Incidental Mutation 'R4812:Flt1'
ID 406153
Institutional Source Beutler Lab
Gene Symbol Flt1
Ensembl Gene ENSMUSG00000029648
Gene Name FMS-like tyrosine kinase 1
Synonyms VEGFR-1, VEGFR1, vascular endothelial growth factor receptor-1, Flt-1, sFlt1
MMRRC Submission 042431-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4812 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 147498414-147662821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 147620749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 132 (A132S)
Ref Sequence ENSEMBL: ENSMUSP00000106158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031653] [ENSMUST00000110529]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031652
SMART Domains Protein: ENSMUSP00000031652
Gene: ENSMUSG00000029648

DomainStartEndE-ValueType
IG 38 130 1.74e-3 SMART
IG 144 225 1.49e-2 SMART
IG 238 330 2.23e-10 SMART
IG 345 426 2.43e-2 SMART
Pfam:Ig_2 434 511 9.6e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031653
AA Change: A132S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: A132S

DomainStartEndE-ValueType
IG 38 130 1.74e-3 SMART
IG 144 225 1.49e-2 SMART
IG 238 330 2.23e-10 SMART
IG 345 426 2.43e-2 SMART
IG 440 554 2.6e-2 SMART
IGc2 569 644 1.76e-8 SMART
IGc2 674 739 6.29e-19 SMART
low complexity region 769 786 N/A INTRINSIC
TyrKc 828 1154 9.54e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110529
AA Change: A132S

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106158
Gene: ENSMUSG00000029648
AA Change: A132S

DomainStartEndE-ValueType
IG 38 130 1.74e-3 SMART
IG 144 225 1.49e-2 SMART
IG 238 330 2.23e-10 SMART
IG 345 426 2.43e-2 SMART
IG 440 554 2.6e-2 SMART
IGc2 569 644 1.76e-8 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 93% (124/133)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit an excess of hemangioblasts resulting in an overgrowth of endothelial cells, abnormalities of vascular channels and blood islands, and lethality at the mid-somite developmental stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 128 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017G19Rik C T 3: 40,575,633 (GRCm39) noncoding transcript Het
Abca5 T C 11: 110,192,647 (GRCm39) D681G probably damaging Het
Actl11 T C 9: 107,808,329 (GRCm39) V884A probably damaging Het
Akr1c14 G A 13: 4,129,165 (GRCm39) V187M probably damaging Het
Apbb1 A T 7: 105,223,232 (GRCm39) N126K probably damaging Het
Bmt2 G T 6: 13,677,799 (GRCm39) R12S unknown Het
Btrc G A 19: 45,411,603 (GRCm39) C9Y possibly damaging Het
C5ar1 A C 7: 15,982,258 (GRCm39) probably null Het
C8a C T 4: 104,719,788 (GRCm39) probably null Het
Cabin1 A G 10: 75,482,428 (GRCm39) S2172P possibly damaging Het
Calcoco2 T C 11: 95,998,276 (GRCm39) D49G probably damaging Het
Camta1 C T 4: 151,215,999 (GRCm39) D974N probably null Het
Car6 T C 4: 150,281,872 (GRCm39) E47G probably damaging Het
Ccnd3 G A 17: 47,908,505 (GRCm39) probably null Het
Celf5 A T 10: 81,306,573 (GRCm39) V30E probably damaging Het
Cfap251 G A 5: 123,425,368 (GRCm39) V776I probably benign Het
Cfap46 T A 7: 139,215,916 (GRCm39) D1513V probably damaging Het
Cinp T C 12: 110,846,174 (GRCm39) Y84C probably damaging Het
Cnih1 A G 14: 47,014,001 (GRCm39) I154T probably damaging Het
