Incidental Mutation 'R1401:Aggf1'
ID 160158
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 039463-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.490) question?
Stock # R1401 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 95487191-95511860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95501356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 342 (V342A)
Ref Sequence ENSEMBL: ENSMUSP00000022189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022189]
AlphaFold Q7TN31
Predicted Effect probably benign
Transcript: ENSMUST00000022189
AA Change: V342A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022189
Gene: ENSMUSG00000021681
AA Change: V342A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 98% (87/89)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abcg1 T A 17: 31,333,132 (GRCm39) I625N possibly damaging Het
Adam33 C A 2: 130,893,391 (GRCm39) probably benign Het
Adgrl2 A T 3: 148,528,617 (GRCm39) I1185N probably damaging Het
Afp A T 5: 90,649,486 (GRCm39) probably benign Het
Ankrd11 A T 8: 123,619,789 (GRCm39) S1333R probably benign Het
Arhgef11 C A 3: 87,640,776 (GRCm39) S1311* probably null Het
Atp6v1g1 T C 4: 63,466,878 (GRCm39) Y47H probably benign Het
Atp8b4 T C 2: 126,165,013 (GRCm39) probably null Het
Barx2 A G 9: 31,770,327 (GRCm39) L67P probably damaging Het
Bbs7 G A 3: 36,627,706 (GRCm39) P694S probably benign Het
Btbd10 A T 7: 112,946,266 (GRCm39) V33E probably benign Het
C2 T C 17: 35,091,457 (GRCm39) T69A possibly damaging Het
C8b T G 4: 104,641,679 (GRCm39) L205R possibly damaging Het
Cct4 T G 11: 22,944,333 (GRCm39) N72K probably damaging Het
Cd300lg C A 11: 101,944,981 (GRCm39) P353H possibly damaging Het
Cdh20 A T 1: 104,875,222 (GRCm39) I335L possibly damaging Het
Cfhr2 T A 1: 139,738,757 (GRCm39) H268L probably benign Het
Chia1 T A 3: 106,036,255 (GRCm39) D278E probably benign Het
Cntn6 A G 6: 104,781,359 (GRCm39) T482A possibly damaging Het
Cst13 T A 2: 148,665,016 (GRCm39) F4I probably benign Het
Ctsc T A 7: 87,930,706 (GRCm39) V95E probably damaging Het
Ddhd1 A T 14: 45,842,508 (GRCm39) probably null Het
Dmxl2 A T 9: 54,322,712 (GRCm39) probably null Het
Dnah5 A C 15: 28,402,059 (GRCm39) T3407P probably damaging Het
Dock1 T A 7: 134,735,665 (GRCm39) Y1344* probably null Het
Eif4g3 T C 4: 137,933,395 (GRCm39) V1740A probably damaging Het
Epb41l5 A G 1: 119,506,634 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Gm10033 T C 8: 69,826,022 (GRCm39) noncoding transcript Het
Gm12790 A G 4: 101,825,396 (GRCm39) L6P probably benign Het
Gramd4 A G 15: 86,009,397 (GRCm39) D210G probably damaging Het
Hectd3 T C 4: 116,859,466 (GRCm39) S697P possibly damaging Het
Hsf4 T C 8: 106,002,235 (GRCm39) V399A probably benign Het
Hyal6 T A 6: 24,743,434 (GRCm39) C377S probably damaging Het
Myb C T 10: 21,028,844 (GRCm39) V85M probably damaging Het
Mypn A G 10: 62,988,636 (GRCm39) V463A probably damaging Het
Nav1 T A 1: 135,388,163 (GRCm39) I1144L probably benign Het
Nckap5 A G 1: 125,942,398 (GRCm39) probably benign Het
Nipbl A T 15: 8,401,657 (GRCm39) S30T probably damaging Het
Nmt1 T C 11: 102,948,307 (GRCm39) F277S probably damaging Het
Nploc4 A C 11: 120,274,115 (GRCm39) probably benign Het
Nup54 C A 5: 92,576,080 (GRCm39) R137I probably damaging Het
Or52n2b T C 7: 104,565,963 (GRCm39) Y180C probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pkd1l1 G T 11: 8,804,487 (GRCm39) Y1701* probably null Het
Plekhg6 T C 6: 125,340,072 (GRCm39) T763A probably damaging Het
Pmepa1 C T 2: 173,070,368 (GRCm39) probably null Het
Ppfia2 A G 10: 106,666,518 (GRCm39) E408G possibly damaging Het
Pramel13 G A 4: 144,121,658 (GRCm39) T122M probably benign Het
Prl8a2 G A 13: 27,537,979 (GRCm39) V218I possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Shisal2b A T 13: 105,000,113 (GRCm39) C37S probably damaging Het
Slc13a1 A T 6: 24,118,082 (GRCm39) probably null Het
Slc17a8 T A 10: 89,427,076 (GRCm39) T342S probably damaging Het
Slc30a9 A G 5: 67,510,005 (GRCm39) E519G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc39a5 G A 10: 128,233,610 (GRCm39) L296F probably damaging Het
Slco6b1 A C 1: 96,857,610 (GRCm39) noncoding transcript Het
Slco6d1 G A 1: 98,418,341 (GRCm39) G509D probably damaging Het
Spen A G 4: 141,199,132 (GRCm39) V3142A probably damaging Het
Spta1 T A 1: 174,050,250 (GRCm39) H1763Q probably damaging Het
Srcap T C 7: 127,159,124 (GRCm39) probably benign Het
Stard9 T C 2: 120,543,328 (GRCm39) probably benign Het
Stat4 A G 1: 52,111,106 (GRCm39) probably benign Het
Svbp T A 4: 119,053,225 (GRCm39) probably benign Het
Tm2d1 A T 4: 98,258,833 (GRCm39) probably benign Het
Trpv1 C A 11: 73,130,952 (GRCm39) probably null Het
Trrap A G 5: 144,794,232 (GRCm39) D3713G possibly damaging Het
Ubr1 T A 2: 120,786,125 (GRCm39) D165V probably benign Het
Utrn C A 10: 12,524,897 (GRCm39) M2195I probably benign Het
Vmn1r229 G A 17: 21,034,904 (GRCm39) V50I possibly damaging Het
Vmn1r44 A T 6: 89,870,632 (GRCm39) H126L probably benign Het
Vmn2r116 T C 17: 23,605,570 (GRCm39) probably benign Het
Vmn2r27 A C 6: 124,168,591 (GRCm39) Y846* probably null Het
Vmn2r84 T A 10: 130,227,859 (GRCm39) S126C possibly damaging Het
Xylb T A 9: 119,197,133 (GRCm39) probably benign Het
Zfp282 A T 6: 47,867,108 (GRCm39) K232* probably null Het
Zfp39 C A 11: 58,781,149 (GRCm39) V538L probably benign Het
Zfp560 T C 9: 20,263,149 (GRCm39) N76D possibly damaging Het
Zmym4 C T 4: 126,804,962 (GRCm39) V433I probably benign Het
Zscan5b A G 7: 6,233,425 (GRCm39) E83G 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
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
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'- AGGACTCGACCTCTACAAGCTGAC -3'
(R):5'- AACCAGTGGTGTGAGACGCTGATG -3'

Sequencing Primer
(F):5'- TGCCCGAGTGAATCACTTAC -3'
(R):5'- GATGTCACTGCCTTTCCTGTC -3'
Posted On 2014-03-14