Incidental Mutation 'IGL03369:Angptl3'
ID 420243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Angptl3
Ensembl Gene ENSMUSG00000028553
Gene Name angiopoietin-like 3
Synonyms hypl
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # IGL03369
Quality Score
Status
Chromosome 4
Chromosomal Location 98919191-98926429 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 98923057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030280] [ENSMUST00000030286] [ENSMUST00000075836] [ENSMUST00000127417] [ENSMUST00000205650]
AlphaFold Q9R182
Predicted Effect probably benign
Transcript: ENSMUST00000030280
SMART Domains Protein: ENSMUSP00000030280
Gene: ENSMUSG00000028553

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
Blast:FBG 195 240 6e-8 BLAST
FBG 241 454 1.5e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000030286
SMART Domains Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556

DomainStartEndE-ValueType
Pfam:DUF3398 67 159 6.5e-30 PFAM
coiled coil region 367 394 N/A INTRINSIC
low complexity region 493 504 N/A INTRINSIC
Pfam:DOCK-C2 557 736 1.8e-51 PFAM
low complexity region 789 799 N/A INTRINSIC
low complexity region 862 873 N/A INTRINSIC
low complexity region 888 901 N/A INTRINSIC
low complexity region 1135 1163 N/A INTRINSIC
low complexity region 1350 1364 N/A INTRINSIC
low complexity region 1543 1565 N/A INTRINSIC
Pfam:DHR-2 1571 2095 1.4e-217 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075836
SMART Domains Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556

DomainStartEndE-ValueType
Pfam:DUF3398 65 159 5.8e-34 PFAM
coiled coil region 367 394 N/A INTRINSIC
low complexity region 493 504 N/A INTRINSIC
Pfam:DOCK-C2 556 737 3.3e-58 PFAM
low complexity region 789 799 N/A INTRINSIC
low complexity region 862 873 N/A INTRINSIC
low complexity region 888 901 N/A INTRINSIC
low complexity region 1105 1133 N/A INTRINSIC
low complexity region 1320 1334 N/A INTRINSIC
low complexity region 1513 1535 N/A INTRINSIC
Pfam:Ded_cyto 1888 2065 6.5e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125546
Predicted Effect probably benign
Transcript: ENSMUST00000127417
SMART Domains Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556

