Incidental Mutation 'IGL02324:Flt4'
ID 288398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flt4
Ensembl Gene ENSMUSG00000020357
Gene Name FMS-like tyrosine kinase 4
Synonyms VEGFR3, VEGFR-3, Flt-4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02324
Quality Score
Status
Chromosome 11
Chromosomal Location 49500506-49543566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 49536822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1264 (T1264I)
Ref Sequence ENSEMBL: ENSMUSP00000020617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020617]
AlphaFold P35917
Predicted Effect probably benign
Transcript: ENSMUST00000020617
AA Change: T1264I

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: T1264I

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
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T A 3: 151,203,511 (GRCm39) C124S probably damaging Het
Aldh1a7 T C 19: 20,704,368 (GRCm39) N42S probably damaging Het
Arhgef1 T C 7: 24,623,240 (GRCm39) L667P probably damaging Het
C1qb C A 4: 136,607,811 (GRCm39) R184L possibly damaging Het
Cacna1s A G 1: 136,002,914 (GRCm39) probably benign Het
Cdk20 A G 13: 64,585,734 (GRCm39) E244G probably benign Het
Copg2 C A 6: 30,840,469 (GRCm39) probably null Het
Cyp2d40 A T 15: 82,645,149 (GRCm39) probably benign Het
Cyp2j6 A G 4: 96,414,170 (GRCm39) I365T probably damaging Het
Dhx29 A G 13: 113,064,342 (GRCm39) K6E probably damaging Het
Dpp10 T A 1: 123,295,531 (GRCm39) T539S probably benign Het
Ehbp1 A T 11: 22,046,048 (GRCm39) I542K probably damaging Het
Fat1 A G 8: 45,493,593 (GRCm39) Y3913C probably damaging Het
Fmnl1 A G 11: 103,070,364 (GRCm39) D51G probably damaging Het
Gm17093 A G 14: 44,755,807 (GRCm39) T25A unknown Het
Gpatch2 A G 1: 186,957,936 (GRCm39) E97G probably damaging Het
Hcn1 T C 13: 118,039,422 (GRCm39) L446P unknown Het
Hpse2 A T 19: 42,920,038 (GRCm39) L354I probably damaging Het
Hspa4 A G 11: 53,190,885 (GRCm39) probably null Het
Krtap16-1 C T 11: 99,877,129 (GRCm39) V92M probably damaging Het
Med23 A T 10: 24,773,239 (GRCm39) Q281L probably damaging Het
Megf8 T C 7: 25,039,873 (GRCm39) S963P probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mycbp2 A G 14: 103,479,643 (GRCm39) S1217P probably damaging Het
Myocd C A 11: 65,069,484 (GRCm39) L785F probably benign Het
Nell2 T C 15: 95,126,982 (GRCm39) T798A probably damaging Het
Nfat5 T C 8: 108,092,808 (GRCm39) probably benign Het
Olfm5 T C 7: 103,803,302 (GRCm39) probably null Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
P2ry1 A T 3: 60,911,199 (GRCm39) N113Y possibly damaging Het
Pan3 A G 5: 147,466,933 (GRCm39) probably null Het
Pappa A G 4: 65,115,045 (GRCm39) R714G probably damaging Het
Plcd1 A G 9: 118,901,710 (GRCm39) F579L probably damaging Het
Ptprb T C 10: 116,155,238 (GRCm39) V664A probably benign Het
Slc27a5 T A 7: 12,731,487 (GRCm39) Q168L probably benign Het
Spag8 T C 4: 43,651,781 (GRCm39) E395G probably damaging Het
Stfa2l1 T C 16: 35,982,138 (GRCm39) Y70H probably damaging Het
Taf2 T C 15: 54,891,772 (GRCm39) N1017S probably benign Het
Tnfrsf25 C A 4: 152,203,779 (GRCm39) Q296K probably damaging Het
Trpm3 T A 19: 22,676,143 (GRCm39) I103N 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
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
R0360:Flt4 UTSW 11 49,527,818 (GRCm39) missense probably benign 0.02
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
Posted On 2015-04-16