Incidental Mutation 'IGL02534:Aggf1'
ID297437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aggf1
Ensembl Gene ENSMUSG00000021681
Gene Nameangiogenic factor with G patch and FHA domains 1
Synonyms2010009L17Rik, 2310029P06Rik, VG5Q
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.516) question?
Stock #IGL02534
Quality Score
Status
Chromosome13
Chromosomal Location95350683-95375352 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 95369522 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 186 (E186K)
Ref Sequence ENSEMBL: ENSMUSP00000022189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022189]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022189
AA Change: E186K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022189
Gene: ENSMUSG00000021681
AA Change: E186K

DomainStartEndE-ValueType
coiled coil region 20 85 N/A INTRINSIC
low complexity region 128 137 N/A INTRINSIC
low complexity region 184 201 N/A INTRINSIC
internal_repeat_1 205 225 4.68e-9 PROSPERO
internal_repeat_1 221 241 4.68e-9 PROSPERO
low complexity region 270 280 N/A INTRINSIC
low complexity region 356 370 N/A INTRINSIC
low complexity region 380 401 N/A INTRINSIC
FHA 430 484 1.51e-9 SMART
low complexity region 548 561 N/A INTRINSIC
G_patch 614 660 1.31e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161671
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous null embryos die before E8.5. Heterozygotes exhibit defective angiogenesis in yolk sacs and embryos and partial lethality. Surviving adults show hemorrhages, increased vascular permeability, and reduced tumor growth of implanted melanoma cell lines. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks1b A G 10: 90,895,117 I932V probably benign Het
Atg2b A G 12: 105,643,267 Y1361H probably damaging Het
Bcl9 G T 3: 97,215,229 L85M probably damaging Het
Bcl9l T G 9: 44,505,739 S291R probably benign Het
Cpa2 T A 6: 30,550,768 D201E probably benign Het
Efna5 A T 17: 62,613,389 C164* probably null Het
Fam160b2 A T 14: 70,585,688 H642Q probably damaging Het
Fam160b2 T A 14: 70,586,190 H580L probably benign Het
Gm6316 A G 12: 69,920,989 probably benign Het
Gm996 G T 2: 25,577,031 S956* probably null Het
Gucy2g A G 19: 55,241,068 S57P probably damaging Het
Inf2 C A 12: 112,610,496 A968E unknown Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mcm5 T A 8: 75,114,233 V222E probably damaging Het
Muc5b A G 7: 141,844,719 Y287C unknown Het
Olfr1037 A G 2: 86,085,369 M136T probably damaging Het
Olfr1121 T G 2: 87,372,254 S241A probably benign Het
Olfr292 G A 7: 86,694,731 V92M probably benign Het
Olfr538 A T 7: 140,574,641 M163L probably benign Het
Pabpc1l A G 2: 164,027,490 D70G probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Ppp1r17 C A 6: 56,026,460 S86* probably null Het
Rasd1 A G 11: 59,964,789 M6T possibly damaging Het
Rsph14 C A 10: 74,957,634 V345F probably damaging Het
Slc11a2 T A 15: 100,401,326 Q121L probably benign Het
Smc5 A T 19: 23,228,172 probably null Het
Tanc2 T C 11: 105,835,168 L386P probably damaging Het
Tmem9b A T 7: 109,736,957 L160Q probably damaging Het
Trim32 A G 4: 65,614,669 T488A possibly damaging Het
Tubb1 A G 2: 174,455,669 I24V probably benign Het
Upf1 A T 8: 70,335,652 probably null Het
Zfp263 T A 16: 3,746,415 probably benign Het
Other mutations in Aggf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Aggf1 APN 13 95362477 missense probably damaging 1.00
IGL01083:Aggf1 APN 13 95356409 missense probably damaging 1.00
IGL01296:Aggf1 APN 13 95353971 missense probably damaging 1.00
IGL01811:Aggf1 APN 13 95351572 missense probably benign 0.04
IGL02089:Aggf1 APN 13 95370929 missense probably benign 0.22
IGL02351:Aggf1 APN 13 95352850 splice site probably benign
IGL02358:Aggf1 APN 13 95352850 splice site probably benign
PIT4687001:Aggf1 UTSW 13 95364875 missense probably damaging 0.99
R0090:Aggf1 UTSW 13 95364959 missense probably benign 0.01
R0189:Aggf1 UTSW 13 95356480 splice site probably benign
R0332:Aggf1 UTSW 13 95369446 missense probably damaging 1.00
R0334:Aggf1 UTSW 13 95371597 missense probably benign 0.02
R0445:Aggf1 UTSW 13 95354001 missense possibly damaging 0.74
R0523:Aggf1 UTSW 13 95356416 missense probably damaging 0.99
R0575:Aggf1 UTSW 13 95368397 missense probably benign 0.02
R0647:Aggf1 UTSW 13 95371656 splice site probably null
R1401:Aggf1 UTSW 13 95364848 missense probably benign 0.02
R1495:Aggf1 UTSW 13 95356413 nonsense probably null
R1542:Aggf1 UTSW 13 95370942 missense probably benign 0.00
R1688:Aggf1 UTSW 13 95364767 missense probably damaging 1.00
R2225:Aggf1 UTSW 13 95370846 missense probably damaging 0.96
R2226:Aggf1 UTSW 13 95370846 missense probably damaging 0.96
R4405:Aggf1 UTSW 13 95371594 missense probably benign 0.00
R4764:Aggf1 UTSW 13 95364713 missense probably damaging 0.96
R5819:Aggf1 UTSW 13 95351621 missense possibly damaging 0.76
R5878:Aggf1 UTSW 13 95369557 missense probably benign 0.18
R5946:Aggf1 UTSW 13 95371576 missense probably damaging 1.00
R6056:Aggf1 UTSW 13 95371615 missense probably benign 0.00
R6823:Aggf1 UTSW 13 95364723 missense probably benign 0.11
R7051:Aggf1 UTSW 13 95351617 missense possibly damaging 0.94
R7638:Aggf1 UTSW 13 95356413 nonsense probably null
R7682:Aggf1 UTSW 13 95368426 missense probably benign 0.41
R7903:Aggf1 UTSW 13 95356458 missense probably damaging 1.00
R7986:Aggf1 UTSW 13 95356458 missense probably damaging 1.00
RF014:Aggf1 UTSW 13 95370768 missense possibly damaging 0.87
X0010:Aggf1 UTSW 13 95364977 missense probably benign
X0064:Aggf1 UTSW 13 95362870 missense probably damaging 1.00
Posted On2015-04-16