Incidental Mutation 'R7651:Flt3'
ID 590829
Institutional Source Beutler Lab
Gene Symbol Flt3
Ensembl Gene ENSMUSG00000042817
Gene Name FMS-like tyrosine kinase 3
Synonyms CD135, Flk-2, Flt-3, Flk2, wmfl
MMRRC Submission 045728-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7651 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 147267551-147337299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 147291732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 573 (Y573D)
Ref Sequence ENSEMBL: ENSMUSP00000039041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049324]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000049324
AA Change: Y573D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039041
Gene: ENSMUSG00000042817
AA Change: Y573D

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
IG 79 162 1.87e0 SMART
IG 258 346 2.57e0 SMART
internal_repeat_1 380 529 8.53e-14 PROSPERO
TyrKc 611 946 1.7e-140 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice functionally null for this gene display abnormal lymphopoiesis. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,184,188 (GRCm39) V302G Het
A230072I06Rik T C 8: 12,329,689 (GRCm39) I48T unknown Het
Ada T A 2: 163,574,275 (GRCm39) D127V probably damaging Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Ankrd34c T C 9: 89,611,463 (GRCm39) R293G possibly damaging Het
Ap2b1 T C 11: 83,230,256 (GRCm39) probably null Het
Arhgef16 A G 4: 154,375,524 (GRCm39) S157P probably damaging Het
Atp2b1 C T 10: 98,852,830 (GRCm39) L1036F probably damaging Het
Ccdc27 A T 4: 154,112,556 (GRCm39) I573N probably damaging Het
Cep164 T C 9: 45,685,150 (GRCm39) E869G probably benign Het
Colq A T 14: 31,250,292 (GRCm39) V381D possibly damaging Het
Drc1 A G 5: 30,516,958 (GRCm39) E519G probably benign Het
Drosha G A 15: 12,859,522 (GRCm39) V577I probably benign Het
Epg5 C T 18: 78,024,615 (GRCm39) Q1157* probably null Het
Eqtn T C 4: 94,811,944 (GRCm39) S150G possibly damaging Het
Fam110d C T 4: 133,978,959 (GRCm39) R173H probably damaging Het
Fam216a G A 5: 122,505,445 (GRCm39) H172Y probably damaging Het
Fbxw19 T A 9: 109,323,714 (GRCm39) D87V probably damaging Het
Fgr A T 4: 132,722,324 (GRCm39) I198F probably damaging Het
Flnc A G 6: 29,444,049 (GRCm39) D621G probably benign Het
Git2 A T 5: 114,871,296 (GRCm39) I603N probably damaging Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gnb5 T C 9: 75,250,853 (GRCm39) F326L probably damaging Het
Grm8 A T 6: 27,760,257 (GRCm39) W358R possibly damaging Het
Hoxa3 A G 6: 52,149,253 (GRCm39) V126A unknown Het
Hras T C 7: 140,772,064 (GRCm39) T144A possibly damaging Het
Hyal1 G A 9: 107,455,569 (GRCm39) R293H probably damaging Het
Ifnlr1 A G 4: 135,417,919 (GRCm39) S49G possibly damaging Het
Ighv8-11 C A 12: 115,531,005 (GRCm39) C41F probably benign Het
Jakmip1 A G 5: 37,291,617 (GRCm39) T689A probably damaging Het
Kcnb1 T C 2: 167,030,281 (GRCm39) H88R probably damaging Het
Kcnt2 T A 1: 140,498,199 (GRCm39) M892K probably benign Het
Lrba C A 3: 86,648,773 (GRCm39) S2507* probably null Het
Mbp C T 18: 82,572,499 (GRCm39) T65I probably damaging Het
Muc2 A T 7: 141,290,750 (GRCm39) Y12F Het
Muc4 T A 16: 32,576,949 (GRCm39) S80T Het
Muc5ac A G 7: 141,349,991 (GRCm39) D579G possibly damaging Het
Muc5b A G 7: 141,417,760 (GRCm39) T3569A possibly damaging Het
Myb C T 10: 21,032,273 (GRCm39) R36H probably damaging Het
Myo6 T C 9: 80,171,548 (GRCm39) probably null Het
Ogfod1 T C 8: 94,763,981 (GRCm39) V22A probably benign Het
Orai3 A G 7: 127,373,236 (GRCm39) I246V probably damaging Het
Otog A G 7: 45,891,185 (GRCm39) M68V probably benign Het
Pcdh20 T A 14: 88,706,589 (GRCm39) D237V probably damaging Het
