Mutagenetix > Incidental Mutation

Incidental Mutation 'R4154:Vat1l'

315046

Institutional Source

Beutler Lab

Gene Symbol

Vat1l

Ensembl Gene

ENSMUSG00000046844

Gene Name

vesicle amine transport protein 1 like

Synonyms

MMRRC Submission

040998-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4154 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

114932352-115100811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 114932543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 30 (G30R)

Ref Sequence

ENSEMBL: ENSMUSP00000116680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049509] [ENSMUST00000150963]

AlphaFold

Q80TB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049509
AA Change: G30R

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053431
Gene: ENSMUSG00000046844
AA Change: G30R

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: ENSMUST00000142591

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150963
AA Change: G30R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116680
Gene: ENSMUSG00000046844
AA Change: G30R

Domain	Start	End	E-Value	Type
Pfam:ADH_N	83	127	2.2e-6	PFAM

Meta Mutation Damage Score

0.0863

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI593442	A	T	9: 52,589,204 (GRCm39)	H124Q	probably benign	Het
Asph	C	T	4: 9,639,250 (GRCm39)	W38*	probably null	Het
Bicdl2	A	G	17: 23,885,066 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,444,668 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,297,833 (GRCm39)	N67D	probably benign	Het
Cptp	A	G	4: 155,951,657 (GRCm39)	V12A	possibly damaging	Het
Crim1	A	G	17: 78,545,272 (GRCm39)	I145V	probably benign	Het
Ctsc	G	A	7: 87,948,755 (GRCm39)	M195I	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Fas	T	G	19: 34,296,228 (GRCm39)	I180S	possibly damaging	Het
Fsip2	A	C	2: 82,817,413 (GRCm39)	E4382A	possibly damaging	Het
Galnt5	T	G	2: 57,888,505 (GRCm39)	L35R	probably damaging	Het
Gfpt2	G	A	11: 49,726,605 (GRCm39)		probably null	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
Gm14496	A	T	2: 181,636,872 (GRCm39)	H110L	probably benign	Het
Golm1	A	G	13: 59,790,167 (GRCm39)	V211A	probably benign	Het
Gsc2	TGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAG	16: 17,732,666 (GRCm39)		probably benign	Het
Ighv1-72	A	T	12: 115,722,017 (GRCm39)	M7K	probably benign	Het
Igkv12-44	C	T	6: 69,791,639 (GRCm39)	C108Y	possibly damaging	Het
Lum	T	C	10: 97,404,815 (GRCm39)	S237P	probably damaging	Het
Macf1	T	C	4: 123,365,606 (GRCm39)	K3052E	probably damaging	Het
Mdn1	A	G	4: 32,707,475 (GRCm39)	E1588G	probably damaging	Het
Ndst3	T	C	3: 123,465,876 (GRCm39)	Y32C	probably damaging	Het
Nucb2	A	G	7: 116,126,902 (GRCm39)	T172A	probably benign	Het
Or52b1	T	C	7: 104,978,592 (GRCm39)	N269S	probably damaging	Het
Pard3	G	T	8: 128,200,877 (GRCm39)	R978L	probably damaging	Het
Pcdha4	A	G	18: 37,086,639 (GRCm39)		probably null	Het
Pgk2	A	G	17: 40,519,149 (GRCm39)	V93A	probably damaging	Het
Pik3c3	G	A	18: 30,444,336 (GRCm39)	M516I	probably benign	Het
Plxnb2	A	G	15: 89,043,845 (GRCm39)	F1336L	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	C	12: 82,471,988 (GRCm39)	G1323R	possibly damaging	Het
Sntg1	A	T	1: 8,653,569 (GRCm39)		probably null	Het
Spef2	T	C	15: 9,626,107 (GRCm39)	K1153R	probably benign	Het
Strn3	C	T	12: 51,673,914 (GRCm39)	V566M	probably damaging	Het
Svep1	A	G	4: 58,069,068 (GRCm39)	F2906S	possibly damaging	Het
Tbc1d8	C	T	1: 39,425,216 (GRCm39)	V545M	probably damaging	Het
Tmem131	T	C	1: 36,847,874 (GRCm39)		probably benign	Het
Tnfsf8	A	G	4: 63,752,595 (GRCm39)	S157P	probably benign	Het
Tubgcp5	G	A	7: 55,455,077 (GRCm39)	V258M	probably benign	Het
Vegfb	T	C	19: 6,963,446 (GRCm39)	Y106C	probably damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,743,681 (GRCm39)		probably null	Het
Zc3h15	T	C	2: 83,488,913 (GRCm39)	V161A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCACTGAAGAGCATCCC -3'
(R):5'- AGCATCCCCAATCTAGGCTC -3'

Sequencing Primer
(F):5'- GCATCCCACATTCAACAGGAGG -3'
(R):5'- AGGCTCTCCCACCCACTG -3'

Posted On

2015-05-14