Incidental Mutation 'R0360:Flt4'
ID 65677
Institutional Source Beutler Lab
Gene Symbol Flt4
Ensembl Gene ENSMUSG00000020357
Gene Name FMS-like tyrosine kinase 4
Synonyms VEGFR3, VEGFR-3, Flt-4
MMRRC Submission 038566-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0360 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 49500506-49543566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49527818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 924 (M924L)
Ref Sequence ENSEMBL: ENSMUSP00000020617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020617]
AlphaFold P35917
Predicted Effect probably benign
Transcript: ENSMUST00000020617
AA Change: M924L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: M924L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 36 133 3.73e0 SMART
IG 237 328 3.15e-10 SMART
IG 341 419 4.5e0 SMART
IG 430 552 8.46e-2 SMART
IGc2 569 660 1.29e-6 SMART
IGc2 690 755 2.48e-17 SMART
transmembrane domain 776 798 N/A INTRINSIC
TyrKc 845 1169 2.2e-134 SMART
Meta Mutation Damage Score 0.3197 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 98% (93/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphaticvessels, and lymphedema. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,310,553 (GRCm39) probably benign Het
Adcyap1r1 G T 6: 55,452,508 (GRCm39) probably benign Het
Ankrd6 T C 4: 32,836,424 (GRCm39) T44A probably damaging Het
Ano7 A G 1: 93,316,380 (GRCm39) D221G probably benign Het
Bhlhe40 C A 6: 108,641,711 (GRCm39) N218K probably damaging Het
Bms1 A G 6: 118,382,251 (GRCm39) V429A probably benign Het
C7 T A 15: 5,018,444 (GRCm39) T800S probably benign Het
Camta2 G A 11: 70,574,136 (GRCm39) T127I probably damaging Het
Ccdc13 T A 9: 121,627,282 (GRCm39) N665I probably damaging Het
Ccdc157 T C 11: 4,096,663 (GRCm39) E362G probably damaging Het
Ccdc73 T A 2: 104,811,352 (GRCm39) N310K probably damaging Het
Cfap91 T A 16: 38,118,659 (GRCm39) probably null Het
Cmklr1 A T 5: 113,752,578 (GRCm39) L141H probably damaging Het
Cnst C A 1: 179,407,100 (GRCm39) A49E probably benign Het
Col5a3 C T 9: 20,683,762 (GRCm39) R1498Q unknown Het
Crybb3 T A 5: 113,223,819 (GRCm39) I197F probably damaging Het
Cryzl1 G A 16: 91,504,155 (GRCm39) P97S probably benign Het
Cubn T C 2: 13,315,318 (GRCm39) probably benign Het
Cyp2d37-ps T C 15: 82,574,253 (GRCm39) noncoding transcript Het
Cyp4a12b C A 4: 115,290,117 (GRCm39) N223K probably benign Het
D16Ertd472e A T 16: 78,344,773 (GRCm39) C112S probably benign Het
Dennd2a T C 6: 39,485,233 (GRCm39) T349A probably benign Het
Dock5 G A 14: 68,060,129 (GRCm39) probably benign Het
Dpp6 T C 5: 27,857,267 (GRCm39) L404P probably damaging Het
Dsc3 T A 18: 20,104,639 (GRCm39) T563S possibly damaging Het
Dync2h1 T A 9: 7,113,182 (GRCm39) E214D possibly damaging Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elmo1 A T 13: 20,748,663 (GRCm39) K503* probably null Het
Eng T C 2: 32,569,149 (GRCm39) S559P probably benign Het
Epc2 T A 2: 49,427,145 (GRCm39) V563E possibly damaging Het
Fancm A G 12: 65,122,724 (GRCm39) Y82C probably damaging Het
