Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02222:Angptl6'

285186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Angptl6

Ensembl Gene

ENSMUSG00000038742

Gene Name

angiopoietin-like 6

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

IGL02222

Quality Score

Status

Chromosome

Chromosomal Location

20873808-20879727 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20873907 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 450 (M450K)

Ref Sequence

ENSEMBL: ENSMUSP00000035784 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043726
AA Change: M450K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035784
Gene: ENSMUSG00000038742
AA Change: M450K

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: ENSMUST00000176142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177067

Coding Region Coverage

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,282,886	R1682W	probably benign	Het
Armc12	C	A	17: 28,538,720	N275K	probably damaging	Het
Cd27	T	C	6: 125,234,532	H144R	probably damaging	Het
Cenpf	T	C	1: 189,654,444	K1880E	probably benign	Het
Dchs1	A	T	7: 105,764,887	I907N	probably damaging	Het
Dpy19l4	A	C	4: 11,281,116	F443C	possibly damaging	Het
Eif3i	C	T	4: 129,592,088	D315N	possibly damaging	Het
Fam217a	A	G	13: 34,911,119	L128P	probably damaging	Het
Fam46b	T	C	4: 133,486,553	V245A	probably damaging	Het
Fetub	C	T	16: 22,932,328	L62F	probably damaging	Het
Fmn1	A	T	2: 113,593,109	I1047F	probably damaging	Het
G2e3	A	G	12: 51,363,233	H267R	probably damaging	Het
Gigyf2	A	G	1: 87,410,863		probably null	Het
Gm10650	T	C	3: 128,040,140		noncoding transcript	Het
Grip1	C	T	10: 119,999,809	T470I	probably damaging	Het
Hmcn1	T	G	1: 150,806,401	D466A	probably benign	Het
Lrrc63	T	C	14: 75,086,140	Y548C	probably damaging	Het
Naaa	T	C	5: 92,259,550		probably benign	Het
Parpbp	T	A	10: 88,140,085	E55D	possibly damaging	Het
Pnpt1	G	A	11: 29,130,842	A29T	probably benign	Het
Pnpt1	A	T	11: 29,159,327	D691V	possibly damaging	Het
Pramef6	A	G	4: 143,895,846	M313T	possibly damaging	Het
Psg25	T	C	7: 18,529,727	N57S	probably damaging	Het
Selenbp2	T	A	3: 94,699,962	V168E	probably damaging	Het
Syne2	G	A	12: 75,952,843	E2337K	probably damaging	Het
Synj2	A	G	17: 6,037,480	T1269A	probably benign	Het
Tnfrsf13c	C	A	15: 82,223,163	V144L	probably damaging	Het
Uspl1	G	T	5: 149,194,044	V132L	probably benign	Het
Vmn2r58	T	A	7: 41,864,025	Y398F	possibly damaging	Het
Vps13a	T	A	19: 16,682,175	T1663S	probably benign	Het
Ythdc1	G	A	5: 86,828,043	R503H	possibly damaging	Het

Other mutations in Angptl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1165:Angptl6	UTSW	9	20878308	missense	probably benign
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

Posted On

2015-04-16