DomainStartEndE-ValueType
low complexity region 140 162 N/A INTRINSIC
Pfam:Ded_cyto 517 694 3e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136091
Predicted Effect probably benign
Transcript: ENSMUST00000205650
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the angiopoietin-like family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may inhibit triglyceride metabolism. Homozygous knockout mice for this gene exhibit reduced plasma lipid concentrations, including reduced plasma triglyceride concentrations, and enhanced activity of enzymes involved in triglyceride metabolism. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a disruption in this gene display decreased plasma cholesterol and triglyceride levels. A spontaneous mutation results in a similar phenotype except that there is also a reduction in fat pad weight and decreased free fatty acid levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,333,380 (GRCm39) N72S possibly damaging Het
A2m G A 6: 121,653,862 (GRCm39) probably null Het
Aox4 A G 1: 58,301,746 (GRCm39) D1106G probably benign Het
Capn13 G A 17: 73,648,149 (GRCm39) probably benign Het
Cep250 A G 2: 155,832,191 (GRCm39) H1371R probably benign Het
Chrna1 A T 2: 73,400,789 (GRCm39) F247Y probably benign Het
Col2a1 T C 15: 97,879,923 (GRCm39) T813A unknown Het
Dab2 T C 15: 6,464,790 (GRCm39) V414A possibly damaging Het
Dach2 T C X: 112,465,937 (GRCm39) probably benign Het
Fap A G 2: 62,333,699 (GRCm39) probably benign Het
Fgd5 T A 6: 91,965,396 (GRCm39) V385D probably damaging Het
Fmnl1 A G 11: 103,088,008 (GRCm39) probably null Het
Gorasp2 G A 2: 70,513,336 (GRCm39) G201D probably damaging Het
Gp2 T A 7: 119,050,783 (GRCm39) Q316L probably damaging Het
Gpx8 T C 13: 113,179,696 (GRCm39) I202V probably damaging Het
Gsta3 A G 1: 21,335,173 (GRCm39) K218R probably benign Het
Lama3 C T 18: 12,686,340 (GRCm39) T1195I probably benign Het
Map3k12 T C 15: 102,410,514 (GRCm39) R488G possibly damaging Het
Mapt A T 11: 104,173,259 (GRCm39) Y18F probably damaging Het
Med21 T C 6: 146,544,143 (GRCm39) V12A probably benign Het
Mgat4b A G 11: 50,124,936 (GRCm39) E457G possibly damaging Het
Mybl1 T A 1: 9,742,780 (GRCm39) K609N probably damaging Het
Ncaph2 T G 15: 89,247,858 (GRCm39) V75G probably benign Het
Neb A G 2: 52,068,049 (GRCm39) Y5795H probably benign Het
Nup153 A G 13: 46,854,459 (GRCm39) probably null Het
Or6c215 T C 10: 129,638,340 (GRCm39) D18G probably damaging Het
Or6y1 T A 1: 174,276,435 (GRCm39) I82N probably damaging Het
Plekhf2 G T 4: 10,990,703 (GRCm39) T213K probably benign Het
Plekho2 C A 9: 65,466,776 (GRCm39) G105W probably damaging Het
Polr3b G A 10: 84,512,816 (GRCm39) G566D probably damaging Het
Rasgrf1 T C 9: 89,892,504 (GRCm39) I1068T probably damaging Het
Rnf213 A T 11: 119,312,294 (GRCm39) E907V probably benign Het
Runx1t1 C T 4: 13,881,107 (GRCm39) S469F probably damaging Het
Spata31e4 G T 13: 50,857,200 (GRCm39) C946F possibly damaging Het
Top1 A T 2: 160,535,647 (GRCm39) D182V unknown Het
Uckl1 T C 2: 181,211,982 (GRCm39) T375A probably benign Het
Usp53 A T 3: 122,727,370 (GRCm39) probably benign Het
Vmn2r61 T A 7: 41,909,517 (GRCm39) I14N probably benign Het
Wbp4 A T 14: 79,707,558 (GRCm39) N184K probably damaging Het
Other mutations in Angptl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Angptl3 APN 4 98,923,077 (GRCm39) missense probably damaging 0.99
IGL01859:Angptl3 APN 4 98,925,669 (GRCm39) nonsense probably null
IGL02126:Angptl3 APN 4 98,919,738 (GRCm39) critical splice donor site probably null
IGL02134:Angptl3 APN 4 98,919,349 (GRCm39) missense probably damaging 1.00
IGL02573:Angptl3 APN 4 98,926,171 (GRCm39) missense probably damaging 1.00
IGL02756:Angptl3 APN 4 98,919,399 (GRCm39) missense probably damaging 1.00
R0309:Angptl3 UTSW 4 98,922,706 (GRCm39) missense probably benign 0.32
R0549:Angptl3 UTSW 4 98,919,692 (GRCm39) missense probably benign 0.00
R0675:Angptl3 UTSW 4 98,921,499 (GRCm39) missense probably benign 0.02
R1465:Angptl3 UTSW 4 98,925,757 (GRCm39) missense probably benign 0.01
R1465:Angptl3 UTSW 4 98,925,757 (GRCm39) missense probably benign 0.01
R1738:Angptl3 UTSW 4 98,921,499 (GRCm39) missense probably benign 0.02
R2007:Angptl3 UTSW 4 98,925,634 (GRCm39) missense probably damaging 0.99
R2656:Angptl3 UTSW 4 98,926,201 (GRCm39) missense probably benign 0.01
R3436:Angptl3 UTSW 4 98,921,540 (GRCm39) missense probably benign 0.24
R3437:Angptl3 UTSW 4 98,921,540 (GRCm39) missense probably benign 0.24
R3615:Angptl3 UTSW 4 98,922,702 (GRCm39) missense probably benign 0.06
R3616:Angptl3 UTSW 4 98,922,702 (GRCm39) missense probably benign 0.06
R4161:Angptl3 UTSW 4 98,919,728 (GRCm39) missense probably damaging 0.99
R4534:Angptl3 UTSW 4 98,926,232 (GRCm39) missense possibly damaging 0.73
R4615:Angptl3 UTSW 4 98,919,598 (GRCm39) missense probably benign 0.03
R4835:Angptl3 UTSW 4 98,925,649 (GRCm39) missense probably benign 0.36
R5308:Angptl3 UTSW 4 98,922,723 (GRCm39) missense probably benign 0.33
R5413:Angptl3 UTSW 4 98,919,259 (GRCm39) missense probably benign 0.12
R5668:Angptl3 UTSW 4 98,920,321 (GRCm39) critical splice acceptor site probably null
R5906:Angptl3 UTSW 4 98,925,804 (GRCm39) missense probably benign 0.07
R6520:Angptl3 UTSW 4 98,926,085 (GRCm39) missense probably benign 0.35
R6544:Angptl3 UTSW 4 98,919,675 (GRCm39) missense probably damaging 1.00
R6762:Angptl3 UTSW 4 98,925,654 (GRCm39) missense possibly damaging 0.91
R7889:Angptl3 UTSW 4 98,919,308 (GRCm39) missense probably benign 0.00
R8305:Angptl3 UTSW 4 98,919,548 (GRCm39) missense probably damaging 1.00
R8690:Angptl3 UTSW 4 98,925,759 (GRCm39) missense probably benign 0.00
R9284:Angptl3 UTSW 4 98,919,480 (GRCm39) missense probably benign 0.00
Z1088:Angptl3 UTSW 4 98,922,757 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02