Gabpa T A 16: 84,654,275 (GRCm39) N317K possibly damaging Het
Gchfr T G 2: 118,998,327 (GRCm39) Y3* probably null Het
Gli3 G T 13: 15,899,349 (GRCm39) G912V probably benign Het
Gm10295 C A 7: 71,000,361 (GRCm39) C73F unknown Het
Gm10382 G T 5: 125,466,728 (GRCm39) probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Gpr146 G A 5: 139,364,933 (GRCm39) probably benign Het
Hexd T A 11: 121,102,969 (GRCm39) H62Q probably benign Het
Hgd T A 16: 37,431,546 (GRCm39) probably benign Het
Hs6st1 G A 1: 36,108,266 (GRCm39) probably null Het
Icam4 A G 9: 20,941,117 (GRCm39) Y123C probably damaging Het
Il24 A G 1: 130,811,674 (GRCm39) V134A probably damaging Het
Iqcb1 G T 16: 36,692,670 (GRCm39) A562S probably damaging Het
Iqgap2 A C 13: 95,867,783 (GRCm39) probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Kif1b A G 4: 149,347,186 (GRCm39) I330T probably damaging Het
Kirrel1 T C 3: 86,997,106 (GRCm39) Y287C probably damaging Het
Klf10 C T 15: 38,297,090 (GRCm39) V317M probably benign Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Lin37 T C 7: 30,256,438 (GRCm39) I97V possibly damaging Het
Lrrc37a C T 11: 103,391,466 (GRCm39) V1320I possibly damaging Het
Lrrc74a A G 12: 86,784,569 (GRCm39) H99R probably damaging Het
Me3 T A 7: 89,435,622 (GRCm39) probably null Het
Med13 T C 11: 86,219,987 (GRCm39) probably benign Het
Myh6 A T 14: 55,185,804 (GRCm39) Y1490* probably null Het
Myo10 T C 15: 25,804,454 (GRCm39) L1583P probably damaging Het
Nkx6-3 A G 8: 23,647,722 (GRCm39) E227G possibly damaging Het
Nlrp1a T A 11: 71,004,830 (GRCm39) probably benign Het
Nlrp5-ps A C 7: 14,317,016 (GRCm39) noncoding transcript Het
Nup188 T G 2: 30,216,491 (GRCm39) I765S probably null Het
Obscn G A 11: 59,019,107 (GRCm39) A969V probably benign Het
Or11a4 T C 17: 37,536,934 (GRCm39) L306P possibly damaging Het
Or1j19 T A 2: 36,677,452 (GRCm39) M305K probably benign Het
Or5a1 G T 19: 12,097,217 (GRCm39) D286E possibly damaging Het
Or8k33 A T 2: 86,384,123 (GRCm39) L115Q probably damaging Het
Otogl T A 10: 107,606,511 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,715,611 (GRCm39) R1472W probably damaging Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plscr4 T A 9: 92,370,814 (GRCm39) probably benign Het
Pon2 G A 6: 5,266,156 (GRCm39) Q288* probably null Het
Ptpn13 C A 5: 103,681,214 (GRCm39) R805S probably damaging Het
Pyroxd2 A T 19: 42,735,992 (GRCm39) V62D probably damaging Het
Rab37 G T 11: 115,047,790 (GRCm39) C44F probably damaging Het
Rbm44 T C 1: 91,080,069 (GRCm39) S52P probably benign Het
Rgl3 A G 9: 21,888,153 (GRCm39) W454R probably damaging Het
Rita1 A G 5: 120,747,837 (GRCm39) S154P probably benign Het
Scn5a T C 9: 119,351,665 (GRCm39) D772G probably damaging Het
Sec23ip G A 7: 128,363,129 (GRCm39) probably benign Het
Skic8 A T 9: 54,634,862 (GRCm39) probably benign Het
Slc23a1 T A 18: 35,756,032 (GRCm39) probably benign Het
Slco1a8 A C 6: 141,928,053 (GRCm39) probably benign Het
Sparcl1 T A 5: 104,237,503 (GRCm39) D444V probably damaging Het
