Mutagenetix > Incidental Mutation

Incidental Mutation 'R9248:Vat1'

701378

Institutional Source

Beutler Lab

Gene Symbol

Vat1

Ensembl Gene

ENSMUSG00000034993

Gene Name

vesicle amine transport 1

Synonyms

VAT-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R9248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101349574-101357025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101351380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 320 (N320K)

Ref Sequence

ENSEMBL: ENSMUSP00000048350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010502] [ENSMUST00000040430] [ENSMUST00000131024]

AlphaFold

Q62465

Predicted Effect

probably benign
Transcript: ENSMUST00000010502

SMART Domains

Protein: ENSMUSP00000010502
Gene: ENSMUSG00000010358

Domain	Start	End	E-Value	Type
Pfam:IFP_35_N	8	80	9.1e-21	PFAM
Pfam:NID	81	170	1.5e-31	PFAM
Pfam:NID	179	266	1.6e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040430
AA Change: N320K

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048350
Gene: ENSMUSG00000034993
AA Change: N320K

Domain	Start	End	E-Value	Type
low complexity region	3	31	N/A	INTRINSIC
low complexity region	41	60	N/A	INTRINSIC
Pfam:ADH_N	89	157	8.8e-11	PFAM
Pfam:ADH_zinc_N	213	355	2.1e-21	PFAM
Pfam:ADH_zinc_N_2	245	398	6.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131024