Col15a1 C T 4: 47,262,479 (GRCm39) P511L possibly damaging Het
Col4a4 C T 1: 82,439,874 (GRCm39) V1364M unknown Het
Cplane1 T G 15: 8,230,607 (GRCm39) probably null Het
Crtam A G 9: 40,895,621 (GRCm39) L38P probably damaging Het
Ctnna1 T A 18: 35,372,530 (GRCm39) V495D probably damaging Het
Cubn T C 2: 13,463,887 (GRCm39) Y606C probably damaging Het
Cyp4f16 C T 17: 32,765,652 (GRCm39) A345V probably null Het
Dctn1 A T 6: 83,166,919 (GRCm39) M160L probably benign Het
Dip2c T A 13: 9,687,166 (GRCm39) C366* probably null Het
Dnajc2 G A 5: 21,968,484 (GRCm39) S401L probably benign Het
Dnmt3l A G 10: 77,893,128 (GRCm39) I302V probably benign Het
Dvl2 T C 11: 69,902,119 (GRCm39) probably benign Het
Edn1 T G 13: 42,457,116 (GRCm39) S50A probably benign Het
Efhc1 A T 1: 21,060,871 (GRCm39) R636W probably damaging Het
Epg5 T A 18: 78,022,399 (GRCm39) H1047Q probably benign Het
Etv1 T G 12: 38,911,287 (GRCm39) V371G probably damaging Het
Fap T A 2: 62,349,365 (GRCm39) I475F probably damaging Het
Fbxw15 T C 9: 109,388,990 (GRCm39) I140V probably benign Het
Fer A G 17: 64,241,292 (GRCm39) T311A probably benign Het
Fh1 A G 1: 175,429,025 (GRCm39) W497R probably damaging Het
Flot2 T A 11: 77,944,191 (GRCm39) L45Q probably damaging Het
Fmnl1 T C 11: 103,089,390 (GRCm39) probably benign Het
Garin5b G A 7: 4,762,071 (GRCm39) T295M probably damaging Het
Ggta1 C T 2: 35,292,735 (GRCm39) V203I probably benign Het
Gm19345 C T 7: 19,591,798 (GRCm39) V204M probably damaging Het
Gm4204 T A 1: 135,160,227 (GRCm39) noncoding transcript Het
Gm6124 C G 7: 38,872,319 (GRCm39) noncoding transcript Het
Gprin3 T A 6: 59,330,350 (GRCm39) K652N possibly damaging Het
Gucy1b2 T C 14: 62,653,346 (GRCm39) probably null Het
Hace1 C A 10: 45,562,699 (GRCm39) A738E probably benign Het
Hectd1 C T 12: 51,874,134 (GRCm39) probably null Het
Hnrnpdl T C 5: 100,184,331 (GRCm39) probably benign Het
Hyou1 T C 9: 44,298,418 (GRCm39) probably benign Het
Ifi44l G A 3: 151,465,336 (GRCm39) A138V probably benign Het
Igkv16-104 A T 6: 68,402,829 (GRCm39) I41F possibly damaging Het
Ints7 T A 1: 191,326,542 (GRCm39) D171E possibly damaging Het
Irag2 G A 6: 145,093,737 (GRCm39) G120S probably damaging Het
Kmt2a A T 9: 44,742,651 (GRCm39) probably benign Het
Kmt2e T C 5: 23,707,585 (GRCm39) V1716A possibly damaging Het
Krtap5-1 G A 7: 141,850,628 (GRCm39) S60F unknown Het
Lama4 G A 10: 38,948,765 (GRCm39) V843I probably benign Het
Laptm5 A G 4: 130,640,749 (GRCm39) probably null Het
Lbhd1 G A 19: 8,866,538 (GRCm39) A193T probably damaging Het
Lce3f C T 3: 92,900,247 (GRCm39) P23S unknown Het
Mecom A C 3: 30,194,517 (GRCm39) M1R probably null Het
Mindy4 A C 6: 55,256,088 (GRCm39) T531P possibly damaging Het
Mrpl3 A G 9: 104,951,023 (GRCm39) N263S probably damaging Het
Myo18b T C 5: 112,957,584 (GRCm39) K1460E possibly damaging Het
Myof A G 19: 37,905,007 (GRCm39) Y852H probably damaging Het
Nefl T G 14: 68,321,734 (GRCm39) V108G probably damaging Het
Nid1 T A 13: 13,681,053 (GRCm39) L1061* probably null Het
Nim1k T A 13: 120,173,920 (GRCm39) M325L probably benign Het
Nlrp1c-ps T C 11: 71,143,131 (GRCm39) noncoding transcript Het
Npsr1 C T 9: 24,201,252 (GRCm39) T59I probably damaging Het
Nr2c1 A G 10: 94,024,114 (GRCm39) T440A probably benign Het
