Incidental Mutation 'IGL03107:Angpt4'
ID 419007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Angpt4
Ensembl Gene ENSMUSG00000027460
Gene Name angiopoietin 4
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL03107
Quality Score
Status
Chromosome 2
Chromosomal Location 151753130-151787257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151785342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 453 (M453V)
Ref Sequence ENSEMBL: ENSMUSP00000028955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028955]
AlphaFold Q9WVH6
Predicted Effect probably benign
Transcript: ENSMUST00000028955
AA Change: M453V

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028955
Gene: ENSMUSG00000027460
AA Change: M453V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142642
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q probably damaging Het
Other mutations in Angpt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:Angpt4 APN 2 151,753,391 (GRCm39) missense probably damaging 0.99
IGL03343:Angpt4 APN 2 151,778,623 (GRCm39) missense probably damaging 1.00
R0034:Angpt4 UTSW 2 151,771,311 (GRCm39) missense probably benign 0.44
R0709:Angpt4 UTSW 2 151,776,434 (GRCm39) missense possibly damaging 0.46
R0764:Angpt4 UTSW 2 151,753,204 (GRCm39) start gained probably benign
R0853:Angpt4 UTSW 2 151,780,847 (GRCm39) missense probably damaging 1.00
R1796:Angpt4 UTSW 2 151,780,909 (GRCm39) missense probably damaging 1.00
R2091:Angpt4 UTSW 2 151,778,703 (GRCm39) splice site probably benign
R2184:Angpt4 UTSW 2 151,780,874 (GRCm39) missense probably damaging 1.00
R2901:Angpt4 UTSW 2 151,753,259 (GRCm39) missense unknown
R3014:Angpt4 UTSW 2 151,771,517 (GRCm39) missense probably benign 0.07
R4192:Angpt4 UTSW 2 151,785,238 (GRCm39) missense probably benign
R4440:Angpt4 UTSW 2 151,786,566 (GRCm39) missense probably damaging 1.00
R5059:Angpt4 UTSW 2 151,776,360 (GRCm39) missense probably damaging 1.00
R5326:Angpt4 UTSW 2 151,767,464 (GRCm39) critical splice donor site probably null
R6345:Angpt4 UTSW 2 151,771,354 (GRCm39) missense probably benign 0.00
R7232:Angpt4 UTSW 2 151,771,460 (GRCm39) missense possibly damaging 0.63
R7313:Angpt4 UTSW 2 151,767,326 (GRCm39) missense probably benign
R7456:Angpt4 UTSW 2 151,780,987 (GRCm39) missense probably damaging 1.00
R7598:Angpt4 UTSW 2 151,767,445 (GRCm39) missense possibly damaging 0.95
R7823:Angpt4 UTSW 2 151,753,286 (GRCm39) missense unknown
R8261:Angpt4 UTSW 2 151,769,084 (GRCm39) missense probably benign 0.00
R8682:Angpt4 UTSW 2 151,769,005 (GRCm39) missense probably benign 0.00
R8730:Angpt4 UTSW 2 151,771,467 (GRCm39) missense probably damaging 0.99
R8861:Angpt4 UTSW 2 151,767,373 (GRCm39) missense probably damaging 1.00
R9359:Angpt4 UTSW 2 151,780,892 (GRCm39) missense probably damaging 0.98
R9403:Angpt4 UTSW 2 151,780,892 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02