Incidental Mutation 'R0334:Aggf1'
ID 26155
Institutional Source Beutler Lab
Gene Symbol Aggf1
Ensembl Gene ENSMUSG00000021681
Gene Name angiogenic factor with G patch and FHA domains 1
Synonyms 2310029P06Rik, 2010009L17Rik, VG5Q
MMRRC Submission 038543-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.490) question?
Stock # R0334 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 95487191-95511860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95508105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 87 (N87S)
Ref Sequence ENSEMBL: ENSMUSP00000022189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022189]
AlphaFold Q7TN31
Predicted Effect probably benign
Transcript: ENSMUST00000022189
AA Change: N87S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022189
Gene: ENSMUSG00000021681
AA Change: N87S

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
Meta Mutation Damage Score 0.0741 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (68/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 T C 11: 83,258,700 (GRCm39) probably benign Het
Arfgef3 A G 10: 18,468,029 (GRCm39) Y1724H probably damaging Het
Arhgef10l G A 4: 140,311,237 (GRCm39) Q243* probably null Het
Atp8a2 A T 14: 59,928,961 (GRCm39) F1031Y probably damaging Het
Bmp8b A G 4: 123,008,553 (GRCm39) probably null Het
Brinp2 G T 1: 158,123,155 (GRCm39) T37K probably benign Het
Bsph1 T A 7: 13,184,864 (GRCm39) L9* probably null Het
C6 T G 15: 4,784,849 (GRCm39) N238K probably benign Het
Cbs T C 17: 31,838,130 (GRCm39) D373G probably damaging Het
Clec4a3 T C 6: 122,946,329 (GRCm39) F191S possibly damaging Het
Cpz A G 5: 35,661,025 (GRCm39) V530A probably damaging Het
Ctsc G T 7: 87,927,550 (GRCm39) S47I possibly damaging Het
Cyp7b1 T G 3: 18,157,960 (GRCm39) Y53S probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Defb4 T C 8: 19,251,220 (GRCm39) I29T probably benign Het
Disc1 A T 8: 125,987,836 (GRCm39) probably null Het
Dnah2 A G 11: 69,327,662 (GRCm39) M3429T probably damaging Het
Dnah7a A T 1: 53,472,213 (GRCm39) I3518N possibly damaging Het
Dnah8 A T 17: 31,090,325 (GRCm39) H4609L probably damaging Het
Evi5 C A 5: 107,968,401 (GRCm39) C182F probably damaging Het
Fam149b G A 14: 20,413,492 (GRCm39) R237H probably damaging Het
Fut8 T A 12: 77,440,536 (GRCm39) D174E possibly damaging Het
Ghr T C 15: 3,370,580 (GRCm39) probably benign Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gpr176 T C 2: 118,110,189 (GRCm39) S357G probably benign Het
Grwd1 A T 7: 45,476,601 (GRCm39) probably null Het
H2-T24 A G 17: 36,325,772 (GRCm39) V273A possibly damaging Het
Hdac4 A C 1: 91,883,760 (GRCm39) probably benign Het
Herc3 A G 6: 58,895,802 (GRCm39) T1017A probably damaging Het
Hsd11b1 T C 1: 192,924,476 (GRCm39) probably benign Het
Igsf23 T C 7: 19,675,678 (GRCm39) S143G probably benign Het
Kbtbd12 T A 6: 88,594,888 (GRCm39) Y314F probably damaging Het
Kcnmb2 A G 3: 32,252,508 (GRCm39) probably null Het
Kdm5b A G 1: 134,532,260 (GRCm39) I479M probably damaging Het
Kidins220 A G 12: 25,058,068 (GRCm39) T600A probably damaging Het
Mrgprb2 A C 7: 48,202,077 (GRCm39) I216S probably damaging Het
Muc21 A G 17: 35,933,614 (GRCm39) probably benign Het
Myo1g A G 11: 6,461,084 (GRCm39) probably benign Het
Nrxn3 T C 12: 89,780,412 (GRCm39) probably null Het
Or2ag2 A G 7: 106,485,622 (GRCm39) V134A probably benign Het
Or8b54 A T 9: 38,686,535 (GRCm39) probably null Het
Or8g26 A G 9: 39,095,980 (GRCm39) I169V probably benign Het
Pdia5 A T 16: 35,284,760 (GRCm39) S66T possibly damaging Het
Plec T C 15: 76,062,206 (GRCm39) E2604G probably damaging Het
Plekha6 G T 1: 133,209,918 (GRCm39) A654S probably benign Het
Pnpla2 G A 7: 141,039,433 (GRCm39) probably null Het
Pramel19 T C 4: 101,798,781 (GRCm39) F251L probably benign Het
Prb1c T A 6: 132,341,021 (GRCm39) Q17L unknown Het
Prkdc A G 16: 15,554,663 (GRCm39) D2128G probably benign Het
Rabggta A T 14: 55,958,268 (GRCm39) L131Q probably damaging Het
Rbks A T 5: 31,781,863 (GRCm39) Y312* probably null Het
Rnf139 A G 15: 58,771,322 (GRCm39) Y449C probably damaging Het
Sanbr A G 11: 23,567,129 (GRCm39) probably benign Het
Sbno1 A G 5: 124,524,931 (GRCm39) V1058A possibly damaging Het
Sema3a A T 5: 13,607,268 (GRCm39) N321I probably damaging Het
Slit3 T A 11: 35,469,928 (GRCm39) V310E probably damaging Het
Slitrk5 T C 14: 111,918,256 (GRCm39) S627P probably benign Het
Stat2 T A 10: 128,113,736 (GRCm39) F172I probably damaging Het
Tchh C A 3: 93,352,923 (GRCm39) R788S unknown Het
Tnks T A 8: 35,320,413 (GRCm39) K753* probably null Het
Trank1 T A 9: 111,194,421 (GRCm39) V815D probably benign Het
Trank1 T A 9: 111,222,008 (GRCm39) I2915N probably damaging Het
Trpc6 T C 9: 8,610,344 (GRCm39) S271P probably damaging Het
Trpm5 T C 7: 142,640,613 (GRCm39) Q213R probably benign Het
Ulk3 C T 9: 57,501,510 (GRCm39) probably benign Het
Usp31 T C 7: 121,258,185 (GRCm39) D694G probably damaging Het
Wnt3a A G 11: 59,147,144 (GRCm39) S181P probably damaging Het
Yipf3 T C 17: 46,559,238 (GRCm39) F22S possibly damaging Het
Zbtb40 A T 4: 136,713,867 (GRCm39) H1094Q 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCCACTGAAACCCTGAGTAGTACG -3'
(R):5'- AGCCAGATGCTTTGGGTACAGGTC -3'

Sequencing Primer
(F):5'- tgttccagacgcctttacc -3'
(R):5'- GGTACAGGTCTAAAAGTTCTACCAAG -3'
Posted On 2013-04-16