	possibly damaging	0.92
R0103:Vamp4	UTSW	1	162,417,108 (GRCm39)	missense	possibly damaging	0.92
R0103:Vamp4	UTSW	1	162,417,108 (GRCm39)	missense	possibly damaging	0.92
R4512:Vamp4	UTSW	1	162,405,457 (GRCm39)	missense	possibly damaging	0.79
R5590:Vamp4	UTSW	1	162,420,248 (GRCm39)	critical splice donor site	probably null
R5591:Vamp4	UTSW	1	162,415,811 (GRCm39)	missense	possibly damaging	0.90
R8831:Vamp4	UTSW	1	162,401,952 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CACTGTGTTCTGACTGCAAGTG -3'
(R):5'- AGAGGAAAACGACTGCCCTG -3'

Sequencing Primer
(F):5'- GGGGAATAACATCCATTTTTGTTCTG -3'
(R):5'- GGAAAACGACTGCCCTGTTTCTG -3'

Posted On

2017-01-03