SMART Domains

Protein: ENSMUSP00000117189
Gene: ENSMUSG00000010358

Domain	Start	End	E-Value	Type
Pfam:IFP_35_N	8	45	2.7e-13	PFAM

Meta Mutation Damage Score

0.1029

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,983,002 (GRCm39)	N132S	probably benign	Het
Agpat2	A	G	2: 26,483,601 (GRCm39)	*279Q	probably null	Het
Akr1c19	C	A	13: 4,292,974 (GRCm39)	D243E	probably benign	Het
Alg2	A	G	4: 47,474,001 (GRCm39)	F96L	probably benign	Het
Apob	C	T	12: 8,065,231 (GRCm39)	Q4067*	probably null	Het
C1ra	A	T	6: 124,489,580 (GRCm39)		probably benign	Het
C8a	T	C	4: 104,703,199 (GRCm39)	Y330C	probably damaging	Het
Ccdc185	A	G	1: 182,576,221 (GRCm39)	V156A	probably benign	Het
Ces1g	A	G	8: 94,060,319 (GRCm39)	L100P	possibly damaging	Het
Cnbd1	T	C	4: 18,862,113 (GRCm39)	N359S	possibly damaging	Het
Crybb2	C	T	5: 113,211,094 (GRCm39)	A65T	probably benign	Het
Dcaf5	T	C	12: 80,386,563 (GRCm39)	D521G	probably benign	Het
Dnmt1	A	G	9: 20,833,408 (GRCm39)	F631L	possibly damaging	Het
Dok1	T	A	6: 83,008,893 (GRCm39)	D263V	possibly damaging	Het
Ecel1	A	G	1: 87,081,112 (GRCm39)	F293L	probably benign	Het
Ehmt1	A	T	2: 24,738,077 (GRCm39)	L509Q	possibly damaging	Het
Fbln2	T	A	6: 91,231,556 (GRCm39)	V551E	possibly damaging	Het
Fig4	C	T	10: 41,153,478 (GRCm39)	V108I	probably benign	Het
Gpa33	A	G	1: 165,991,396 (GRCm39)	Y209C	probably damaging	Het
Heatr5a	T	C	12: 51,963,026 (GRCm39)	H52R		Het
Heatr9	A	T	11: 83,409,281 (GRCm39)	D157E	possibly damaging	Het
Jakmip2	A	C	18: 43,685,242 (GRCm39)	M682R	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Layn	A	G	9: 50,968,760 (GRCm39)	S328P	possibly damaging	Het
Mblac2	A	G	13: 81,859,769 (GRCm39)	D41G	probably damaging	Het
Mboat1	A	G	13: 30,410,392 (GRCm39)	Y283C	probably damaging	Het
Mdga2	A	G	12: 66,736,226 (GRCm39)	V334A	possibly damaging	Het
Mroh4	C	T	15: 74,485,167 (GRCm39)	R515H	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Or5p59	T	C	7: 107,703,256 (GRCm39)	S247P	probably damaging	Het
Or8c16	T	C	9: 38,130,706 (GRCm39)	Y193H	probably benign	Het
Ostm1	T	C	10: 42,574,210 (GRCm39)	V301A	probably damaging	Het
Pcdhb13	A	T	18: 37,577,608 (GRCm39)	D662V	probably damaging	Het
Pfpl	T	A	19: 12,406,374 (GRCm39)	S208R	probably damaging	Het
Plin5	A	T	17: 56,419,324 (GRCm39)	V366E	probably damaging	Het
Rmi1	A	G	13: 58,556,899 (GRCm39)	I383V	probably benign	Het
Rnh1	T	C	7: 140,740,714 (GRCm39)	T414A	probably benign	Het
Sash1	C	A	10: 8,617,296 (GRCm39)	G537W	probably damaging	Het
Slc9c1	A	G	16: 45,370,551 (GRCm39)	N264S	probably benign	Het
Speg	A	C	1: 75,398,420 (GRCm39)	T1956P	probably damaging	Het
St14	T	C	9: 31,002,905 (GRCm39)	Y666C	probably damaging	Het
Stab2	T	A	10: 86,727,481 (GRCm39)	H1448L	probably damaging	Het
Syne2	C	T	12: 76,154,230 (GRCm39)		probably benign	Het
Taf9	T	A	13: 100,790,860 (GRCm39)		probably benign	Het
Thumpd2	G	A	17: 81,334,040 (GRCm39)	A516V	possibly damaging	Het
Tmem132e	A	G	11: 82,335,308 (GRCm39)	K797E	probably damaging	Het
Tpte	A	G	8: 22,841,489 (GRCm39)	T494A	possibly damaging	Het
Ttc41	T	A	10: 86,567,113 (GRCm39)	L593Q	probably benign	Het
Uggt1	A	C	1: 36,249,103 (GRCm39)	I279S	possibly damaging	Het
Uxs1	A	G	1: 43,804,084 (GRCm39)	F277S	probably damaging	Het
Wdr81	G	T	11: 75,336,256 (GRCm39)	A592E		Het
Zfp780b	C	T	7: 27,673,143 (GRCm39)		probably null	Het
Zfp944	A	T	17: 22,562,619 (GRCm39)		probably null	Het
Zfp956	G	T	6: 47,934,437 (GRCm39)	G136W	possibly damaging	Het

Other mutations in Vat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Vat1	APN	11	101,356,541 (GRCm39)	missense	probably benign	0.00
IGL02073:Vat1	APN	11	101,351,405 (GRCm39)	missense	possibly damaging	0.92
R2114:Vat1	UTSW	11	101,356,568 (GRCm39)	missense	probably damaging	1.00
R4573:Vat1	UTSW	11	101,351,441 (GRCm39)	missense	probably benign	0.13
R4959:Vat1	UTSW	11	101,351,426 (GRCm39)	missense	probably damaging	1.00
R7110:Vat1	UTSW	11	101,356,539 (GRCm39)	missense	possibly damaging	0.65
R7974:Vat1	UTSW	11	101,356,956 (GRCm39)	missense	probably benign	0.23
R8125:Vat1	UTSW	11	101,351,029 (GRCm39)	missense	probably benign	0.13
R8979:Vat1	UTSW	11	101,353,041 (GRCm39)	missense	probably damaging	1.00
R9354:Vat1	UTSW	11	101,351,441 (GRCm39)	missense	probably benign	0.26
R9461:Vat1	UTSW	11	101,353,846 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CCTCAAGCTCACCTTCTCGAAG -3'
(R):5'- GGGCCTAATCCTAAGTTCCAGG -3'

Sequencing Primer
(F):5'- GGGCCAGACTGAGTCAATTC -3'
(R):5'- CCTAAGTTCCAGGATTGTCCGTG -3'

Posted On

2022-03-25