Incidental Mutation 'R4907:Flt1'
ID 439427
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 042509-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4907 (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: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 98% (89/91)
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
1700066M21Rik G T 1: 57,422,350 (GRCm39) G242V probably damaging Het
4933412E24Rik T C 15: 59,887,957 (GRCm39) E161G probably benign Het
Abcc5 A G 16: 20,195,296 (GRCm39) S734P possibly damaging Het
Actn1 T G 12: 80,228,188 (GRCm39) H394P probably damaging Het
Adam8 A T 7: 139,569,286 (GRCm39) D144E probably benign Het
Ankrd50 A T 3: 38,510,824 (GRCm39) N514K probably damaging Het
Ankrd50 T A 3: 38,509,122 (GRCm39) K1082* probably null Het
Atp4a A G 7: 30,418,517 (GRCm39) I602V possibly damaging Het
Baz2a A G 10: 127,946,677 (GRCm39) T64A probably damaging Het
Btbd19 A G 4: 116,977,764 (GRCm39) probably benign Het
Casz1 T A 4: 149,028,998 (GRCm39) S1148T probably damaging Het
Ccdc18 T A 5: 108,284,007 (GRCm39) D103E probably benign Het
Cd209d T C 8: 3,927,948 (GRCm39) N52S probably benign Het
Cdh20 T A 1: 110,066,053 (GRCm39) Y776N probably damaging Het
Cdk14 A G 5: 5,299,140 (GRCm39) V101A probably damaging Het
Cldn22 T C 8: 48,277,742 (GRCm39) V60A probably benign Het
Clec10a G A 11: 70,060,797 (GRCm39) G183D probably benign Het
Cnga3 T C 1: 37,281,023 (GRCm39) probably null Het
Cts3 A T 13: 61,714,634 (GRCm39) F224I probably benign Het
Dync2i2 A G 2: 29,922,472 (GRCm39) probably null Het
Fbxo40 A G 16: 36,790,064 (GRCm39) Y349H probably benign Het
Gm10029 A T 13: 6,712,592 (GRCm39) noncoding transcript Het
Gm14399 T A 2: 174,973,182 (GRCm39) probably benign Het
Gm9932 T C 5: 100,347,014 (GRCm39) noncoding transcript Het
Immp1l A G 2: 105,767,462 (GRCm39) Y107C probably damaging Het
Ism1 G T 2: 139,520,672 (GRCm39) G28V probably benign Het
Klf1 C A 8: 85,629,814 (GRCm39) S213* probably null Het
Krt12 T C 11: 99,309,188 (GRCm39) E329G probably damaging Het
Lama2 A T 10: 27,040,942 (GRCm39) N1460K probably benign Het
Llgl2 T A 11: 115,744,800 (GRCm39) Y932* probably null Het
Lrrc7 T C 3: 157,866,877 (GRCm39) I955V probably damaging Het
Ltbp1 A G 17: 75,312,899 (GRCm39) R7G probably benign Het
Mcm3ap A G 10: 76,329,275 (GRCm39) E1152G probably damaging Het
Mgam2-ps T C 6: 40,811,677 (GRCm39) noncoding transcript Het
Mical3 T A 6: 120,984,259 (GRCm39) M206L probably benign Het
Mndal T G 1: 173,690,256 (GRCm39) N358T probably damaging Het
Nckap5 A G 1: 125,953,889 (GRCm39) S824P possibly damaging Het
Ndufb2 T C 6: 39,573,554 (GRCm39) probably benign Het
Nfatc3 C A 8: 106,806,359 (GRCm39) H401Q probably damaging Het
Npas2 T C 1: 39,401,066 (GRCm39) V810A unknown Het
Nt5c2 A G 19: 46,884,978 (GRCm39) V245A possibly damaging Het
Or1j4 A T 2: 36,740,270 (GRCm39) I71F probably benign Het
Or4d5 A T 9: 40,011,955 (GRCm39) M277K probably benign Het
Or51ah3 A G 7: 103,210,241 (GRCm39) M186V possibly damaging Het
Or52h9 A G 7: 104,202,518 (GRCm39) R131G probably damaging Het
Or5b109 A G 19: 13,212,157 (GRCm39) D181G probably damaging Het
Otof A T 5: 30,536,005 (GRCm39) probably null Het
Pck1 C T 2: 172,998,816 (GRCm39) T358I probably damaging Het
Pclo T C 5: 14,730,065 (GRCm39) probably benign Het
Pgm2 T A 5: 64,261,221 (GRCm39) F238L probably benign Het
Pgr G A 9: 8,947,044 (GRCm39) probably benign Het
Pkd1l3 T A 8: 110,367,475 (GRCm39) V1224E probably damaging Het
Pkd2l1 A G 19: 44,142,581 (GRCm39) V487A possibly damaging Het
Pkhd1 T C 1: 20,279,450 (GRCm39) D2956G probably damaging Het
Rexo2 A T 9: 48,390,703 (GRCm39) probably null Het
Rgs22 T A 15: 36,087,570 (GRCm39) L573F possibly damaging Het
Rufy3 T G 5: 88,732,051 (GRCm39) I18S possibly damaging Het
Slc30a9 T C 5: 67,503,505 (GRCm39) L393P probably damaging Het
Snw1 T C 12: 87,506,259 (GRCm39) I214V probably benign Het
Sorbs1 G A 19: 40,328,491 (GRCm39) Q595* probably null Het
Spata21 T A 4: 140,824,432 (GRCm39) probably null Het
Ss18l1 G T 2: 179,705,192 (GRCm39) probably null Het
Tmem163 A T 1: 127,447,107 (GRCm39) L176H probably damaging Het
Tpd52 T C 3: 9,009,668 (GRCm39) probably null Het
Tpsab1 T A 17: 25,562,436 (GRCm39) Y297F possibly damaging Het
Trim55 A G 3: 19,728,538 (GRCm39) T450A probably benign Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Txndc11 A T 16: 10,906,398 (GRCm39) H377Q probably benign Het
Usp17la A G 7: 104,510,355 (GRCm39) Y320C probably damaging Het
Vmn2r109 T C 17: 20,770,348 (GRCm39) N547D probably damaging Het
Vmn2r54 A T 7: 12,350,150 (GRCm39) probably null Het
Wdr33 T C 18: 32,040,046 (GRCm39) *1331Q probably null Het
Wdr90 T A 17: 26,079,624 (GRCm39) probably benign Het
Xpo7 T C 14: 70,908,069 (GRCm39) M903V probably benign Het
Zfhx3 T A 8: 109,519,986 (GRCm39) S369R probably damaging Het
Zfp808 T C 13: 62,319,287 (GRCm39) F172S possibly damaging Het
Zfp821 A G 8: 110,450,625 (GRCm39) E55G probably benign Het
Zfp964 T C 8: 70,115,972 (GRCm39) Y191H possibly damaging Het
Zfyve1 T C 12: 83,621,646 (GRCm39) T250A 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
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 2016-10-28