Incidental Mutation 'R4909:Flt1'
ID 434647
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 042511-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4909 (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: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (101/104)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik A T 12: 20,865,089 (GRCm39) noncoding transcript Het
Aars1 G A 8: 111,781,715 (GRCm39) G929D probably damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Actn4 A T 7: 28,598,082 (GRCm39) L506Q probably damaging Het
Adam26a A T 8: 44,023,475 (GRCm39) F5Y probably benign Het
Adamts5 G A 16: 85,696,954 (GRCm39) Q68* probably null Het
Adcy9 A G 16: 4,116,618 (GRCm39) I871T probably benign Het
Ak5 A T 3: 152,361,514 (GRCm39) L136H probably damaging Het
Ap1g2 A G 14: 55,342,483 (GRCm39) probably null Het
Ap2a1 G A 7: 44,555,805 (GRCm39) T355M probably damaging Het
Ap3s2 T C 7: 79,564,989 (GRCm39) D60G possibly damaging Het
Apold1 G A 6: 134,960,558 (GRCm39) R4Q probably benign Het
Atp13a5 G T 16: 29,152,846 (GRCm39) Q207K possibly damaging Het
BC035947 A C 1: 78,474,666 (GRCm39) I622S probably damaging Het
Bmper G T 9: 23,289,021 (GRCm39) V339F probably benign Het
Btbd8 C T 5: 107,655,176 (GRCm39) Q992* probably null Het
C1ra A G 6: 124,499,293 (GRCm39) D493G probably damaging Het
C3 C T 17: 57,533,830 (GRCm39) probably null Het
Cabp4 T A 19: 4,187,120 (GRCm39) I209F possibly damaging Het
Cacna1s A T 1: 136,007,342 (GRCm39) H453L probably damaging Het
Camk2g A G 14: 20,842,652 (GRCm39) V32A probably benign Het
Ccdc175 G A 12: 72,206,527 (GRCm39) R240C probably damaging Het
Cdk13 C T 13: 17,946,988 (GRCm39) S590N possibly damaging Het
Cfap45 A T 1: 172,357,443 (GRCm39) T24S probably benign Het
Clca3a1 T G 3: 144,730,324 (GRCm39) K174Q probably damaging Het
Col1a2 G A 6: 4,529,058 (GRCm39) probably benign Het
Colgalt1 A T 8: 72,073,277 (GRCm39) I323F possibly damaging Het
Cpeb3 A T 19: 37,152,059 (GRCm39) S106T probably damaging Het
Cpeb3 T C 19: 37,151,633 (GRCm39) S248G possibly damaging Het
Ctcfl C T 2: 172,937,191 (GRCm39) A576T probably benign Het
Cyp4f16 T G 17: 32,769,295 (GRCm39) V395G possibly damaging Het
Dchs1 C T 7: 105,415,462 (GRCm39) G605S probably damaging Het
Egflam A T 15: 7,249,110 (GRCm39) F903I probably damaging Het
Eif5a G A 11: 69,808,311 (GRCm39) A62V possibly damaging Het
Fam217a A G 13: 35,094,389 (GRCm39) S609P probably damaging Het
Fhad1 T A 4: 141,712,822 (GRCm39) I206F probably benign Het
Fras1 T A 5: 96,856,617 (GRCm39) M2000K probably benign Het
Frmd5 C T 2: 121,422,134 (GRCm39) probably null Het
Gle1 T C 2: 29,826,092 (GRCm39) L57P probably benign Het
Glrx3 C A 7: 137,046,765 (GRCm39) N52K probably damaging Het
Grin3b A G 10: 79,812,938 (GRCm39) *1004W probably null Het
Hectd4 T A 5: 121,401,954 (GRCm39) F347L probably benign Het
Htra1 G A 7: 130,586,802 (GRCm39) V462I probably benign Het
Itga11 A G 9: 62,662,581 (GRCm39) Y518C probably damaging Het
Krtap15-1 T C 16: 88,626,253 (GRCm39) F88L probably benign Het
