Incidental Mutation 'R4865:Flt1'
ID 430243
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 042475-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4865 (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: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (86/88)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,938,157 (GRCm39) V639M probably damaging Het
Adgrf4 A G 17: 42,978,156 (GRCm39) S396P probably damaging Het
Aldh3b2 T A 19: 4,028,469 (GRCm39) I123N probably damaging Het
Aldh5a1 A G 13: 25,095,567 (GRCm39) Y517H probably damaging Het
Aph1c A C 9: 66,735,120 (GRCm39) I77S probably damaging Het
Armc8 A G 9: 99,408,942 (GRCm39) probably null Het
Atp13a5 G A 16: 29,066,912 (GRCm39) P1020L probably damaging Het
BC024139 A T 15: 76,010,266 (GRCm39) M80K possibly damaging Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cenpn A G 8: 117,661,512 (GRCm39) I204V probably damaging Het
Ces4a A T 8: 105,873,790 (GRCm39) M420L probably benign Het
Chdh T A 14: 29,755,681 (GRCm39) D322E probably benign Het
Clcn6 A T 4: 148,104,223 (GRCm39) I223N probably damaging Het
Clec4b1 A G 6: 123,045,428 (GRCm39) K50E possibly damaging Het
Creg1 T A 1: 165,597,432 (GRCm39) C135* probably null Het
Cyp4f13 C T 17: 33,144,678 (GRCm39) R411Q probably damaging Het
Dnah7b T C 1: 46,234,234 (GRCm39) F1426L probably damaging Het
Dock9 A T 14: 121,780,917 (GRCm39) *1917R probably null Het
Dync1h1 T G 12: 110,606,235 (GRCm39) L2435R possibly damaging Het
Eif3l C A 15: 78,965,849 (GRCm39) Y166* probably null Het
Emilin1 T A 5: 31,075,128 (GRCm39) N456K possibly damaging Het
Fam83f C T 15: 80,576,650 (GRCm39) R434C probably damaging Het
Fbxw9 A G 8: 85,786,785 (GRCm39) D10G possibly damaging Het
Fsip2 T G 2: 82,821,295 (GRCm39) V5676G possibly damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm11596 A G 11: 99,684,064 (GRCm39) probably benign Het
Gm6522 T C 3: 106,183,286 (GRCm39) noncoding transcript Het
Gm6728 A G 6: 136,464,072 (GRCm39) noncoding transcript Het
Gria4 T A 9: 4,464,295 (GRCm39) I556F possibly damaging Het
Grp A T 18: 66,013,041 (GRCm39) D69V probably damaging Het
Gucy1a1 G T 3: 82,026,469 (GRCm39) probably benign Het
Haus5 A T 7: 30,357,980 (GRCm39) L376Q probably damaging Het
Ifne A T 4: 88,797,942 (GRCm39) Y159N probably damaging Het
Ift80 A G 3: 68,898,092 (GRCm39) V81A probably benign Het
Inpp5b T C 4: 124,645,288 (GRCm39) V192A probably benign Het
Kcnh4 A G 11: 100,640,569 (GRCm39) S486P probably damaging Het
Kif5b A G 18: 6,222,912 (GRCm39) probably benign Het
Macf1 T A 4: 123,327,096 (GRCm39) E4800D probably damaging Het
Mblac2 C T 13: 81,860,095 (GRCm39) Q150* probably null Het
Mc1r A T 8: 124,134,255 (GRCm39) T3S probably benign Het
Med17 G A 9: 15,176,668 (GRCm39) Q70* probably null Het
Myocd A T 11: 65,069,856 (GRCm39) probably null Het
Nphp3 T C 9: 103,909,169 (GRCm39) L793P probably benign Het
Or1ad1 A G 11: 50,876,370 (GRCm39) T281A probably damaging Het
Or2m13 A T 16: 19,226,051 (GRCm39) F238L probably damaging Het
Or4a68 T G 2: 89,270,003 (GRCm39) T207P possibly damaging Het
Or5an10 T C 19: 12,275,944 (GRCm39) D184G probably damaging Het
Or5ap2 T A 2: 85,680,060 (GRCm39) M88K probably damaging Het
Or8c13 T A 9: 38,091,196 (GRCm39) T308S possibly damaging Het
Piezo1 A T 8: 123,213,660 (GRCm39) L1745Q probably damaging Het
Prdm10 T A 9: 31,258,376 (GRCm39) H600Q probably damaging Het
Psapl1 C A 5: 36,362,211 (GRCm39) L268M probably damaging Het
Psg23 T C 7: 18,346,039 (GRCm39) I219V probably benign Het
Rexo5 A T 7: 119,400,553 (GRCm39) R113* probably null Het
Rgs22 A T 15: 36,100,358 (GRCm39) I243N probably damaging Het
Rhbdf1 G A 11: 32,164,517 (GRCm39) T183I probably damaging Het
Rhobtb1 T C 10: 69,106,554 (GRCm39) M373T probably benign Het
Ros1 G T 10: 52,048,966 (GRCm39) A88E probably damaging Het
Sdr16c6 A G 4: 4,058,834 (GRCm39) F251L probably benign Het
Skil A G 3: 31,167,562 (GRCm39) Y398C probably damaging Het
Slc22a3 A T 17: 12,683,419 (GRCm39) M148K probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Sntn A T 14: 13,679,103 (GRCm38) K92N probably benign Het
Spry4 A T 18: 38,722,876 (GRCm39) S296T probably benign Het
St8sia1 A G 6: 142,774,796 (GRCm39) F261S probably damaging Het
Stab2 C T 10: 86,679,364 (GRCm39) probably null Het
Stk24 A T 14: 121,530,866 (GRCm39) C363* probably null Het
Tank G A 2: 61,408,979 (GRCm39) probably benign Het
Tmem67 T C 4: 12,070,262 (GRCm39) N387S probably benign Het
Treml1 A T 17: 48,673,885 (GRCm39) I304L probably benign Het
Trim13 A G 14: 61,842,966 (GRCm39) I328V probably benign Het
Upk2 A G 9: 44,365,382 (GRCm39) V62A probably damaging Het
Urb2 A T 8: 124,756,374 (GRCm39) K694* probably null Het
Vmn2r17 C A 5: 109,574,985 (GRCm39) N97K probably damaging Het
Vmn2r57 A T 7: 41,049,892 (GRCm39) V619D probably damaging Het
Vmn2r92 G A 17: 18,387,634 (GRCm39) R213Q probably benign Het
Wnt6 G A 1: 74,821,788 (GRCm39) C123Y probably damaging Het
Zfp292 A G 4: 34,819,563 (GRCm39) I253T probably damaging Het
Zfp52 C T 17: 21,781,505 (GRCm39) S451L 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
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'- AAGGATGCTCCAGACGAGTC -3'
(R):5'- AGAAACTACACTGCTTTGGGG -3'

Sequencing Primer
(F):5'- ATGCTCCAGACGAGTCTACTGAG -3'
(R):5'- ACTACACTGCTTTGGGGGACAG -3'
Posted On 2016-09-28