Taar6 C A 10: 23,861,046 (GRCm39) V167L probably benign Het
Tmcc3 T A 10: 94,414,407 (GRCm39) N36K probably benign Het
Tmem200c T A 17: 69,147,543 (GRCm39) V42E probably damaging Het
Trhde T C 10: 114,338,887 (GRCm39) probably benign Het
Tshz3 A G 7: 36,469,958 (GRCm39) E649G probably benign Het
Utp4 T C 8: 107,625,169 (GRCm39) probably benign Het
Vmn1r30 A G 6: 58,412,262 (GRCm39) V190A probably benign Het
Vmn1r35 A G 6: 66,655,827 (GRCm39) I281T probably damaging Het
Vmn1r58 G T 7: 5,413,329 (GRCm39) H300Q probably benign Het
Vmn1r84 A G 7: 12,095,799 (GRCm39) L286P probably damaging Het
Vmn2r54 A T 7: 12,349,576 (GRCm39) C669S probably damaging Het
Zfp623 T C 15: 75,820,510 (GRCm39) S489P probably benign Het
Other mutations in Flt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Flt4 APN 11 49,526,088 (GRCm39) missense probably damaging 1.00
IGL01140:Flt4 APN 11 49,525,770 (GRCm39) nonsense probably null
IGL01360:Flt4 APN 11 49,534,333 (GRCm39) missense probably benign 0.04
IGL01386:Flt4 APN 11 49,528,162 (GRCm39) missense probably benign 0.00
IGL01769:Flt4 APN 11 49,525,998 (GRCm39) splice site probably benign
IGL02189:Flt4 APN 11 49,516,830 (GRCm39) missense probably damaging 1.00
IGL02206:Flt4 APN 11 49,521,217 (GRCm39) missense probably damaging 0.98
IGL02324:Flt4 APN 11 49,536,822 (GRCm39) missense probably benign 0.13
IGL02433:Flt4 APN 11 49,521,400 (GRCm39) missense probably benign 0.01
IGL03009:Flt4 APN 11 49,517,951 (GRCm39) missense probably benign 0.02
IGL03035:Flt4 APN 11 49,536,724 (GRCm39) nonsense probably null
IGL03059:Flt4 APN 11 49,533,134 (GRCm39) missense probably damaging 0.97
IGL03350:Flt4 APN 11 49,525,620 (GRCm39) nonsense probably null
PIT4802001:Flt4 UTSW 11 49,523,996 (GRCm39) missense probably benign
R0364:Flt4 UTSW 11 49,527,818 (GRCm39) missense probably benign 0.02
R0386:Flt4 UTSW 11 49,535,213 (GRCm39) missense probably benign 0.00
R0395:Flt4 UTSW 11 49,521,170 (GRCm39) missense probably benign 0.00
R0600:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R0666:Flt4 UTSW 11 49,516,274 (GRCm39) missense possibly damaging 0.53
R0720:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R0734:Flt4 UTSW 11 49,517,544 (GRCm39) missense possibly damaging 0.67
R0973:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1013:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1103:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1104:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1162:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1241:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1401:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1487:Flt4 UTSW 11 49,523,971 (GRCm39) missense possibly damaging 0.86
R1546:Flt4 UTSW 11 49,522,808 (GRCm39) missense probably benign 0.03
R1999:Flt4 UTSW 11 49,536,824 (GRCm39) missense probably benign 0.00
R2110:Flt4 UTSW 11 49,516,131 (GRCm39) missense probably benign 0.03
R2150:Flt4 UTSW 11 49,536,824 (GRCm39) missense probably benign 0.00
R2189:Flt4 UTSW 11 49,526,525 (GRCm39) missense probably benign 0.24