Nup160 C T 2: 90,556,035 (GRCm39) T1245I probably damaging Het
Nup88 T A 11: 70,856,552 (GRCm39) T194S probably damaging Het
Oas3 A G 5: 120,899,212 (GRCm39) probably benign Het
Odad2 T G 18: 7,288,634 (GRCm39) T78P possibly damaging Het
Opn1sw A T 6: 29,378,038 (GRCm39) M252K probably damaging Het
Oprm1 T G 10: 6,782,698 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,406,087 (GRCm39) I220V probably benign Het
Or2y1g T A 11: 49,171,284 (GRCm39) I103K possibly damaging Het
Or4x13 T A 2: 90,231,440 (GRCm39) M145K probably benign Het
Pcdha2 T A 18: 37,072,861 (GRCm39) V164E probably benign Het
Pclo A G 5: 14,590,039 (GRCm39) T780A unknown Het
Pcnx2 T A 8: 126,592,678 (GRCm39) Q762L probably benign Het
Pcyt2 A T 11: 120,505,251 (GRCm39) probably benign Het
Pdpr A G 8: 111,843,349 (GRCm39) N294D probably benign Het
Perm1 T A 4: 156,303,193 (GRCm39) V579E possibly damaging Het
Pgk2 T A 17: 40,518,281 (GRCm39) K382N possibly damaging Het
Plcb4 T A 2: 135,849,801 (GRCm39) L205Q probably damaging Het
Plekha3 C T 2: 76,516,975 (GRCm39) T109I probably damaging Het
Pnn T A 12: 59,118,404 (GRCm39) V329E possibly damaging Het
Ptpn13 A G 5: 103,671,481 (GRCm39) I469M probably benign Het
Rapgef3 A G 15: 97,651,684 (GRCm39) V603A probably benign Het
Rbms1 C T 2: 60,623,113 (GRCm39) V75I possibly damaging Het
Rbp3 T A 14: 33,676,731 (GRCm39) D226E probably damaging Het
Robo2 A T 16: 73,713,176 (GRCm39) N1189K probably benign Het
Rragd A G 4: 33,018,766 (GRCm39) T270A probably benign Het
Rxfp1 T A 3: 79,557,889 (GRCm39) T530S probably benign Het
Ryr3 T C 2: 112,742,581 (GRCm39) E479G probably damaging Het
Scd2 A T 19: 44,289,841 (GRCm39) I279F probably damaging Het
Sh3d19 A T 3: 86,031,074 (GRCm39) D746V probably damaging Het
Shroom4 A G X: 6,536,180 (GRCm39) K1133E probably benign Het
Sirpb1c A G 3: 15,887,386 (GRCm39) V151A probably damaging Het
Slc26a2 A T 18: 61,335,093 (GRCm39) I120N probably damaging Het
Slco1a1 A G 6: 141,864,319 (GRCm39) S494P probably damaging Het
Srebf2 A T 15: 82,088,026 (GRCm39) T1061S probably damaging Het
Sspo T C 6: 48,467,444 (GRCm39) L4202P probably benign Het
Synj2 G A 17: 6,060,939 (GRCm39) G215E probably damaging Het
Tbc1d19 T C 5: 53,967,148 (GRCm39) V16A probably damaging Het
Tektl1 T C 10: 78,585,050 (GRCm39) H262R probably benign Het
Tiparp T C 3: 65,460,190 (GRCm39) I495T possibly damaging Het
Tipin A G 9: 64,211,694 (GRCm39) H260R probably benign Het
Tle1 A G 4: 72,063,591 (GRCm39) S221P probably damaging Het
Tmem94 T A 11: 115,686,938 (GRCm39) L1101* probably null Het
Trim43b C T 9: 88,973,533 (GRCm39) D67N probably benign Het
Ubn2 T A 6: 38,440,661 (GRCm39) C178S probably benign Het
Vmn1r54 T C 6: 90,246,307 (GRCm39) F74L probably benign Het
Vmn2r24 A G 6: 123,756,144 (GRCm39) H72R probably benign Het
Wnk1 C T 6: 119,929,732 (GRCm39) V850I probably benign Het
Zan T G 5: 137,454,547 (GRCm39) Y1419S unknown Het
Zbtb14 T A 17: 69,694,577 (GRCm39) Y92N probably damaging Het
Zfand5 A G 19: 21,255,101 (GRCm39) K116E probably benign Het
Zfhx3 A G 8: 109,674,593 (GRCm39) E1881G possibly damaging Het
Zfp280b A G 10: 75,874,924 (GRCm39) K268E probably benign Het
Zfp541 A G 7: 15,813,035 (GRCm39) I563V probably benign Het
