Incidental Mutation 'IGL03077:Angpt1'
ID 417723
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Angpt1
Ensembl Gene ENSMUSG00000022309
Gene Name angiopoietin 1
Synonyms Angiopoietin-1, 1110046O21Rik, Ang-1, ang1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03077
Quality Score
Status
Chromosome 15
Chromosomal Location 42288119-42540373 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 42339818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 298 (G298*)
Ref Sequence ENSEMBL: ENSMUSP00000022921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022921]
AlphaFold O08538
Predicted Effect probably null
Transcript: ENSMUST00000022921
AA Change: G298*
SMART Domains Protein: ENSMUSP00000022921
Gene: ENSMUSG00000022309
AA Change: G298*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
coiled coil region 194 254 N/A INTRINSIC
FBG 281 496 3.04e-132 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted glycoprotein that belongs to the angiopoietin family of vascular growth factors. The encoded protein is a ligand in the vascular tyrosine kinase signaling pathway and regulates the formation and stabilization of blood vessels. This protein also functions in striated muscles by promoting proliferation, migration and differentiation of skeletal myoblasts and plays an essential role in the vascular response to tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality by E12.5 and deficits in vascular development such as a reduction in vascular branching. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,308 (GRCm39) N135D probably damaging Het
Ak4 T C 4: 101,277,148 (GRCm39) L44P probably damaging Het
Appl2 C T 10: 83,457,623 (GRCm39) probably benign Het
Arhgap19 T A 19: 41,769,760 (GRCm39) H341L probably benign Het
Chmp5 T C 4: 40,952,438 (GRCm39) S98P probably benign Het
Chp1 A T 2: 119,415,081 (GRCm39) Q161L probably benign Het
Clgn T C 8: 84,150,769 (GRCm39) V478A probably benign Het
Cplane1 G A 15: 8,242,279 (GRCm39) probably benign Het
Cyp2b19 A T 7: 26,461,809 (GRCm39) M210L probably benign Het
Eif4g3 T A 4: 137,853,166 (GRCm39) V244D probably damaging Het
Ftcd T C 10: 76,417,461 (GRCm39) I300T probably damaging Het
Gm12886 C T 4: 121,272,697 (GRCm39) probably benign Het
Klrb1f A T 6: 129,030,765 (GRCm39) E92V probably null Het
Krt23 A G 11: 99,374,700 (GRCm39) probably benign Het
Mib2 T G 4: 155,743,900 (GRCm39) R47S probably benign Het
Mindy4 A G 6: 55,286,315 (GRCm39) T728A probably damaging Het
Myh15 A G 16: 48,916,901 (GRCm39) N407S probably benign Het
Nlrp4f A G 13: 65,342,412 (GRCm39) V411A probably benign Het
Or10ag56 T C 2: 87,140,056 (GRCm39) *328Q probably null Het
Or4c12b A C 2: 89,647,486 (GRCm39) D266A probably damaging Het
Otud4 T G 8: 80,400,087 (GRCm39) S934A probably damaging Het
P3h1 C T 4: 119,093,983 (GRCm39) R213W probably damaging Het
Phrf1 A T 7: 140,834,881 (GRCm39) K19* probably null Het
Prl3b1 A T 13: 27,429,759 (GRCm39) M66L probably benign Het
Psmd7 T C 8: 108,309,099 (GRCm39) T149A probably benign Het
Samd4b T C 7: 28,105,868 (GRCm39) D450G probably damaging Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Snrpa G A 7: 26,891,186 (GRCm39) T95I probably benign Het
Traip A G 9: 107,840,125 (GRCm39) probably benign Het
