Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00978:Angptl8'

28260

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Angptl8

Ensembl Gene

ENSMUSG00000047822

Gene Name

angiopoietin-like 8

Synonyms

Gm6484, Rifl, Lipasin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

21746806-21748643 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 21748349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000058777] [ENSMUST00000217336]

AlphaFold

Q8R1L8

Predicted Effect

probably benign
Transcript: ENSMUST00000034728

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
Pfam:DUF3398	63	155	4.7e-26	PFAM
low complexity region	419	429	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
Pfam:DOCK-C2	542	721	3.4e-46	PFAM
low complexity region	754	770	N/A	INTRINSIC
low complexity region	776	787	N/A	INTRINSIC
low complexity region	945	965	N/A	INTRINSIC
low complexity region	1057	1072	N/A	INTRINSIC
low complexity region	1123	1153	N/A	INTRINSIC
low complexity region	1173	1190	N/A	INTRINSIC
low complexity region	1340	1356	N/A	INTRINSIC
Pfam:DHR-2	1554	2080	6.6e-214	PFAM
low complexity region	2093	2107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058777

SMART Domains

Protein: ENSMUSP00000058951
Gene: ENSMUSG00000047822

Domain	Start	End	E-Value	Type
low complexity region	171	191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213296

Predicted Effect

probably benign
Transcript: ENSMUST00000216626

Predicted Effect

probably benign
Transcript: ENSMUST00000217336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217515

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted mutation exhibit markedly reduced serum triglyceride levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,241,773 (GRCm39)		probably benign	Het
Alpk2	A	T	18: 65,424,605 (GRCm39)		probably benign	Het
AU040320	T	A	4: 126,722,632 (GRCm39)	D383E	probably benign	Het
Cep97	C	T	16: 55,745,323 (GRCm39)		probably benign	Het
Clcn4	A	T	7: 7,290,672 (GRCm39)	L649H	probably damaging	Het
Col5a2	T	C	1: 45,415,899 (GRCm39)	N1416S	probably benign	Het
Erbb2	C	T	11: 98,326,456 (GRCm39)	P1027S	probably damaging	Het
Eya1	A	G	1: 14,340,925 (GRCm39)		probably benign	Het
Gfm2	T	C	13: 97,299,485 (GRCm39)	I402T	probably benign	Het
Gmeb2	A	T	2: 180,900,836 (GRCm39)	V187E	probably benign	Het
Hectd1	T	C	12: 51,838,173 (GRCm39)	H662R	possibly damaging	Het
Ifne	T	C	4: 88,798,268 (GRCm39)	Q50R	probably benign	Het
Kidins220	A	G	12: 25,107,473 (GRCm39)	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245 (GRCm39)	D146V	probably damaging	Het
Krt36	T	C	11: 99,993,774 (GRCm39)	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,601,188 (GRCm39)	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,804,047 (GRCm39)	H853L	probably benign	Het
Map3k5	G	A	10: 20,017,313 (GRCm39)	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,663,326 (GRCm39)	N148S	probably benign	Het
Mylk3	A	T	8: 86,082,155 (GRCm39)	L211*	probably null	Het
Nras	T	C	3: 102,966,232 (GRCm39)		probably benign	Het
Or2n1c	A	T	17: 38,519,873 (GRCm39)	I246F	probably damaging	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Os9	A	T	10: 126,956,378 (GRCm39)	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,151,228 (GRCm39)	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,359,284 (GRCm39)	R95*	probably null	Het
Rnf17	C	T	14: 56,749,728 (GRCm39)	P1425S	probably damaging	Het
Smad2	T	C	18: 76,432,846 (GRCm39)		probably benign	Het
Ttll5	C	T	12: 85,980,256 (GRCm39)	Q76*	probably null	Het
Uri1	A	T	7: 37,696,156 (GRCm39)		probably benign	Het
Vmn2r102	G	T	17: 19,899,185 (GRCm39)		probably null	Het
Vmn2r70	T	G	7: 85,213,007 (GRCm39)	M467L	probably benign	Het
Zfp318	T	A	17: 46,724,652 (GRCm39)	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,204,855 (GRCm39)	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,200,824 (GRCm39)	H235R	possibly damaging	Het

Other mutations in Angptl8

Allele	Source	Chr	Coord	Type	Predicted Effect
R0842:Angptl8	UTSW	9	21,746,972 (GRCm39)	nonsense	probably null
R2014:Angptl8	UTSW	9	21,748,358 (GRCm39)	splice site	probably null
R2402:Angptl8	UTSW	9	21,747,112 (GRCm39)	critical splice donor site	probably null
R7583:Angptl8	UTSW	9	21,747,210 (GRCm39)	critical splice acceptor site	probably null
R8332:Angptl8	UTSW	9	21,748,137 (GRCm39)	critical splice acceptor site	probably null

Posted On

2013-04-17