Zfy2 T A Y: 2,106,334 (GRCm39) I767L probably benign Het
Other mutations in Flt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Flt1 APN 5 147,517,110 (GRCm39) critical splice donor site probably null
IGL00469:Flt1 APN 5 147,540,415 (GRCm39) missense probably damaging 0.99
IGL00897:Flt1 APN 5 147,526,664 (GRCm39) missense probably benign 0.25
IGL01111:Flt1 APN 5 147,515,146 (GRCm39) missense probably damaging 1.00
IGL01154:Flt1 APN 5 147,512,966 (GRCm39) missense possibly damaging 0.63
IGL01744:Flt1 APN 5 147,508,271 (GRCm39) missense probably benign 0.01
IGL01973:Flt1 APN 5 147,620,699 (GRCm39) missense probably benign 0.01
IGL02079:Flt1 APN 5 147,505,641 (GRCm39) splice site probably benign
IGL02143:Flt1 APN 5 147,515,246 (GRCm39) missense probably benign 0.00
IGL02156:Flt1 APN 5 147,618,551 (GRCm39) missense probably damaging 0.99
IGL02345:Flt1 APN 5 147,519,436 (GRCm39) missense probably benign 0.20
IGL02548:Flt1 APN 5 147,576,058 (GRCm39) missense probably benign 0.00
IGL02631:Flt1 APN 5 147,610,384 (GRCm39) nonsense probably null
IGL02686:Flt1 APN 5 147,525,412 (GRCm39) missense probably damaging 1.00
IGL02938:Flt1 APN 5 147,615,109 (GRCm39) missense possibly damaging 0.47
IGL03057:Flt1 APN 5 147,618,734 (GRCm39) nonsense probably null
IGL03196:Flt1 APN 5 147,551,937 (GRCm39) critical splice donor site probably null
IGL03205:Flt1 APN 5 147,636,631 (GRCm39) missense probably benign 0.00
IGL03255:Flt1 APN 5 147,525,331 (GRCm39) splice site probably benign
flywheels UTSW 5 147,536,456 (GRCm39) missense probably damaging 1.00
BB008:Flt1 UTSW 5 147,525,382 (GRCm39) missense probably damaging 1.00
BB018:Flt1 UTSW 5 147,525,382 (GRCm39) missense probably damaging 1.00
IGL02837:Flt1 UTSW 5 147,591,980 (GRCm39) missense probably benign 0.32
PIT4402001:Flt1 UTSW 5 147,615,049 (GRCm39) missense probably damaging 1.00
R0013:Flt1 UTSW 5 147,507,824 (GRCm39) splice site probably benign
R0380:Flt1 UTSW 5 147,525,382 (GRCm39) missense probably damaging 1.00
R0448:Flt1 UTSW 5 147,503,204 (GRCm39) splice site probably benign
R0789:Flt1 UTSW 5 147,576,293 (GRCm39) missense probably damaging 1.00
R1005:Flt1 UTSW 5 147,618,695 (GRCm39) missense probably damaging 0.99
R1241:Flt1 UTSW 5 147,536,456 (GRCm39) missense probably damaging 1.00
R1302:Flt1 UTSW 5 147,501,050 (GRCm39) missense possibly damaging 0.93
R1411:Flt1 UTSW 5 147,517,126 (GRCm39) missense probably damaging 1.00
R1615:Flt1 UTSW 5 147,576,098 (GRCm39) missense probably damaging 1.00
R1634:Flt1 UTSW 5 147,613,240 (GRCm39) missense probably damaging 1.00
R1749:Flt1 UTSW 5 147,591,929 (GRCm39) missense probably benign 0.00
R1768:Flt1 UTSW 5 147,609,519 (GRCm39) missense probably damaging 1.00
R1972:Flt1 UTSW 5 147,591,903 (GRCm39) splice site probably benign
R2074:Flt1 UTSW 5 147,536,416 (GRCm39) missense possibly damaging 0.82
R2081:Flt1 UTSW 5 147,576,232 (GRCm39) missense probably damaging 1.00
R2864:Flt1 UTSW 5 147,531,431 (GRCm39) missense possibly damaging 0.68
R2865:Flt1 UTSW 5 147,531,431 (GRCm39) missense possibly damaging 0.68
R3740:Flt1 UTSW 5 147,536,403 (GRCm39) missense probably damaging 1.00
R3820:Flt1 UTSW 5 147,636,827 (GRCm39) splice site probably benign
R4089:Flt1 UTSW 5 147,501,051 (GRCm39) missense probably benign 0.03
