Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01161:Vat1l'

53714

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: 0.063) question?

Stock #

IGL01161

Quality Score

Status

Chromosome

Chromosomal Location

114932352-115100811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115096629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 370 (N370S)

Ref Sequence

ENSEMBL: ENSMUSP00000053431 (fasta)

Gene Model

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

AlphaFold

Q80TB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049509
AA Change: N370S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053431
Gene: ENSMUSG00000046844
AA Change: N370S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124143

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,535,463 (GRCm39)	D543E	probably benign	Het
Acad9	A	C	3: 36,144,274 (GRCm39)	N583T	possibly damaging	Het
Arhgap5	G	A	12: 52,563,643 (GRCm39)	V205M	probably damaging	Het
Arid1b	G	A	17: 5,392,674 (GRCm39)	R2068Q	probably damaging	Het
Bex3	T	C	X: 135,172,218 (GRCm39)	F60S	probably damaging	Het
Casd1	C	T	6: 4,619,833 (GRCm39)	P193S	possibly damaging	Het
Ceacam11	A	T	7: 17,712,435 (GRCm39)	I295F	possibly damaging	Het
Ceacam3	T	A	7: 16,885,782 (GRCm39)	N128K	probably benign	Het
Cyp1a2	C	T	9: 57,587,176 (GRCm39)	E372K	probably damaging	Het
Ddb1	T	G	19: 10,583,071 (GRCm39)	M1R	probably null	Het
Ecel1	T	C	1: 87,080,915 (GRCm39)	D329G	possibly damaging	Het
Fat2	T	C	11: 55,175,017 (GRCm39)	N1899D	probably benign	Het
Gli3	A	G	13: 15,722,983 (GRCm39)		probably null	Het
Gm20507	A	T	17: 33,863,727 (GRCm39)		probably benign	Het
Gml	T	G	15: 74,685,688 (GRCm39)	Y99S	probably damaging	Het
Gpr119	G	T	X: 47,762,125 (GRCm39)		probably benign	Het
Hcn1	T	C	13: 117,793,458 (GRCm39)	Y237H	unknown	Het
Hook2	G	A	8: 85,721,560 (GRCm39)	V273I	probably benign	Het
Il12rb2	T	C	6: 67,338,849 (GRCm39)		probably benign	Het
Kdm2a	A	G	19: 4,369,279 (GRCm39)	F1112S	probably benign	Het
Lpl	A	T	8: 69,345,277 (GRCm39)	K94*	probably null	Het
Lrrc8a	T	A	2: 30,145,822 (GRCm39)	L212Q	probably damaging	Het
Me2	A	T	18: 73,903,887 (GRCm39)		probably benign	Het
Mmp11	A	T	10: 75,762,655 (GRCm39)	M266K	probably benign	Het
Mprip	T	A	11: 59,622,399 (GRCm39)	V162E	possibly damaging	Het
Nsf	C	T	11: 103,752,711 (GRCm39)		probably benign	Het
Or56b2	T	C	7: 104,337,588 (GRCm39)	V122A	probably benign	Het
Pcif1	T	A	2: 164,727,708 (GRCm39)	L167H	probably damaging	Het
Reps1	T	C	10: 17,969,643 (GRCm39)	S249P	probably damaging	Het
Sdf4	T	A	4: 156,093,763 (GRCm39)	M299K	probably benign	Het
Slc30a7	A	G	3: 115,747,759 (GRCm39)	V344A	possibly damaging	Het
Svep1	G	A	4: 58,146,569 (GRCm39)	P358S	probably damaging	Het
Syt9	G	T	7: 107,024,356 (GRCm39)	R83L	probably damaging	Het
Tbc1d15	T	C	10: 115,038,435 (GRCm39)	I593V	probably benign	Het
Trio	T	A	15: 27,749,867 (GRCm39)	N1134I	probably damaging	Het
Trpv3	A	G	11: 73,187,544 (GRCm39)		probably benign	Het
Ugp2	T	A	11: 21,273,273 (GRCm39)	I449L	possibly damaging	Het
Usp24	C	A	4: 106,294,041 (GRCm39)	H2595N	probably benign	Het
Wwc1	C	A	11: 35,758,103 (GRCm39)	D748Y	probably damaging	Het
Zfyve9	G	A	4: 108,538,261 (GRCm39)	H1002Y	probably damaging	Het

Other mutations in Vat1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03379:Vat1l	APN	8	115,009,006 (GRCm39)	missense	probably damaging	0.98
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

2013-06-28