Incidental Mutation 'IGL02900:Angpt4'
ID 363545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Angpt4
Ensembl Gene ENSMUSG00000027460
Gene Name angiopoietin 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02900
Quality Score
Status
Chromosome 2
Chromosomal Location 151911210-151945337 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151911471 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 47 (V47E)
Ref Sequence ENSEMBL: ENSMUSP00000028955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028955]
AlphaFold Q9WVH6
Predicted Effect probably damaging
Transcript: ENSMUST00000028955
AA Change: V47E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028955
Gene: ENSMUSG00000027460
AA Change: V47E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 86 95 N/A INTRINSIC
coiled coil region 181 239 N/A INTRINSIC
low complexity region 253 267 N/A INTRINSIC
FBG 292 507 2.23e-98 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the angiopoietin family of secreted growth factors comprising Angiopoietins-1, -2, and -3, all of which bind the TEK Receptor Tyrosine Kinase. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is involved in survival and migration of endothelial cells and regulates vascular remodeling and maintenance of vascular integrity. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is also required for lymphangiogenesis. Family members bind TEK Receptor Tyrosine Kinase as multimeric clusters but their oligomerization properties differ from one another and this is thought to provide a mechanistic basis for their distinct physiologic roles. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,837,948 T23N possibly damaging Het
Arhgef11 G A 3: 87,733,160 R1208Q probably benign Het
Calb1 T C 4: 15,895,695 probably benign Het
Capn11 G T 17: 45,630,614 probably null Het
Carmil2 T A 8: 105,695,519 I1140N probably damaging Het
Cnn3 A T 3: 121,451,494 T23S probably benign Het
Colgalt2 C T 1: 152,508,730 T607M probably damaging Het
Cyp46a1 T G 12: 108,343,091 V93G probably damaging Het
Dcaf6 T C 1: 165,399,775 Y261C probably damaging Het
Dnah10 A G 5: 124,801,822 Y2715C probably damaging Het
Dsg1a G T 18: 20,328,656 probably benign Het
Eml4 C T 17: 83,477,992 P862L probably benign Het
Gm13088 A T 4: 143,655,515 F204I possibly damaging Het
Gm5414 T C 15: 101,627,807 T128A probably damaging Het
Gp9 G T 6: 87,779,433 W143C probably damaging Het
Hipk2 T C 6: 38,729,944 I670V probably damaging Het
Hoxa10 T C 6: 52,232,561 K77R possibly damaging Het
Kcna1 T G 6: 126,643,094 S88R probably damaging Het
Kif1b A T 4: 149,180,809 S1758T possibly damaging Het
Klk11 A G 7: 43,778,413 T182A probably damaging Het
Lrp1 G A 10: 127,576,647 probably benign Het
Magi1 A G 6: 93,686,873 S991P probably damaging Het
Mast4 T A 13: 102,735,676 T2203S probably benign Het
Mxra8 A G 4: 155,841,211 probably null Het
Mxra8 A G 4: 155,841,119 E95G possibly damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr112 A G 17: 37,563,849 I154T possibly damaging Het
Olfr452 T A 6: 42,790,874 Y278* probably null Het
Olfr967 A T 9: 39,750,605 H73L probably benign Het
Olfr971 T A 9: 39,839,812 I126N probably damaging Het
Pbx4 A G 8: 69,866,566 E249G probably damaging Het
Pkd1l2 T C 8: 117,024,091 E1727G probably benign Het
Plec T G 15: 76,186,214 D932A probably damaging Het
Raph1 T C 1: 60,502,863 D364G probably damaging Het
Rps29 T A 12: 69,159,051 H3L probably damaging Het
Sema4c A T 1: 36,550,745 C509* probably null Het
Srgap2 A T 1: 131,411,796 probably benign Het
Stam2 A T 2: 52,708,197 D243E probably benign Het
Stxbp4 A G 11: 90,607,035 L146P probably benign Het
Teddm3 G T 16: 21,153,150 T223K probably benign Het
Tfap2d A T 1: 19,119,250 N285Y probably damaging Het
Tmprss3 T A 17: 31,184,579 D416V probably damaging Het
Vmn1r71 T A 7: 10,748,674 Y29F probably benign Het
Vmn2r84 T C 10: 130,387,992 probably benign Het
Washc2 G T 6: 116,227,474 D362Y probably damaging Het
Wbp2nl T C 15: 82,313,834 S191P probably benign Het
Zfp608 T C 18: 54,946,793 T307A probably damaging Het
Zfp970 T C 2: 177,474,817 probably benign Het
Other mutations in Angpt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03107:Angpt4 APN 2 151943422 missense probably benign 0.08
IGL03343:Angpt4 APN 2 151936703 missense probably damaging 1.00
R0034:Angpt4 UTSW 2 151929391 missense probably benign 0.44
R0709:Angpt4 UTSW 2 151934514 missense possibly damaging 0.46
R0764:Angpt4 UTSW 2 151911284 start gained probably benign
R0853:Angpt4 UTSW 2 151938927 missense probably damaging 1.00
R1796:Angpt4 UTSW 2 151938989 missense probably damaging 1.00
R2091:Angpt4 UTSW 2 151936783 splice site probably benign
R2184:Angpt4 UTSW 2 151938954 missense probably damaging 1.00
R2901:Angpt4 UTSW 2 151911339 missense unknown
R3014:Angpt4 UTSW 2 151929597 missense probably benign 0.07
R4192:Angpt4 UTSW 2 151943318 missense probably benign
R4440:Angpt4 UTSW 2 151944646 missense probably damaging 1.00
R5059:Angpt4 UTSW 2 151934440 missense probably damaging 1.00
R5326:Angpt4 UTSW 2 151925544 critical splice donor site probably null
R6345:Angpt4 UTSW 2 151929434 missense probably benign 0.00
R7232:Angpt4 UTSW 2 151929540 missense possibly damaging 0.63
R7313:Angpt4 UTSW 2 151925406 missense probably benign
R7456:Angpt4 UTSW 2 151939067 missense probably damaging 1.00
R7598:Angpt4 UTSW 2 151925525 missense possibly damaging 0.95
R7823:Angpt4 UTSW 2 151911366 missense unknown
R8261:Angpt4 UTSW 2 151927164 missense probably benign 0.00
R8682:Angpt4 UTSW 2 151927085 missense probably benign 0.00
R8730:Angpt4 UTSW 2 151929547 missense probably damaging 0.99
R8861:Angpt4 UTSW 2 151925453 missense probably damaging 1.00
R9359:Angpt4 UTSW 2 151938972 missense probably damaging 0.98
R9403:Angpt4 UTSW 2 151938972 missense probably damaging 0.98
Posted On 2015-12-18