Incidental Mutation 'R7255:Flt1'
ID 564193
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 045316-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7255 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 147498414-147662821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 147517216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1024 (A1024T)
Ref Sequence ENSEMBL: ENSMUSP00000031653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031653]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031653
AA Change: A1024T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: A1024T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (66/68)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 A G 19: 20,692,092 (GRCm39) S234P probably damaging Het
Arhgap28 T C 17: 68,159,999 (GRCm39) H650R probably damaging Het
Asic1 A G 15: 99,595,338 (GRCm39) D355G probably damaging Het
Atp8b1 T A 18: 64,689,939 (GRCm39) S598C probably damaging Het
Bcat1 C A 6: 144,978,511 (GRCm39) E237* probably null Het
Btbd16 A T 7: 130,387,722 (GRCm39) I114F probably benign Het
Casp2 A G 6: 42,245,841 (GRCm39) D166G probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cpsf1 G A 15: 76,481,743 (GRCm39) T1099M probably damaging Het
Crisp4 C A 1: 18,200,455 (GRCm39) A116S probably damaging Het
Cyb5r3 A G 15: 83,044,366 (GRCm39) I168T probably damaging Het
Dip2b G A 15: 100,107,508 (GRCm39) D1407N probably benign Het
Dnajc8 A G 4: 132,278,884 (GRCm39) K201R probably benign Het
Dock10 C T 1: 80,520,816 (GRCm39) probably null Het
Dop1b C A 16: 93,567,034 (GRCm39) H1272N probably damaging Het
Dsc1 C T 18: 20,230,330 (GRCm39) R325Q probably benign Het
Enpp1 A T 10: 24,521,213 (GRCm39) I838K possibly damaging Het
Fcna T G 2: 25,516,040 (GRCm39) D159A probably damaging Het
Flnc G T 6: 29,445,765 (GRCm39) G840C probably damaging Het
Galc T C 12: 98,212,514 (GRCm39) K207R probably null Het
Gbp2b T A 3: 142,313,878 (GRCm39) L386Q probably damaging Het
Gm8297 T A 14: 16,165,868 (GRCm39) N48K probably damaging Het
Gm9639 G A 10: 77,630,372 (GRCm39) P180L unknown Het
Inpp5a A G 7: 139,091,364 (GRCm39) N116S probably damaging Het
Ipo9 T C 1: 135,313,726 (GRCm39) E984G probably benign Het
Klra4 A G 6: 130,036,605 (GRCm39) F145L probably damaging Het
Lag3 A G 6: 124,887,198 (GRCm39) L123P probably benign Het
Lyz3 T C 10: 117,070,327 (GRCm39) H150R probably benign Het
Med7 T A 11: 46,331,822 (GRCm39) M139K probably damaging Het
Mfsd2a A C 4: 122,845,814 (GRCm39) L153R possibly damaging Het
Mup9 A G 4: 60,377,336 (GRCm39) V71A probably benign Het
Myo16 A T 8: 10,549,169 (GRCm39) Q927L unknown Het
Myo9b T C 8: 71,743,535 (GRCm39) Y199H probably damaging Het
Nefm A G 14: 68,353,449 (GRCm39) F406L probably benign Het
Or10ag2 T A 2: 87,249,286 (GRCm39) L296Q probably damaging Het
Or10ak11 A T 4: 118,687,149 (GRCm39) F162I probably benign Het
Pamr1 T C 2: 102,441,929 (GRCm39) F173L probably damaging Het
Pds5b T A 5: 150,720,132 (GRCm39) D1205E probably benign Het
Plxna2 T G 1: 194,434,411 (GRCm39) F646V probably benign Het
Pnrc1 C T 4: 33,248,045 (GRCm39) G118D probably benign Het
Ppp1r16b T C 2: 158,603,311 (GRCm39) F412S probably benign Het
Prcc A T 3: 87,777,398 (GRCm39) V192E probably damaging Het
Psg19 A G 7: 18,527,973 (GRCm39) Y257H probably benign Het
Rfx7 T G 9: 72,527,110 (GRCm39) S1433R possibly damaging Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Sanbr G A 11: 23,570,465 (GRCm39) P145L probably benign Het
Sbspon G T 1: 15,954,021 (GRCm39) C86* probably null Het
Sdhb A G 4: 140,704,729 (GRCm39) E230G possibly damaging Het
Sema6b T C 17: 56,432,336 (GRCm39) T581A probably benign Het
Shkbp1 G T 7: 27,042,173 (GRCm39) T594K possibly damaging Het
Shpk A G 11: 73,090,486 (GRCm39) S48G probably benign Het
Slc1a3 A G 15: 8,672,483 (GRCm39) V332A possibly damaging Het
Slc25a25 T C 2: 32,311,384 (GRCm39) E135G possibly damaging Het
Slc5a8 A T 10: 88,745,493 (GRCm39) D367V probably damaging Het
Slco1c1 A G 6: 141,515,051 (GRCm39) T649A probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats1 T A 17: 45,765,131 (GRCm39) D163V probably damaging Het
Ssh2 T A 11: 77,316,419 (GRCm39) M304K probably damaging Het
Sulf1 T A 1: 12,929,232 (GRCm39) D166E probably benign Het
Syne1 A G 10: 5,283,446 (GRCm39) S1540P probably damaging Het
Tcf7l1 A T 6: 72,604,330 (GRCm39) probably null Het
Tet1 A T 10: 62,658,415 (GRCm39) M1477K probably benign Het
Tlr5 T C 1: 182,801,881 (GRCm39) F395S probably damaging Het
Trrap T C 5: 144,795,764 (GRCm39) L3847P probably damaging Het
Tsks C T 7: 44,602,112 (GRCm39) S276L probably benign Het
Uggt1 T C 1: 36,185,187 (GRCm39) E1519G probably damaging Het
Vps13a A G 19: 16,631,703 (GRCm39) probably null Het
Wdfy4 A G 14: 32,696,239 (GRCm39) V2768A Het
Wdr26 A C 1: 181,008,889 (GRCm39) I627R probably benign Het
Zfp160 T A 17: 21,245,749 (GRCm39) S100T 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
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
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
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'- TCGGTCTGTGGCCTAAACTC -3'
(R):5'- TCCCTCTACCACAGATGAAATG -3'

Sequencing Primer
(F):5'- TCTGTGGCCTAAACTCGACAG -3'
(R):5'- AGCTTGATTCGGGAAGTG -3'
Posted On 2019-06-26