Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02448:Angptl6'

293609

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Angptl6

Ensembl Gene

ENSMUSG00000038742

Gene Name

angiopoietin-like 6

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

IGL02448

Quality Score

Status

Chromosome

Chromosomal Location

20785104-20791023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20786866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 286 (I286F)

Ref Sequence

ENSEMBL: ENSMUSP00000035784 (fasta)

Gene Model

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

AlphaFold

Q8R0Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000043726
AA Change: I286F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035784
Gene: ENSMUSG00000038742
AA Change: I286F

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: 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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	A	G	12: 52,609,123 (GRCm39)	E1366G	probably damaging	Het
Blzf1	T	A	1: 164,123,350 (GRCm39)	I326F	possibly damaging	Het
Cc2d2a	A	C	5: 43,840,547 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,051,147 (GRCm39)	E366G	possibly damaging	Het
Cdh17	T	C	4: 11,784,680 (GRCm39)	S279P	probably benign	Het
Cdh18	T	C	15: 23,173,875 (GRCm39)	S30P	probably benign	Het
Cep192	A	G	18: 68,002,518 (GRCm39)	T2238A	probably benign	Het
Cpped1	C	T	16: 11,623,253 (GRCm39)	E289K	probably benign	Het
Ctsq	A	T	13: 61,184,044 (GRCm39)	Y293N	probably damaging	Het
Epb41l2	A	G	10: 25,369,493 (GRCm39)	N20S	possibly damaging	Het
Gcc2	T	A	10: 58,128,393 (GRCm39)	C1304*	probably null	Het
Hsd3b5	C	T	3: 98,529,447 (GRCm39)	G61E	probably damaging	Het
Igfals	A	T	17: 25,099,161 (GRCm39)	N84I	probably damaging	Het
Irs2	A	T	8: 11,057,862 (GRCm39)	V190D	probably benign	Het
Kank1	T	A	19: 25,388,739 (GRCm39)	L804Q	probably damaging	Het
Kcnj2	G	T	11: 110,963,108 (GRCm39)	V167L	probably benign	Het
Kif20a	T	C	18: 34,761,507 (GRCm39)	V300A	possibly damaging	Het
Kmt2d	T	C	15: 98,741,991 (GRCm39)		probably benign	Het
Moxd1	T	C	10: 24,158,617 (GRCm39)	F424L	probably damaging	Het
Mpeg1	A	C	19: 12,439,973 (GRCm39)	D477A	probably benign	Het
Mtmr10	A	T	7: 63,957,898 (GRCm39)	Y166F	probably damaging	Het
Muc5b	T	G	7: 141,422,226 (GRCm39)	I4454S	possibly damaging	Het
Ntng1	G	A	3: 109,841,875 (GRCm39)		probably benign	Het
Or52r1b	T	C	7: 102,691,604 (GRCm39)	I306T	possibly damaging	Het
Or7e175	T	A	9: 20,048,937 (GRCm39)	L175*	probably null	Het
Pex11a	A	T	7: 79,387,208 (GRCm39)		probably null	Het
Plcg2	A	G	8: 118,333,960 (GRCm39)	D911G	probably benign	Het
Rc3h2	T	C	2: 37,279,817 (GRCm39)	T471A	probably benign	Het
Rif1	T	A	2: 52,006,708 (GRCm39)	L2214Q	probably damaging	Het
Rtel1	T	A	2: 180,977,830 (GRCm39)	S120T	probably benign	Het
Ryr1	A	G	7: 28,804,491 (GRCm39)		probably benign	Het
Sh3yl1	G	T	12: 30,989,666 (GRCm39)	A129S	probably damaging	Het
Slc25a10	A	G	11: 120,387,879 (GRCm39)	T191A	probably benign	Het
Slc8b1	T	C	5: 120,663,856 (GRCm39)	S359P	probably damaging	Het
Srf	T	C	17: 46,866,349 (GRCm39)	T136A	possibly damaging	Het
Stx1a	G	T	5: 135,052,473 (GRCm39)		probably benign	Het
Taf1d	T	A	9: 15,221,690 (GRCm39)	C224*	probably null	Het
Tnik	A	G	3: 28,675,226 (GRCm39)	S700G	probably null	Het
Ttn	T	C	2: 76,773,331 (GRCm39)	H2357R	probably benign	Het
Ttn	T	C	2: 76,566,458 (GRCm39)	E28145G	probably damaging	Het
Ush1c	C	A	7: 45,858,561 (GRCm39)	V576F	possibly damaging	Het
Xpc	T	C	6: 91,492,726 (GRCm39)	E19G	probably benign	Het
Zdhhc25	G	A	15: 88,485,045 (GRCm39)	V127M	probably damaging	Het

Other mutations in Angptl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02222:Angptl6	APN	9	20,785,203 (GRCm39)	missense	probably damaging	0.99
IGL03064:Angptl6	APN	9	20,786,939 (GRCm39)	nonsense	probably null
R0137:Angptl6	UTSW	9	20,789,683 (GRCm39)	missense	probably benign	0.00
R0669:Angptl6	UTSW	9	20,787,823 (GRCm39)	missense	probably damaging	1.00
R1165:Angptl6	UTSW	9	20,789,604 (GRCm39)	missense	probably benign
R4693:Angptl6	UTSW	9	20,786,598 (GRCm39)	missense	probably damaging	1.00
R5434:Angptl6	UTSW	9	20,786,821 (GRCm39)	missense	probably damaging	0.99
R6518:Angptl6	UTSW	9	20,786,656 (GRCm39)	missense	probably damaging	0.98
R7081:Angptl6	UTSW	9	20,786,644 (GRCm39)	missense	probably damaging	0.98
R7169:Angptl6	UTSW	9	20,786,475 (GRCm39)	missense	probably damaging	1.00
R8855:Angptl6	UTSW	9	20,786,940 (GRCm39)	missense	probably damaging	1.00
R8961:Angptl6	UTSW	9	20,789,467 (GRCm39)	missense	probably benign
Z1177:Angptl6	UTSW	9	20,789,707 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16