Incidental Mutation 'IGL00835:Aggf1'
ID 12451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aggf1
Ensembl Gene ENSMUSG00000021681
Gene Name angiogenic factor with G patch and FHA domains 1
Synonyms 2310029P06Rik, 2010009L17Rik, VG5Q
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.490) question?
Stock # IGL00835
Quality Score
Status
Chromosome 13
Chromosomal Location 95487191-95511860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 95498985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 450 (V450F)
Ref Sequence ENSEMBL: ENSMUSP00000022189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022189]
AlphaFold Q7TN31
Predicted Effect probably damaging
Transcript: ENSMUST00000022189
AA Change: V450F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022189
Gene: ENSMUSG00000021681
AA Change: V450F

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,341,892 (GRCm39) D1023G probably damaging Het
Agbl3 A G 6: 34,776,667 (GRCm39) D391G probably damaging Het
Alms1 A G 6: 85,599,116 (GRCm39) Y1314C probably damaging Het
Arfgef3 A G 10: 18,537,106 (GRCm39) F192L probably benign Het
Arnt A G 3: 95,397,651 (GRCm39) D541G probably damaging Het
AU040320 A G 4: 126,650,864 (GRCm39) probably null Het
Cep290 A T 10: 100,399,242 (GRCm39) R2255* probably null Het
Creb3l4 T A 3: 90,149,294 (GRCm39) H138L possibly damaging Het
Crispld2 G A 8: 120,737,387 (GRCm39) R46H probably damaging Het
Crlf3 T C 11: 79,938,501 (GRCm39) T379A probably benign Het
Ctsb T A 14: 63,373,099 (GRCm39) D85E probably damaging Het
Etv2 A T 7: 30,333,092 (GRCm39) D325E probably benign Het
Fggy T A 4: 95,725,865 (GRCm39) I335N possibly damaging Het
Fkbp1b C T 12: 4,883,726 (GRCm39) G90S probably damaging Het
Glra3 A G 8: 56,394,012 (GRCm39) probably benign Het
Gpatch8 C A 11: 102,369,375 (GRCm39) A1388S probably damaging Het
Grin2b T A 6: 135,710,568 (GRCm39) S993C probably damaging Het
Gsg1 A T 6: 135,221,090 (GRCm39) M103K possibly damaging Het
Il12rb2 A T 6: 67,337,551 (GRCm39) V110D probably damaging Het
Kat8 A G 7: 127,519,676 (GRCm39) D174G probably damaging Het
Krt82 A T 15: 101,451,813 (GRCm39) I334N probably damaging Het
Lrrfip1 C T 1: 91,043,140 (GRCm39) T515I possibly damaging Het
Lrrtm2 T A 18: 35,347,292 (GRCm39) L3F probably benign Het
Man1c1 T A 4: 134,291,843 (GRCm39) Q575L probably damaging Het
Panx1 A G 9: 14,919,140 (GRCm39) S240P probably damaging Het
Phldb2 G A 16: 45,571,819 (GRCm39) T1191I probably damaging Het
Plb1 G A 5: 32,521,516 (GRCm39) E1456K unknown Het
Prtn3 A G 10: 79,716,886 (GRCm39) T84A probably benign Het
R3hdm1 T C 1: 128,163,369 (GRCm39) probably benign Het
Sirpa G A 2: 129,451,103 (GRCm39) C121Y probably damaging Het
Slc9a3 C A 13: 74,308,421 (GRCm39) H475N probably benign Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Spata16 A T 3: 26,978,411 (GRCm39) E459V probably damaging Het
Sult2a4 T A 7: 13,643,714 (GRCm39) E284D probably benign Het
Tbc1d32 A G 10: 55,965,942 (GRCm39) probably benign Het
Thsd7a A C 6: 12,554,933 (GRCm39) V317G probably damaging Het
Trh T C 6: 92,219,770 (GRCm39) E182G probably benign Het
