Incidental Mutation 'IGL02448:Angptl6'
ID293609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Angptl6
Ensembl Gene ENSMUSG00000038742
Gene Nameangiopoietin-like 6
SynonymsAngiopoietin-related growth factor, 6330404E11Rik, Arp5, AGF
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #IGL02448
Quality Score
Status
Chromosome9
Chromosomal Location20873808-20879727 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 20875570 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 A G 12: 52,562,340 E1366G probably damaging Het
Blzf1 T A 1: 164,295,781 I326F possibly damaging Het
Cc2d2a A C 5: 43,683,205 probably benign Het
Cdc37 T C 9: 21,139,851 E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 S279P probably benign Het
Cdh18 T C 15: 23,173,789 S30P probably benign Het
Cep192 A G 18: 67,869,447 T2238A probably benign Het
Cpped1 C T 16: 11,805,389 E289K probably benign Het
Ctsq A T 13: 61,036,230 Y293N probably damaging Het
Epb41l2 A G 10: 25,493,595 N20S possibly damaging Het
Gcc2 T A 10: 58,292,571 C1304* probably null Het
Hsd3b5 C T 3: 98,622,131 G61E probably damaging Het
Igfals A T 17: 24,880,187 N84I probably damaging Het
Irs2 A T 8: 11,007,862 V190D probably benign Het
Kank1 T A 19: 25,411,375 L804Q probably damaging Het
Kcnj2 G T 11: 111,072,282 V167L probably benign Het
Kif20a T C 18: 34,628,454 V300A possibly damaging Het
Kmt2d T C 15: 98,844,110 probably benign Het
Moxd1 T C 10: 24,282,719 F424L probably damaging Het
Mpeg1 A C 19: 12,462,609 D477A probably benign Het
Mtmr10 A T 7: 64,308,150 Y166F probably damaging Het
Muc5b T G 7: 141,868,489 I4454S possibly damaging Het
Ntng1 G A 3: 109,934,559 probably benign Het
Olfr582 T C 7: 103,042,397 I306T possibly damaging Het
Olfr869 T A 9: 20,137,641 L175* probably null Het
Pex11a A T 7: 79,737,460 probably null Het
Plcg2 A G 8: 117,607,221 D911G probably benign Het
Rc3h2 T C 2: 37,389,805 T471A probably benign Het
Rif1 T A 2: 52,116,696 L2214Q probably damaging Het
Rtel1 T A 2: 181,336,037 S120T probably benign Het
Ryr1 A G 7: 29,105,066 probably benign Het
Sh3yl1 G T 12: 30,939,667 A129S probably damaging Het
Slc25a10 A G 11: 120,497,053 T191A probably benign Het
Slc8b1 T C 5: 120,525,791 S359P probably damaging Het
Srf T C 17: 46,555,423 T136A possibly damaging Het
Stx1a G T 5: 135,023,619 probably benign Het
Taf1d T A 9: 15,310,394 C224* probably null Het
Tnik A G 3: 28,621,077 S700G probably null Het
Ttn T C 2: 76,942,987 H2357R probably benign Het
Ttn T C 2: 76,736,114 E28145G probably damaging Het
Ush1c C A 7: 46,209,137 V576F possibly damaging Het
Xpc T C 6: 91,515,744 E19G probably benign Het
Zdhhc25 G A 15: 88,600,842 V127M probably damaging Het
Other mutations in Angptl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02222:Angptl6 APN 9 20873907 missense probably damaging 0.99
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 On2015-04-16