Incidental Mutation 'IGL01811:Aggf1'
ID 154275
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: 0.499) question?
Stock # IGL01811
Quality Score
Status
Chromosome 13
Chromosomal Location 95487191-95511860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95488080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 689 (T689I)
Ref Sequence ENSEMBL: ENSMUSP00000022189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022189]
AlphaFold Q7TN31
Predicted Effect probably benign
Transcript: ENSMUST00000022189
AA Change: T689I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000022189
Gene: ENSMUSG00000021681
AA Change: T689I

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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1m2 A G 9: 21,210,600 (GRCm39) V343A probably benign Het
Ccbe1 A G 18: 66,199,798 (GRCm39) probably null Het
Cd1d1 T C 3: 86,903,895 (GRCm39) I204V possibly damaging Het
Cpeb3 G A 19: 37,022,008 (GRCm39) R613C probably damaging Het
Dock9 A T 14: 121,796,440 (GRCm39) F1821I probably damaging Het
Dst A T 1: 34,203,173 (GRCm39) Q694L probably damaging Het
Kansl1l A G 1: 66,762,462 (GRCm39) S802P probably damaging Het
Meltf T C 16: 31,707,803 (GRCm39) C397R probably damaging Het
Myo1d A T 11: 80,583,823 (GRCm39) V63D probably damaging Het
Or4c101 C T 2: 88,390,409 (GRCm39) L199F probably benign Het
Pycr1 T A 11: 120,532,092 (GRCm39) S225C probably benign Het
Tbc1d9 T A 8: 83,960,307 (GRCm39) C187S probably damaging Het
Tnfrsf21 A C 17: 43,348,504 (GRCm39) I39L probably benign Het
Tnn T C 1: 159,934,705 (GRCm39) D972G probably damaging Het
Other mutations in Aggf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Aggf1 APN 13 95,498,985 (GRCm39) missense probably damaging 1.00
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
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 2014-02-04