Incidental Mutation 'R0070:Flt3'
ID 17095
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 038361-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0070 (G1)
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 147267551-147337299 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 147309536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049324]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000049324
SMART Domains Protein: ENSMUSP00000039041
Gene: ENSMUSG00000042817

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110549
SMART Domains Protein: ENSMUSP00000106178
Gene: ENSMUSG00000042817

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
IG 79 162 1.87e0 SMART
IG 258 346 2.57e0 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 88.0%
  • 3x: 83.9%
  • 10x: 69.3%
  • 20x: 41.9%
Validation Efficiency 88% (67/76)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,109,154 (GRCm39) I387T probably damaging Het
Ankfn1 A T 11: 89,283,128 (GRCm39) L173Q probably damaging Het
Atp2a1 T C 7: 126,046,624 (GRCm39) E892G probably benign Het
AU018091 T C 7: 3,208,738 (GRCm39) probably null Het
Capn12 T C 7: 28,588,551 (GRCm39) probably benign Het
Capn2 C A 1: 182,301,434 (GRCm39) probably benign Het
Cd79b A G 11: 106,202,744 (GRCm39) probably benign Het
Cdh20 C T 1: 110,026,102 (GRCm39) A446V probably benign Het
Ciapin1 T C 8: 95,551,847 (GRCm39) N246S possibly damaging Het
Gm2027 T A 12: 44,269,145 (GRCm39) probably benign Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hycc1 T C 5: 24,169,997 (GRCm39) S451G probably damaging Het
Hykk T A 9: 54,829,632 (GRCm39) probably benign Het
Kansl1l T C 1: 66,840,262 (GRCm39) D346G probably damaging Het
Kcnt1 T C 2: 25,782,374 (GRCm39) V191A probably benign Het
Lcorl G A 5: 45,891,043 (GRCm39) R437C probably damaging Het
Mtch1 T A 17: 29,559,033 (GRCm39) probably benign Het
Myo1c A G 11: 75,551,076 (GRCm39) N217S probably benign Het
Nav2 A G 7: 49,220,462 (GRCm39) E1669G probably damaging Het
Or2h15 A G 17: 38,441,780 (GRCm39) L101P probably damaging Het
Or2w4 T C 13: 21,795,431 (GRCm39) K236R possibly damaging Het
Or5p51 T G 7: 107,444,124 (GRCm39) D272A probably damaging Het
Phf20l1 T G 15: 66,511,840 (GRCm39) W940G probably damaging Het
Pi4k2b A C 5: 52,914,260 (GRCm39) D309A probably damaging Het
Pkd2 T C 5: 104,614,856 (GRCm39) C233R probably damaging Het
Prkd3 A G 17: 79,261,939 (GRCm39) Y792H probably damaging Het
Pxdn T C 12: 30,032,726 (GRCm39) L146S probably damaging Het
Serpinh1 A T 7: 98,998,521 (GRCm39) S36R probably damaging Het
Setx A T 2: 29,051,537 (GRCm39) T2030S probably benign Het
Sin3b T A 8: 73,452,210 (GRCm39) H105Q probably damaging Het
Slx4 A T 16: 3,805,880 (GRCm39) D557E possibly damaging Het
Stag1 C T 9: 100,838,461 (GRCm39) P1238S probably null Het
Stra6 C T 9: 58,059,898 (GRCm39) probably benign Het
Taok1 T A 11: 77,444,543 (GRCm39) M511L probably benign Het
Tmem127 T C 2: 127,098,979 (GRCm39) V171A probably damaging Het
Tmem147 T C 7: 30,427,526 (GRCm39) Y97C probably damaging Het
Tmem150a A G 6: 72,335,742 (GRCm39) probably null Het
Top2a C G 11: 98,905,886 (GRCm39) probably null Het
Zc3hav1l A T 6: 38,272,125 (GRCm39) S215T probably damaging Het
Zscan20 C T 4: 128,479,675 (GRCm39) V939I possibly damaging 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
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
R7651:Flt3 UTSW 5 147,291,732 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-01-20