Mutagenetix > Incidental Mutations

Incidental Mutation 'R1165:Angptl6'

262428

Institutional Source

Beutler Lab

Gene Symbol

Angptl6

Ensembl Gene

ENSMUSG00000038742

Gene Name

angiopoietin-like 6

Synonyms

Angiopoietin-related growth factor, 6330404E11Rik, Arp5, AGF

MMRRC Submission

039238-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R1165 (G1)

Quality Score

122

Status

Not validated

Chromosome

Chromosomal Location

20873808-20879727 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 20878308 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 96 (N96T)

Ref Sequence

ENSEMBL: ENSMUSP00000035784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043726] [ENSMUST00000043911]

Predicted Effect

probably benign
Transcript: ENSMUST00000043726
AA Change: N96T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035784
Gene: ENSMUSG00000038742
AA Change: N96T

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
coiled coil region	51	77	N/A	INTRINSIC
coiled coil region	126	164	N/A	INTRINSIC
low complexity region	180	197	N/A	INTRINSIC
FBG	242	455	7.15e-88	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043911

SMART Domains

Protein: ENSMUSP00000045384
Gene: ENSMUSG00000038884

Domain	Start	End	E-Value	Type
Pfam:UPF0515	16	272	1.3e-127	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177067

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

MGI Phenotype

PHENOTYPE: Most mice homozygous for a knock-out allele die around E13 with cardiovascular defects; survivors develop obesity, lipid accumulation in skeletal muscle and liver, hyperglycemia and hyperinsulinemia, and insulin resistance accompanied by reduced energy expenditure and whole-body oxygen consumption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	C	17: 23,710,515		probably benign	Het
2210408I21Rik	T	G	13: 77,334,287	C1209G	probably benign	Het
Abcg2	C	A	6: 58,678,300	L407I	probably benign	Het
Adtrp	A	G	13: 41,814,303	V56A	probably damaging	Het
Ank3	C	A	10: 69,898,302	N780K	possibly damaging	Het
AU040320	A	T	4: 126,823,640		probably benign	Het
Best2	C	T	8: 85,011,160	R202H	probably benign	Het
Bod1l	A	T	5: 41,821,053	S973T	probably benign	Het
Brca2	T	A	5: 150,542,747	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563	P539L	probably benign	Het
Ccr1	A	T	9: 123,963,494	V333E	possibly damaging	Het
Celf5	A	T	10: 81,471,338	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275		probably benign	Het
Coro1b	C	A	19: 4,149,902	H81N	probably damaging	Het
Cwc22	A	T	2: 77,903,898	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,794,041	G45W	probably damaging	Het
Dysf	T	A	6: 84,067,069	N297K	probably damaging	Het
Edem1	T	A	6: 108,851,253	L513Q	probably damaging	Het
Erich1	G	A	8: 14,090,530		probably benign	Het
Fam196b	A	G	11: 34,402,740	T261A	probably benign	Het
Fam91a1	T	C	15: 58,430,669	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,271,782		probably benign	Het
Gas7	T	C	11: 67,670,686		probably benign	Het
Glb1l2	T	C	9: 26,794,101	D151G	probably damaging	Het
Gm14410	A	C	2: 177,193,489	Y327*	probably null	Het
H6pd	A	G	4: 149,995,956	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,764,164		probably benign	Het
Hipk1	T	C	3: 103,761,524	T519A	possibly damaging	Het
Hpd	A	G	5: 123,176,090		probably null	Het
Olfr371	T	A	8: 85,230,771	I92N	probably damaging	Het
Olfr809	A	G	10: 129,776,433	D188G	probably damaging	Het
Pcdha11	A	G	18: 37,007,704		probably benign	Het
Pdgfrb	T	C	18: 61,064,002	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,284,939	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,873,654	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Rtel1	A	G	2: 181,334,939	K243E	probably benign	Het
Slc19a2	G	A	1: 164,263,445	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,909,694		probably null	Het
Slc6a1	T	C	6: 114,311,829	F266L	probably damaging	Het
Snx25	T	G	8: 46,035,715	I868L	probably damaging	Het
Spag16	A	G	1: 69,996,877	I355V	probably benign	Het
Tmem198	A	T	1: 75,479,932		probably benign	Het
Traf3ip3	A	C	1: 193,184,478	S349A	probably damaging	Het
Trim17	A	G	11: 58,971,215	N358D	possibly damaging	Het
Trmu	A	G	15: 85,892,674	T196A	probably damaging	Het
Tsen2	A	G	6: 115,561,435	Y291C	probably damaging	Het
Vps13d	A	G	4: 145,126,471	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,947	H317R	probably benign	Het
Zfp120	A	T	2: 150,119,929	V33E	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het

Other mutations in Angptl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02222:Angptl6	APN	9	20873907	missense	probably damaging	0.99
IGL02448:Angptl6	APN	9	20875570	missense	probably damaging	1.00
IGL03064:Angptl6	APN	9	20875643	nonsense	probably null
R0137:Angptl6	UTSW	9	20878387	missense	probably benign	0.00
R0669:Angptl6	UTSW	9	20876527	missense	probably damaging	1.00
R4693:Angptl6	UTSW	9	20875302	missense	probably damaging	1.00
R5434:Angptl6	UTSW	9	20875525	missense	probably damaging	0.99
R6518:Angptl6	UTSW	9	20875360	missense	probably damaging	0.98
R7081:Angptl6	UTSW	9	20875348	missense	probably damaging	0.98
R7169:Angptl6	UTSW	9	20875179	missense	probably damaging	1.00
Z1177:Angptl6	UTSW	9	20878411	missense	probably damaging	0.99

Predicted Primers

Posted On

2015-02-04