Incidental Mutation 'R1972:Flt1'
ID 221057
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 039985-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1972 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 147498414-147662821 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 147591903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000031653
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
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
SMART Domains Protein: ENSMUSP00000106158
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
IG 440 554 2.6e-2 SMART
IGc2 569 644 1.76e-8 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (77/77)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A G 8: 112,717,050 (GRCm39) probably benign Het
Bbs2 A G 8: 94,807,805 (GRCm39) probably benign Het
Bcl9 A C 3: 97,114,518 (GRCm39) D1035E probably damaging Het
Bmpr2 A G 1: 59,852,762 (GRCm39) E31G possibly damaging Het
Borcs5 A G 6: 134,687,137 (GRCm39) D164G probably damaging Het
Cap2 A G 13: 46,791,375 (GRCm39) R181G probably damaging Het
Ccdc113 A T 8: 96,264,874 (GRCm39) H128L probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Chat C T 14: 32,146,148 (GRCm39) V342I probably benign Het
Chrm4 C T 2: 91,757,838 (GRCm39) A82V probably benign Het
Cyp2d22 A T 15: 82,260,028 (GRCm39) M52K probably benign Het
Dennd2c T C 3: 103,039,014 (GRCm39) V54A probably benign Het
Dgka C T 10: 128,556,335 (GRCm39) G717D probably damaging Het
Dnah1 C T 14: 30,987,348 (GRCm39) W3550* probably null Het
Eif2ak1 A G 5: 143,821,532 (GRCm39) T283A probably benign Het
Entrep2 A T 7: 64,425,516 (GRCm39) I192N possibly damaging Het
Fcgbp A T 7: 27,793,617 (GRCm39) Y1173F probably benign Het
Gpr149 T C 3: 62,438,216 (GRCm39) K647R probably benign Het
Gsdma2 T C 11: 98,541,744 (GRCm39) V157A probably benign Het
Heatr4 T A 12: 84,001,794 (GRCm39) I884F probably damaging Het
Ift56 C A 6: 38,387,738 (GRCm39) N396K probably benign Het
Il17ra A G 6: 120,459,177 (GRCm39) E776G probably benign Het
Inpp5d T C 1: 87,604,036 (GRCm39) S235P probably benign Het
Iqgap3 T A 3: 87,991,235 (GRCm39) probably null Het
Isoc2a T A 7: 4,895,086 (GRCm39) D171E probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kcnk12 T C 17: 88,104,560 (GRCm39) D108G possibly damaging Het
Klra9 A T 6: 130,159,345 (GRCm39) probably null Het
Lgmn A G 12: 102,362,080 (GRCm39) probably benign Het
Morf4l1 A T 9: 89,977,267 (GRCm39) probably benign Het
Mthfr T C 4: 148,136,384 (GRCm39) I380T probably damaging Het
Mybpc1 T C 10: 88,387,404 (GRCm39) I436V probably benign Het
Naip5 A G 13: 100,349,278 (GRCm39) V1350A probably damaging Het
Neil2 A T 14: 63,423,526 (GRCm39) C36S possibly damaging Het
Nlrx1 A G 9: 44,164,753 (GRCm39) V897A probably benign Het
Nod2 A T 8: 89,379,501 (GRCm39) M8L probably damaging Het
Nop2 A G 6: 125,111,602 (GRCm39) T112A probably benign Het
Nrap T A 19: 56,345,785 (GRCm39) T608S probably damaging Het
Nuak2 A T 1: 132,258,340 (GRCm39) H257L probably damaging Het
Or10x1 T C 1: 174,197,136 (GRCm39) F218L probably benign Het
Or2ag12 T C 7: 106,277,426 (GRCm39) D89G probably benign Het
Or4c113 A T 2: 88,884,891 (GRCm39) M293K probably benign Het
Or52e8 T C 7: 104,625,106 (GRCm39) I33V possibly damaging Het
Or5ac25 A T 16: 59,182,476 (GRCm39) V35D probably damaging Het
Or5b119 T C 19: 13,457,058 (GRCm39) N168S probably benign Het
Or8b40 T A 9: 38,027,863 (GRCm39) M257K possibly damaging Het
Pde1a T C 2: 79,696,065 (GRCm39) E358G probably damaging Het
Pdlim1 A T 19: 40,211,581 (GRCm39) S237R probably damaging Het
Pithd1 T C 4: 135,714,340 (GRCm39) D36G probably damaging Het
Ppp2r3d A G 9: 101,088,976 (GRCm39) F449S probably benign Het
Prr11 G A 11: 86,989,580 (GRCm39) R264C possibly damaging Het
Rbm43 A T 2: 51,815,548 (GRCm39) H224Q probably benign Het
Rfx5 C T 3: 94,864,603 (GRCm39) L250F probably damaging Het
Rgs22 T A 15: 36,103,982 (GRCm39) I160L probably benign Het
Rorb T A 19: 18,929,567 (GRCm39) Q393H probably damaging Het
Rpl13a T A 7: 44,775,419 (GRCm39) K368* probably null Het
Scaf8 T G 17: 3,219,646 (GRCm39) S276R unknown Het
Scube2 A T 7: 109,408,421 (GRCm39) N675K probably benign Het
Sec22c A T 9: 121,517,320 (GRCm39) M126K possibly damaging Het
Serpinb11 T C 1: 107,297,210 (GRCm39) F29L probably damaging Het
Sis A G 3: 72,828,337 (GRCm39) F1217S probably damaging Het
Slc18a2 A G 19: 59,263,085 (GRCm39) D294G possibly damaging Het
Slc9c1 A G 16: 45,413,835 (GRCm39) T988A possibly damaging Het
Smndc1 A C 19: 53,371,986 (GRCm39) probably null Het
Sned1 G A 1: 93,192,795 (GRCm39) G361S probably damaging Het
Spatc1 A T 15: 76,169,075 (GRCm39) probably null Het
Stab2 A T 10: 86,796,180 (GRCm39) C356S probably damaging Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tbc1d30 A T 10: 121,142,135 (GRCm39) probably null Het
Tenm3 T C 8: 48,681,626 (GRCm39) E2668G probably damaging Het
Tigar A G 6: 127,064,889 (GRCm39) V253A possibly damaging Het
Tmc2 T A 2: 130,056,584 (GRCm39) probably benign Het
Ugt1a10 A T 1: 87,983,769 (GRCm39) Y189F probably damaging Het
Vmn2r82 A G 10: 79,214,680 (GRCm39) D221G probably damaging Het
Xkr5 C T 8: 18,991,997 (GRCm39) V131M 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
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
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'- AGAGTGGCATCAGGAGTCTG -3'
(R):5'- GAAGGCTCTCATAAAGTCTGTGG -3'

Sequencing Primer
(F):5'- TCAGGAGTCTGAAGAATACAGTCC -3'
(R):5'- AGGCTCTCATAAAGTCTGTGGTTTTC -3'
Posted On 2014-08-25