Pcdhb18 T C 18: 37,624,046 (GRCm39) F459L probably benign Het
Pik3c2g C T 6: 139,599,070 (GRCm39) T62M possibly damaging Het
Plaa T C 4: 94,470,876 (GRCm39) Y420C probably damaging Het
Ppp1r9b C T 11: 94,892,768 (GRCm39) A656V probably benign Het
Pramel39-ps T C 5: 94,451,236 (GRCm39) T297A probably benign Het
Prg4 T A 1: 150,330,696 (GRCm39) E659V unknown Het
Prlhr C A 19: 60,455,583 (GRCm39) A328S probably benign Het
Prlr A T 15: 10,328,464 (GRCm39) D313V probably benign Het
Prune2 C T 19: 17,097,772 (GRCm39) T1092I probably damaging Het
Psme4 T A 11: 30,787,334 (GRCm39) L1043H probably damaging Het
Ptprr T C 10: 116,087,084 (GRCm39) V521A probably benign Het
Rab44 A T 17: 29,367,179 (GRCm39) D703V unknown Het
Rpl9-ps1 A T 11: 83,535,911 (GRCm39) Y179* probably null Het
Scg3 T A 9: 75,589,332 (GRCm39) N107I probably benign Het
Sh3bgrl2 T C 9: 83,430,525 (GRCm39) V5A possibly damaging Het
Slc7a12 T C 3: 14,546,509 (GRCm39) V218A probably benign Het
Sorcs2 A G 5: 36,185,322 (GRCm39) L918P probably damaging Het
Sox1 C A 8: 12,446,686 (GRCm39) A109E probably damaging Het
Syne1 T A 10: 5,155,074 (GRCm39) M5622L probably benign Het
Syne1 A T 10: 5,293,416 (GRCm39) L1305Q probably damaging Het
Tacc2 A T 7: 130,224,884 (GRCm39) H523L probably benign Het
Tas1r2 A T 4: 139,396,938 (GRCm39) D788V probably benign Het
Tcl1b5 T A 12: 105,142,694 (GRCm39) D7E possibly damaging Het
Tesc A G 5: 118,194,666 (GRCm39) D159G possibly damaging Het
Tm2d2 G T 8: 25,507,316 (GRCm39) probably benign Het
Tnfrsf11a T A 1: 105,737,171 (GRCm39) C93S probably damaging Het
Tnfsf4 T C 1: 161,244,593 (GRCm39) V94A probably benign Het
Trav13n-3 T A 14: 53,574,964 (GRCm39) Y69N probably benign Het
Utp20 T C 10: 88,590,457 (GRCm39) D2339G probably benign Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r114 G T 17: 23,509,986 (GRCm39) Y831* probably null Het
Vmn2r72 T A 7: 85,401,146 (GRCm39) N91I probably damaging Het
Zfp846 T C 9: 20,499,808 (GRCm39) S13P possibly damaging Het
Zfp934 G T 13: 62,666,327 (GRCm39) N116K probably benign Het
Other mutations in Flt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Flt3 APN 5 147,291,686 (GRCm39) missense probably damaging 1.00
IGL01083:Flt3 APN 5 147,291,680 (GRCm39) missense probably damaging 1.00
IGL01749:Flt3 APN 5 147,294,838 (GRCm39) missense probably benign 0.02
IGL01765:Flt3 APN 5 147,294,788 (GRCm39) missense probably benign
IGL02109:Flt3 APN 5 147,287,491 (GRCm39) missense probably benign 0.00
IGL02490:Flt3 APN 5 147,268,106 (GRCm39) missense probably damaging 1.00
IGL02631:Flt3 APN 5 147,281,362 (GRCm39) missense probably damaging 1.00
IGL03117:Flt3 APN 5 147,293,020 (GRCm39) missense probably benign
flick UTSW 5 147,278,048 (GRCm39) missense probably damaging 1.00
warmflash UTSW 5 147,303,728 (GRCm39) critical splice donor site probably null
R0070:Flt3 UTSW 5 147,309,536 (GRCm39) splice site probably benign
R0070:Flt3 UTSW 5 147,309,536 (GRCm39) splice site probably benign
R0320:Flt3 UTSW 5 147,306,389 (GRCm39) splice site probably benign
R0347:Flt3 UTSW 5 147,294,802 (GRCm39) missense probably damaging 1.00
R0512:Flt3 UTSW 5 147,278,080 (GRCm39) nonsense probably null
R0968:Flt3 UTSW 5 147,278,037 (GRCm39) missense possibly damaging 0.46
R1180:Flt3 UTSW 5 147,278,048 (GRCm39) missense probably damaging 1.00
R1266:Flt3 UTSW 5 147,293,670 (GRCm39) missense probably benign 0.00
R1562:Flt3 UTSW 5 147,281,323 (GRCm39) missense probably damaging 1.00
R1803:Flt3 UTSW 5 147,303,865 (GRCm39) nonsense probably null
R2000:Flt3 UTSW 5 147,278,048 (GRCm39) missense probably damaging 1.00
R2021:Flt3 UTSW 5 147,306,300 (GRCm39) missense probably damaging 0.98