Ktn1 A T 14: 47,943,917 (GRCm39) R866W probably damaging Het
Lamb1 G A 12: 31,338,280 (GRCm39) R483H probably damaging Het
Megf6 C T 4: 154,349,848 (GRCm39) R983C probably damaging Het
Mybpc3 T A 2: 90,965,157 (GRCm39) D1075E probably benign Het
Myo7b A T 18: 32,097,489 (GRCm39) N1792K probably benign Het
Nabp2 A T 10: 128,237,556 (GRCm39) probably benign Het
Neil3 A G 8: 54,091,928 (GRCm39) C7R probably damaging Het
Nxpe2 T A 9: 48,230,897 (GRCm39) I491F possibly damaging Het
Obscn A G 11: 58,952,291 (GRCm39) V4292A possibly damaging Het
Ogfod3 A G 11: 121,088,318 (GRCm39) S139P probably damaging Het
Oog2 T C 4: 143,921,669 (GRCm39) I211T possibly damaging Het
Oosp1 T C 19: 11,666,080 (GRCm39) D70G probably benign Het
Or10j2 A T 1: 173,098,546 (GRCm39) D268V probably damaging Het
Or1ab2 A G 8: 72,863,425 (GRCm39) N5S probably damaging Het
Or56a42-ps1 C A 7: 104,777,435 (GRCm39) V70L probably benign Het
Or6c210 A G 10: 129,496,589 (GRCm39) I305V probably benign Het
Padi3 T C 4: 140,522,937 (GRCm39) D345G probably damaging Het
Pcyt2 A G 11: 120,506,246 (GRCm39) F71L probably benign Het
Pi4k2b T C 5: 52,911,971 (GRCm39) probably benign Het
Pigr A C 1: 130,776,195 (GRCm39) T577P possibly damaging Het
Pirb G A 7: 3,722,361 (GRCm39) Q161* probably null Het
Pnlip A G 19: 58,664,672 (GRCm39) E204G possibly damaging Het
Pop7 G T 5: 137,500,161 (GRCm39) D57E probably benign Het
Ppfia4 A T 1: 134,260,239 (GRCm39) I8N probably damaging Het
Pprc1 A G 19: 46,052,758 (GRCm39) T759A probably damaging Het
Prom1 T C 5: 44,202,894 (GRCm39) N213S probably benign Het
Prop1 GCTTCACT GCTTCACTTCACT 11: 50,842,863 (GRCm39) probably null Het
Prop1 A T 11: 50,842,872 (GRCm39) L105H probably damaging Het
Pwp2 A T 10: 78,018,328 (GRCm39) M121K possibly damaging Het
Rap1gds1 A T 3: 138,689,509 (GRCm39) M161K possibly damaging Het
Rps6kb2 T A 19: 4,207,002 (GRCm39) probably benign Het
Rxfp1 A G 3: 79,552,109 (GRCm39) S731P probably benign Het
Scfd1 T C 12: 51,437,195 (GRCm39) V137A probably benign Het
Slc6a15 G A 10: 103,240,275 (GRCm39) D333N probably damaging Het
Sqor T C 2: 122,627,101 (GRCm39) V74A possibly damaging Het
Stil T A 4: 114,881,422 (GRCm39) Y655* probably null Het
Syt14 A T 1: 192,581,167 (GRCm39) I468K probably damaging Het
Tbc1d31 T C 15: 57,825,661 (GRCm39) probably null Het
Tspyl5 A T 15: 33,686,995 (GRCm39) S317T probably damaging Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Ttf2 T C 3: 100,861,631 (GRCm39) T620A probably damaging Het
Usp32 G A 11: 84,946,598 (GRCm39) Q269* probably null Het
Vsig10 T A 5: 117,476,308 (GRCm39) V254E probably benign Het
Wdr6 C T 9: 108,450,187 (GRCm39) A1114T probably benign Het
Zfp280d A G 9: 72,238,714 (GRCm39) S63G probably damaging Het
Zfp607b A G 7: 27,403,221 (GRCm39) D559G probably benign Het
Zfp934 T C 13: 62,665,768 (GRCm39) H291R probably damaging 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
R4812:Flt1 UTSW 5 147,620,749 (GRCm39) missense probably benign 0.30
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
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 2016-10-20