Tsc1 A G 2: 28,562,478 (GRCm39) D368G possibly damaging Het
Ttc39d T G 17: 80,523,955 (GRCm39) C205G probably damaging Het
Unc79 T G 12: 103,108,149 (GRCm39) probably benign Het
Vps13d A T 4: 144,887,222 (GRCm39) D724E probably damaging Het
Zc3h14 T A 12: 98,713,783 (GRCm39) probably null Het
Zfp507 G T 7: 35,475,463 (GRCm39) H917N probably damaging Het
Other mutations in Aggf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Aggf1 APN 13 95,492,917 (GRCm39) missense probably damaging 1.00
IGL01296:Aggf1 APN 13 95,490,479 (GRCm39) missense probably damaging 1.00
IGL01811:Aggf1 APN 13 95,488,080 (GRCm39) missense probably benign 0.04
IGL02089:Aggf1 APN 13 95,507,437 (GRCm39) missense probably benign 0.22
IGL02351:Aggf1 APN 13 95,489,358 (GRCm39) splice site probably benign
IGL02358:Aggf1 APN 13 95,489,358 (GRCm39) splice site probably benign
IGL02534:Aggf1 APN 13 95,506,030 (GRCm39) missense possibly damaging 0.76
PIT4687001:Aggf1 UTSW 13 95,501,383 (GRCm39) missense probably damaging 0.99
R0090:Aggf1 UTSW 13 95,501,467 (GRCm39) missense probably benign 0.01
R0189:Aggf1 UTSW 13 95,492,988 (GRCm39) splice site probably benign
R0332:Aggf1 UTSW 13 95,505,954 (GRCm39) missense probably damaging 1.00
R0334:Aggf1 UTSW 13 95,508,105 (GRCm39) missense probably benign 0.02
R0445:Aggf1 UTSW 13 95,490,509 (GRCm39) missense possibly damaging 0.74
R0523:Aggf1 UTSW 13 95,492,924 (GRCm39) missense probably damaging 0.99
R0575:Aggf1 UTSW 13 95,504,905 (GRCm39) missense probably benign 0.02
R0647:Aggf1 UTSW 13 95,508,164 (GRCm39) splice site probably null
R1401:Aggf1 UTSW 13 95,501,356 (GRCm39) missense probably benign 0.02
R1495:Aggf1 UTSW 13 95,492,921 (GRCm39) nonsense probably null
R1542:Aggf1 UTSW 13 95,507,450 (GRCm39) missense probably benign 0.00
R1688:Aggf1 UTSW 13 95,501,275 (GRCm39) missense probably damaging 1.00
R2225:Aggf1 UTSW 13 95,507,354 (GRCm39) missense probably damaging 0.96
R2226:Aggf1 UTSW 13 95,507,354 (GRCm39) missense probably damaging 0.96
R4405:Aggf1 UTSW 13 95,508,102 (GRCm39) missense probably benign 0.00
R4764:Aggf1 UTSW 13 95,501,221 (GRCm39) missense probably damaging 0.96
R5819:Aggf1 UTSW 13 95,488,129 (GRCm39) missense possibly damaging 0.76
R5878:Aggf1 UTSW 13 95,506,065 (GRCm39) missense probably benign 0.18
R5946:Aggf1 UTSW 13 95,508,084 (GRCm39) missense probably damaging 1.00
R6056:Aggf1 UTSW 13 95,508,123 (GRCm39) missense probably benign 0.00
R6823:Aggf1 UTSW 13 95,501,231 (GRCm39) missense probably benign 0.11
R7051:Aggf1 UTSW 13 95,488,125 (GRCm39) missense possibly damaging 0.94
R7638:Aggf1 UTSW 13 95,492,921 (GRCm39) nonsense probably null
R7682:Aggf1 UTSW 13 95,504,934 (GRCm39) missense probably benign 0.41
R7903:Aggf1 UTSW 13 95,492,966 (GRCm39) missense probably damaging 1.00
R9387:Aggf1 UTSW 13 95,507,461 (GRCm39) missense probably damaging 1.00
R9502:Aggf1 UTSW 13 95,507,450 (GRCm39) missense probably benign 0.00
RF014:Aggf1 UTSW 13 95,507,276 (GRCm39) missense possibly damaging 0.87
X0010:Aggf1 UTSW 13 95,501,485 (GRCm39) missense probably benign
X0064:Aggf1 UTSW 13 95,499,378 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06