R2079:Flt3 UTSW 5 147,291,893 (GRCm39) missense probably damaging 0.97
R2261:Flt3 UTSW 5 147,284,873 (GRCm39) missense probably benign 0.00
R2263:Flt3 UTSW 5 147,284,873 (GRCm39) missense probably benign 0.00
R3087:Flt3 UTSW 5 147,284,856 (GRCm39) missense probably benign 0.15
R3727:Flt3 UTSW 5 147,291,733 (GRCm39) missense probably damaging 0.96
R3939:Flt3 UTSW 5 147,293,053 (GRCm39) missense possibly damaging 0.87
R4469:Flt3 UTSW 5 147,312,454 (GRCm39) splice site silent
R4527:Flt3 UTSW 5 147,293,163 (GRCm39) missense probably benign 0.37
R4592:Flt3 UTSW 5 147,291,509 (GRCm39) missense possibly damaging 0.67
R4655:Flt3 UTSW 5 147,286,403 (GRCm39) missense possibly damaging 0.51
R4686:Flt3 UTSW 5 147,313,858 (GRCm39) missense probably damaging 1.00
R4867:Flt3 UTSW 5 147,271,250 (GRCm39) missense probably damaging 1.00
R4897:Flt3 UTSW 5 147,306,110 (GRCm39) missense probably damaging 1.00
R4941:Flt3 UTSW 5 147,293,185 (GRCm39) critical splice acceptor site probably null
R5254:Flt3 UTSW 5 147,312,500 (GRCm39) missense possibly damaging 0.60
R5325:Flt3 UTSW 5 147,312,459 (GRCm39) missense probably benign 0.00
R5395:Flt3 UTSW 5 147,291,633 (GRCm39) missense probably damaging 1.00
R5445:Flt3 UTSW 5 147,291,905 (GRCm39) nonsense probably null
R5469:Flt3 UTSW 5 147,291,893 (GRCm39) missense possibly damaging 0.63
R5556:Flt3 UTSW 5 147,269,807 (GRCm39) splice site probably null
R5660:Flt3 UTSW 5 147,306,291 (GRCm39) missense possibly damaging 0.79
R5879:Flt3 UTSW 5 147,271,719 (GRCm39) missense probably damaging 1.00
R5885:Flt3 UTSW 5 147,286,439 (GRCm39) missense probably damaging 1.00
R6554:Flt3 UTSW 5 147,312,545 (GRCm39) missense probably damaging 0.99
R6813:Flt3 UTSW 5 147,291,653 (GRCm39) missense probably damaging 0.97
R7451:Flt3 UTSW 5 147,286,477 (GRCm39) missense probably damaging 1.00
R7469:Flt3 UTSW 5 147,268,084 (GRCm39) missense probably benign 0.18
R7537:Flt3 UTSW 5 147,271,247 (GRCm39) missense probably damaging 1.00
R7605:Flt3 UTSW 5 147,286,386 (GRCm39) missense probably benign 0.01
R7842:Flt3 UTSW 5 147,271,263 (GRCm39) missense probably damaging 1.00
R8051:Flt3 UTSW 5 147,295,765 (GRCm39) intron probably benign
R8236:Flt3 UTSW 5 147,293,670 (GRCm39) missense probably benign 0.00
R8305:Flt3 UTSW 5 147,284,864 (GRCm39) missense probably damaging 0.96
R8337:Flt3 UTSW 5 147,269,698 (GRCm39) critical splice donor site probably null
R8680:Flt3 UTSW 5 147,320,265 (GRCm39) missense probably benign 0.13
R8682:Flt3 UTSW 5 147,320,265 (GRCm39) missense probably benign 0.13
R8697:Flt3 UTSW 5 147,294,811 (GRCm39) missense possibly damaging 0.94
R8824:Flt3 UTSW 5 147,271,673 (GRCm39) missense probably damaging 1.00
R8959:Flt3 UTSW 5 147,303,774 (GRCm39) missense possibly damaging 0.93
R9235:Flt3 UTSW 5 147,320,202 (GRCm39) missense possibly damaging 0.89
R9324:Flt3 UTSW 5 147,313,790 (GRCm39) missense probably benign 0.27
R9544:Flt3 UTSW 5 147,291,442 (GRCm39) missense possibly damaging 0.76
R9570:Flt3 UTSW 5 147,309,424 (GRCm39) missense possibly damaging 0.91
R9622:Flt3 UTSW 5 147,303,841 (GRCm39) missense possibly damaging 0.92
R9668:Flt3 UTSW 5 147,293,694 (GRCm39) missense probably benign 0.13
X0018:Flt3 UTSW 5 147,303,876 (GRCm39) missense possibly damaging 0.54
Z1088:Flt3 UTSW 5 147,286,374 (GRCm39) critical splice donor site probably null
Z1177:Flt3 UTSW 5 147,320,211 (GRCm39) missense probably benign 0.27
Z31818:Flt3 UTSW 5 147,303,728 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCCTGTAAAGATGGAGTAAGTGC -3'
(R):5'- GATTGCTTCTCTTGCAGGCC -3'

Sequencing Primer
(F):5'- AGTTCTCTCTCGGGAACT -3'
(R):5'- TTCCCTTTCATCCAAGACAACATC -3'
Posted On 2019-10-24