Trbc1 T A 6: 41,515,383 (GRCm39) probably benign Het
Trim72 A T 7: 127,607,013 (GRCm39) M181L probably benign Het
Ttc41 T C 10: 86,594,212 (GRCm39) Y882H probably damaging Het
Vmn1r191 A C 13: 22,363,316 (GRCm39) I146S probably benign Het
Vmn2r9 G T 5: 108,996,173 (GRCm39) probably benign Het
Vps13a A G 19: 16,688,246 (GRCm39) S854P probably benign Het
Wdfy1 T C 1: 79,692,622 (GRCm39) K232E possibly damaging Het
Xpr1 A T 1: 155,156,774 (GRCm39) D625E possibly damaging Het
Zbbx T A 3: 74,989,153 (GRCm39) T317S possibly damaging Het
Other mutations in Angpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Angpt1 APN 15 42,339,863 (GRCm39) missense possibly damaging 0.73
IGL02671:Angpt1 APN 15 42,539,790 (GRCm39) missense possibly damaging 0.79
IGL02876:Angpt1 APN 15 42,290,373 (GRCm39) missense possibly damaging 0.68
IGL03334:Angpt1 APN 15 42,359,808 (GRCm39) missense possibly damaging 0.94
R0226:Angpt1 UTSW 15 42,331,631 (GRCm39) missense probably benign 0.01
R1774:Angpt1 UTSW 15 42,387,012 (GRCm39) missense probably damaging 0.99
R1800:Angpt1 UTSW 15 42,375,800 (GRCm39) missense probably damaging 0.96
R1967:Angpt1 UTSW 15 42,301,703 (GRCm39) missense probably damaging 1.00
R4093:Angpt1 UTSW 15 42,386,941 (GRCm39) missense probably damaging 1.00
R4477:Angpt1 UTSW 15 42,331,560 (GRCm39) missense probably damaging 1.00
R4629:Angpt1 UTSW 15 42,301,796 (GRCm39) missense probably benign 0.01
R4647:Angpt1 UTSW 15 42,539,580 (GRCm39) missense probably benign 0.02
R4648:Angpt1 UTSW 15 42,539,580 (GRCm39) missense probably benign 0.02
R4750:Angpt1 UTSW 15 42,539,797 (GRCm39) missense probably benign 0.00
R5222:Angpt1 UTSW 15 42,539,730 (GRCm39) missense probably damaging 1.00
R5386:Angpt1 UTSW 15 42,301,761 (GRCm39) missense probably damaging 1.00
R5457:Angpt1 UTSW 15 42,386,916 (GRCm39) missense probably damaging 1.00
R5526:Angpt1 UTSW 15 42,375,737 (GRCm39) missense probably damaging 1.00
R6154:Angpt1 UTSW 15 42,387,051 (GRCm39) missense probably damaging 1.00
R6904:Angpt1 UTSW 15 42,323,136 (GRCm39) missense probably benign 0.00
R7009:Angpt1 UTSW 15 42,386,991 (GRCm39) missense possibly damaging 0.83
R7101:Angpt1 UTSW 15 42,386,965 (GRCm39) missense probably benign 0.18
R7139:Angpt1 UTSW 15 42,539,747 (GRCm39) missense probably damaging 1.00
R7234:Angpt1 UTSW 15 42,323,121 (GRCm39) missense probably benign 0.25
R7830:Angpt1 UTSW 15 42,539,664 (GRCm39) missense probably damaging 1.00
R8046:Angpt1 UTSW 15 42,359,752 (GRCm39) missense probably benign 0.00
R8073:Angpt1 UTSW 15 42,301,699 (GRCm39) missense probably benign 0.00
R8093:Angpt1 UTSW 15 42,339,873 (GRCm39) missense probably benign 0.01
R8331:Angpt1 UTSW 15 42,539,653 (GRCm39) missense probably damaging 1.00
R8391:Angpt1 UTSW 15 42,375,794 (GRCm39) missense probably damaging 1.00
R8411:Angpt1 UTSW 15 42,290,430 (GRCm39) missense probably damaging 1.00
R8508:Angpt1 UTSW 15 42,375,795 (GRCm39) missense probably damaging 1.00
R8787:Angpt1 UTSW 15 42,375,780 (GRCm39) missense probably damaging 1.00
R9297:Angpt1 UTSW 15 42,301,751 (GRCm39) missense probably benign
R9318:Angpt1 UTSW 15 42,301,751 (GRCm39) missense probably benign
R9746:Angpt1 UTSW 15 42,539,837 (GRCm39) missense probably benign
Posted On 2016-08-02