Incidental Mutation 'IGL03064:Angptl6'
ID409610
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? Possibly non essential (E-score: 0.367) question?
Stock #IGL03064
Quality Score
Status
Chromosome9
Chromosomal Location20873808-20879727 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 20875643 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 261 (Y261*)
Ref Sequence ENSEMBL: ENSMUSP00000035784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043726] [ENSMUST00000043911]
Predicted Effect probably null
Transcript: ENSMUST00000043726
AA Change: Y261*
SMART Domains Protein: ENSMUSP00000035784
Gene: ENSMUSG00000038742
AA Change: Y261*

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,575,641 T210A probably damaging Het
Adgb T A 10: 10,400,572 T351S probably benign Het
Akap9 A G 5: 3,968,755 H1112R probably damaging Het
Arhgef10l A C 4: 140,579,279 F395V probably damaging Het
Bub1 T C 2: 127,817,453 N328S probably benign Het
Cacna1s A G 1: 136,111,993 N1186D probably damaging Het
Cacna2d2 C A 9: 107,509,275 F200L probably damaging Het
Calca G A 7: 114,633,684 S110L probably benign Het
Ccdc120 G A X: 7,735,362 P263S probably benign Het
Dgki C A 6: 37,149,664 probably benign Het
Ear1 G T 14: 43,819,045 S122* probably null Het
F5 A T 1: 164,195,594 T1574S probably benign Het
Fam227b T C 2: 126,126,842 probably null Het
Gm20521 T A 14: 54,897,223 S301T possibly damaging Het
Hsd17b7 A T 1: 169,959,718 I239N probably benign Het
Itih1 C A 14: 30,941,557 E163D probably benign Het
Lama1 A T 17: 67,779,104 Y1446F probably benign Het
Lama3 C T 18: 12,439,349 T537M possibly damaging Het
Lars G T 18: 42,221,571 Y770* probably null Het
Lrp2 A T 2: 69,483,133 V2418E probably damaging Het
Maip1 A G 1: 57,407,200 E143G probably damaging Het
Mast4 G T 13: 102,760,964 S739* probably null Het
Mctp1 C T 13: 76,801,513 Q555* probably null Het
Med14 A T X: 12,747,503 D291E probably benign Het
Mgat2 T A 12: 69,185,003 V117D probably damaging Het
Mllt1 A T 17: 56,900,094 M250K probably benign Het
Myt1 A C 2: 181,797,801 Y372S probably benign Het
Naa16 T A 14: 79,339,628 Q735H probably damaging Het
Ncf4 A G 15: 78,250,902 Y53C probably damaging Het
Nlrp4a A T 7: 26,449,509 K180N probably benign Het
Nova1 A G 12: 46,700,078 V472A probably damaging Het
Nup153 T C 13: 46,693,839 T705A probably benign Het
Odf2 T A 2: 29,901,079 N79K probably benign Het
Olfr1303 A G 2: 111,814,423 I101T possibly damaging Het
Pard3b G A 1: 62,198,771 probably benign Het
Pde8b G A 13: 95,046,398 T388I probably damaging Het
Pet2 A G X: 89,405,251 V424A possibly damaging Het
Phactr2 A G 10: 13,388,713 probably benign Het
Phf12 T C 11: 77,983,360 S17P probably damaging Het
Psmg2 T A 18: 67,646,032 L90* probably null Het
Ryr2 T C 13: 11,643,902 probably null Het
Sec23b T C 2: 144,582,032 F534L probably benign Het
Sin3b A G 8: 72,757,058 probably benign Het
Slc30a5 A T 13: 100,811,310 L463Q probably damaging Het
Slc35g3 T C 11: 69,761,069 H52R possibly damaging Het
Slc6a3 G T 13: 73,571,466 S538I probably damaging Het
Socs2 G T 10: 95,412,851 C133* probably null Het
Srebf2 G A 15: 82,192,222 R691H probably benign Het
Tlr11 C A 14: 50,361,100 P181Q probably damaging Het
Tlr7 T A X: 167,306,207 Q761L possibly damaging Het
Tmem120b T A 5: 123,102,273 Y90N possibly damaging Het
Tpcn1 T C 5: 120,537,566 I778V possibly damaging Het
Ttll8 T C 15: 88,919,594 T385A probably benign Het
Vmn1r223 G A 13: 23,249,983 R249H probably damaging Het
Vmn2r53 A T 7: 12,601,010 I241N possibly damaging Het
Wdfy3 T C 5: 101,935,997 R808G probably damaging Het
Zfyve26 T A 12: 79,261,791 S231C probably damaging Het
Other mutations in Angptl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02222:Angptl6 APN 9 20873907 missense probably damaging 0.99
IGL02448:Angptl6 APN 9 20875570 missense probably damaging 1.00
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 On2016-08-02