R4299:Flt1 UTSW 5 147,620,717 (GRCm39) missense probably benign 0.00
R4570:Flt1 UTSW 5 147,531,423 (GRCm39) missense probably damaging 1.00
R4853:Flt1 UTSW 5 147,620,749 (GRCm39) missense probably benign 0.30
R4865:Flt1 UTSW 5 147,620,749 (GRCm39) missense probably benign 0.30
R4900:Flt1 UTSW 5 147,620,749 (GRCm39) missense probably benign 0.30
R4906:Flt1 UTSW 5 147,620,749 (GRCm39) missense probably benign 0.30
R4907:Flt1 UTSW 5 147,620,749 (GRCm39) missense probably benign 0.30
R4909:Flt1 UTSW 5 147,620,749 (GRCm39) missense probably benign 0.30
R5072:Flt1 UTSW 5 147,620,749 (GRCm39) missense probably benign 0.30
R5073:Flt1 UTSW 5 147,620,749 (GRCm39) missense probably benign 0.30
R5074:Flt1 UTSW 5 147,620,749 (GRCm39) missense probably benign 0.30
R5218:Flt1 UTSW 5 147,618,738 (GRCm39) missense probably damaging 1.00
R5547:Flt1 UTSW 5 147,591,948 (GRCm39) missense probably damaging 1.00
R5731:Flt1 UTSW 5 147,614,962 (GRCm39) missense probably benign 0.16
R5732:Flt1 UTSW 5 147,571,293 (GRCm39) nonsense probably null
R5804:Flt1 UTSW 5 147,517,247 (GRCm39) splice site probably null
R6107:Flt1 UTSW 5 147,540,403 (GRCm39) missense probably benign 0.15
R6440:Flt1 UTSW 5 147,501,115 (GRCm39) missense possibly damaging 0.79
R6453:Flt1 UTSW 5 147,620,751 (GRCm39) missense possibly damaging 0.80
R6539:Flt1 UTSW 5 147,515,186 (GRCm39) missense probably benign 0.27
R7068:Flt1 UTSW 5 147,610,444 (GRCm39) missense probably damaging 1.00
R7112:Flt1 UTSW 5 147,540,379 (GRCm39) missense probably damaging 1.00
R7195:Flt1 UTSW 5 147,540,386 (GRCm39) missense probably damaging 1.00
R7255:Flt1 UTSW 5 147,517,216 (GRCm39) missense probably damaging 1.00
R7347:Flt1 UTSW 5 147,517,191 (GRCm39) missense probably damaging 1.00
R7469:Flt1 UTSW 5 147,540,379 (GRCm39) missense probably damaging 1.00
R7473:Flt1 UTSW 5 147,531,405 (GRCm39) missense probably damaging 1.00
R7663:Flt1 UTSW 5 147,591,930 (GRCm39) missense probably benign
R7688:Flt1 UTSW 5 147,613,135 (GRCm39) missense probably benign
R7729:Flt1 UTSW 5 147,637,177 (GRCm39) missense probably benign 0.00
R7931:Flt1 UTSW 5 147,525,382 (GRCm39) missense probably damaging 1.00
R8051:Flt1 UTSW 5 147,519,501 (GRCm39) missense probably benign 0.02
R8275:Flt1 UTSW 5 147,614,957 (GRCm39) missense probably damaging 0.99
R8434:Flt1 UTSW 5 147,576,253 (GRCm39) missense probably damaging 0.97
R8442:Flt1 UTSW 5 147,512,983 (GRCm39) missense probably damaging 1.00
R8756:Flt1 UTSW 5 147,576,224 (GRCm39) missense probably benign 0.07
R8855:Flt1 UTSW 5 147,618,460 (GRCm39) missense probably damaging 1.00
R8855:Flt1 UTSW 5 147,507,682 (GRCm39) missense probably benign 0.00
R9165:Flt1 UTSW 5 147,552,047 (GRCm39) missense probably damaging 0.99
R9240:Flt1 UTSW 5 147,618,676 (GRCm39) missense probably benign
R9439:Flt1 UTSW 5 147,515,207 (GRCm39) missense probably damaging 1.00
R9658:Flt1 UTSW 5 147,525,377 (GRCm39) missense probably damaging 0.97
X0064:Flt1 UTSW 5 147,610,423 (GRCm39) missense probably damaging 1.00
Z1088:Flt1 UTSW 5 147,618,459 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- ACGAGTCTACTGAGAAGCCC -3'
(R):5'- AGAAACTACACTGCTTTGGGG -3'

Sequencing Primer
(F):5'- GCCCAGAGAGAAAGTTTTTCC -3'
(R):5'- ACTACACTGCTTTGGGGGACAG -3'
Posted On 2016-08-01