R2217:Flt4 UTSW 11 49,515,555 (GRCm39) missense probably benign 0.00
R2218:Flt4 UTSW 11 49,515,555 (GRCm39) missense probably benign 0.00
R2249:Flt4 UTSW 11 49,536,786 (GRCm39) missense possibly damaging 0.66
R2402:Flt4 UTSW 11 49,528,646 (GRCm39) missense possibly damaging 0.82
R3508:Flt4 UTSW 11 49,524,941 (GRCm39) missense probably damaging 0.99
R3974:Flt4 UTSW 11 49,527,567 (GRCm39) missense probably damaging 0.99
R4168:Flt4 UTSW 11 49,521,400 (GRCm39) missense probably benign 0.01
R4700:Flt4 UTSW 11 49,517,271 (GRCm39) intron probably benign
R4701:Flt4 UTSW 11 49,517,635 (GRCm39) missense possibly damaging 0.49
R4714:Flt4 UTSW 11 49,518,034 (GRCm39) missense probably damaging 0.99
R4817:Flt4 UTSW 11 49,516,242 (GRCm39) missense probably damaging 0.98
R4921:Flt4 UTSW 11 49,517,970 (GRCm39) missense probably damaging 0.98
R5066:Flt4 UTSW 11 49,524,990 (GRCm39) missense possibly damaging 0.62
R5095:Flt4 UTSW 11 49,517,986 (GRCm39) missense possibly damaging 0.95
R5166:Flt4 UTSW 11 49,524,084 (GRCm39) splice site probably null
R5245:Flt4 UTSW 11 49,541,861 (GRCm39) frame shift probably null
R5250:Flt4 UTSW 11 49,521,227 (GRCm39) missense possibly damaging 0.88
R5400:Flt4 UTSW 11 49,541,861 (GRCm39) frame shift probably null
R5401:Flt4 UTSW 11 49,541,861 (GRCm39) frame shift probably null
R5402:Flt4 UTSW 11 49,541,861 (GRCm39) frame shift probably null
R5527:Flt4 UTSW 11 49,525,581 (GRCm39) missense probably damaging 1.00
R5686:Flt4 UTSW 11 49,521,430 (GRCm39) missense probably benign 0.00
R5766:Flt4 UTSW 11 49,517,513 (GRCm39) missense possibly damaging 0.75
R5996:Flt4 UTSW 11 49,541,897 (GRCm39) missense probably damaging 1.00
R6037:Flt4 UTSW 11 49,527,867 (GRCm39) missense probably damaging 1.00
R6037:Flt4 UTSW 11 49,527,867 (GRCm39) missense probably damaging 1.00
R6352:Flt4 UTSW 11 49,534,333 (GRCm39) missense probably benign 0.04
R6361:Flt4 UTSW 11 49,521,405 (GRCm39) missense probably benign 0.00
R6574:Flt4 UTSW 11 49,516,199 (GRCm39) missense probably benign
R7205:Flt4 UTSW 11 49,525,125 (GRCm39) missense probably null 0.78
R7216:Flt4 UTSW 11 49,525,508 (GRCm39) missense possibly damaging 0.73
R7257:Flt4 UTSW 11 49,516,836 (GRCm39) missense probably benign 0.22
R7457:Flt4 UTSW 11 49,521,155 (GRCm39) missense possibly damaging 0.89
R7559:Flt4 UTSW 11 49,535,198 (GRCm39) missense possibly damaging 0.50
R8181:Flt4 UTSW 11 49,525,723 (GRCm39) missense probably damaging 0.99
R8286:Flt4 UTSW 11 49,528,089 (GRCm39) missense probably benign 0.00
R8885:Flt4 UTSW 11 49,527,160 (GRCm39) splice site probably benign
R9051:Flt4 UTSW 11 49,527,598 (GRCm39) missense probably benign 0.02
R9104:Flt4 UTSW 11 49,525,161 (GRCm39) missense probably damaging 1.00
R9112:Flt4 UTSW 11 49,524,064 (GRCm39) missense probably damaging 1.00
R9301:Flt4 UTSW 11 49,516,241 (GRCm39) missense possibly damaging 0.92
R9721:Flt4 UTSW 11 49,535,260 (GRCm39) critical splice donor site probably null
X0017:Flt4 UTSW 11 49,517,560 (GRCm39) missense possibly damaging 0.89
Predicted Primers
Posted On 2013-08-08