Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03379:Vat1l'

420603

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vat1l

Ensembl Gene

ENSMUSG00000046844

Gene Name

vesicle amine transport protein 1 like

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL03379

Quality Score

Status

Chromosome

Chromosomal Location

114932352-115100811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115009006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 247 (I247F)

Ref Sequence

ENSEMBL: ENSMUSP00000053431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049509]

AlphaFold

Q80TB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049509
AA Change: I247F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053431
Gene: ENSMUSG00000046844
AA Change: I247F

Domain	Start	End	E-Value	Type
Pfam:ADH_N	66	142	3.9e-14	PFAM
Pfam:ADH_zinc_N	190	302	1.4e-11	PFAM
Pfam:ADH_zinc_N_2	221	376	1.1e-14	PFAM
low complexity region	389	408	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,809,602 (GRCm39)	T260A	probably damaging	Het
Arhgap21	A	G	2: 20,885,500 (GRCm39)	V559A	probably benign	Het
Arrdc5	G	A	17: 56,601,589 (GRCm39)	Q179*	probably null	Het
Atrnl1	T	C	19: 57,630,973 (GRCm39)	Y247H	probably benign	Het
Bend5	T	A	4: 111,311,468 (GRCm39)	S361T	probably benign	Het
Cdc20b	A	G	13: 113,217,736 (GRCm39)	D385G	probably damaging	Het
Cep120	C	T	18: 53,842,208 (GRCm39)	S709N	probably benign	Het
Eif2b4	A	G	5: 31,347,355 (GRCm39)		probably benign	Het
Eif2s1	T	A	12: 78,913,354 (GRCm39)	D18E	probably benign	Het
Etl4	G	A	2: 20,666,827 (GRCm39)	S209N	possibly damaging	Het
Farp2	T	A	1: 93,535,160 (GRCm39)	F636L	probably benign	Het
Fcgbp	A	T	7: 27,789,342 (GRCm39)	D636V	possibly damaging	Het
Gm5082	T	C	13: 41,809,902 (GRCm39)		noncoding transcript	Het
Gtf2ird1	C	T	5: 134,411,392 (GRCm39)	G672D	possibly damaging	Het
Heatr3	A	G	8: 88,876,738 (GRCm39)	K143R	probably benign	Het
Hrc	A	G	7: 44,986,679 (GRCm39)	E610G	probably benign	Het
Ica1l	G	A	1: 60,036,780 (GRCm39)	S337F	probably benign	Het
Ighv1-43	T	C	12: 114,909,625 (GRCm39)	Y99C	probably benign	Het
Kcna3	T	A	3: 106,944,521 (GRCm39)	F261L	probably benign	Het
Kdm4d	T	C	9: 14,375,139 (GRCm39)	R240G	probably damaging	Het
Kidins220	T	A	12: 25,058,447 (GRCm39)	I620N	probably damaging	Het
Kif5c	A	G	2: 49,591,104 (GRCm39)	M55V	probably damaging	Het
Oas1a	A	T	5: 121,035,062 (GRCm39)	L366Q	possibly damaging	Het
Or5p68	T	C	7: 107,946,196 (GRCm39)		probably benign	Het
Pds5b	T	C	5: 150,711,796 (GRCm39)	V918A	probably damaging	Het
Plcz1	G	A	6: 139,936,490 (GRCm39)	L580F	possibly damaging	Het
Prlr	C	A	15: 10,319,403 (GRCm39)	P147T	possibly damaging	Het
Ptpn18	A	T	1: 34,509,338 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,397,379 (GRCm39)	C1109*	probably null	Het
Ralgapa2	A	T	2: 146,199,907 (GRCm39)	S1212R	probably benign	Het
Scn2b	T	A	9: 45,037,498 (GRCm39)	C182S	probably damaging	Het
Slc7a14	A	T	3: 31,277,664 (GRCm39)	M647K	probably damaging	Het
Sult2a6	G	A	7: 13,956,511 (GRCm39)	T250I	probably benign	Het
Syn3	A	T	10: 85,900,736 (GRCm39)	M384K	possibly damaging	Het
Tmem8b	A	G	4: 43,685,561 (GRCm39)	T596A	probably benign	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Vmn2r110	T	C	17: 20,803,906 (GRCm39)	D223G	probably damaging	Het
Wdr11	T	A	7: 129,200,847 (GRCm39)	D99E	probably damaging	Het
Zan	C	T	5: 137,462,477 (GRCm39)	V901I	unknown	Het

Other mutations in Vat1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Vat1l	APN	8	115,096,629 (GRCm39)	missense	possibly damaging	0.89
R0504:Vat1l	UTSW	8	114,963,319 (GRCm39)	splice site	probably benign
R1222:Vat1l	UTSW	8	115,009,101 (GRCm39)	splice site	probably benign
R1418:Vat1l	UTSW	8	115,009,101 (GRCm39)	splice site	probably benign
R1859:Vat1l	UTSW	8	114,998,041 (GRCm39)	missense	probably damaging	1.00
R3777:Vat1l	UTSW	8	114,963,540 (GRCm39)	critical splice donor site	probably null
R3778:Vat1l	UTSW	8	114,963,540 (GRCm39)	critical splice donor site	probably null
R4154:Vat1l	UTSW	8	114,932,543 (GRCm39)	missense	possibly damaging	0.94
R4158:Vat1l	UTSW	8	115,098,469 (GRCm39)	missense	probably benign	0.32
R4160:Vat1l	UTSW	8	115,098,469 (GRCm39)	missense	probably benign	0.32
R4285:Vat1l	UTSW	8	114,932,523 (GRCm39)	missense	probably damaging	0.97
R4507:Vat1l	UTSW	8	114,932,556 (GRCm39)	missense	probably benign	0.02
R5316:Vat1l	UTSW	8	115,011,088 (GRCm39)	missense	probably damaging	1.00
R6306:Vat1l	UTSW	8	115,098,391 (GRCm39)	missense	probably damaging	1.00
R7031:Vat1l	UTSW	8	114,998,172 (GRCm39)	missense	possibly damaging	0.60
R7162:Vat1l	UTSW	8	114,963,518 (GRCm39)	missense	probably damaging	0.99
R7378:Vat1l	UTSW	8	115,016,132 (GRCm39)	missense	possibly damaging	0.93
R7472:Vat1l	UTSW	8	114,963,539 (GRCm39)	critical splice donor site	probably null
R7662:Vat1l	UTSW	8	115,009,084 (GRCm39)	missense	probably damaging	1.00
R9269:Vat1l	UTSW	8	115,016,172 (GRCm39)	missense	probably damaging	1.00
RF032:Vat1l	UTSW	8	115,016,069 (GRCm39)	missense	probably damaging	1.00
RF035:Vat1l	UTSW	8	115,016,069 (GRCm39)	missense	probably damaging	1.00
X0062:Vat1l	UTSW	8	114,963,363 (GRCm39)	missense	probably damaging	1.00
X0062:Vat1l	UTSW	8	114,963,362 (GRCm39)	missense	probably damaging	1.00
Z1188:Vat1l	UTSW	8	114,932,463 (GRCm39)	missense	probably damaging	0.96

Posted On

2016-08-02