Incidental Mutation 'R0347:Flt3'
ID 38442
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 038554-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0347 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 147267551-147337299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 147294802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 423 (N423I)
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: N423I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039041
Gene: ENSMUSG00000042817
AA Change: N423I

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 0.4626 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency 100% (78/78)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,913,748 (GRCm39) E908G probably benign Het
Abcb5 T A 12: 118,928,986 (GRCm39) probably benign Het
Adhfe1 T A 1: 9,623,655 (GRCm39) F102Y probably benign Het
Aff4 A G 11: 53,290,915 (GRCm39) Y625C probably benign Het
Alox5 T C 6: 116,390,513 (GRCm39) E488G possibly damaging Het
Ankmy2 T C 12: 36,243,753 (GRCm39) C323R probably damaging Het
Ankrd28 A G 14: 31,423,979 (GRCm39) *1084R probably null Het
Apol10a A T 15: 77,372,891 (GRCm39) I176F probably damaging Het
Arhgap26 C T 18: 38,750,797 (GRCm39) T70I unknown Het
Arid2 A G 15: 96,268,833 (GRCm39) N982S probably benign Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Camsap3 A G 8: 3,652,029 (GRCm39) D291G probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdc20b G T 13: 113,196,361 (GRCm39) G162V probably damaging Het
Cep44 T G 8: 56,998,510 (GRCm39) E56A probably damaging Het
Cfap410 A T 10: 77,820,256 (GRCm39) I209F probably damaging Het
Cfap65 A G 1: 74,965,603 (GRCm39) L469P probably damaging Het
Cilp T A 9: 65,187,435 (GRCm39) C1177S probably benign Het
Ctnnbip1 C T 4: 149,630,211 (GRCm39) P7S probably damaging Het
Cyp11a1 T C 9: 57,923,543 (GRCm39) probably benign Het
Cyp3a11 C T 5: 145,802,735 (GRCm39) V253M possibly damaging Het
D630045J12Rik C A 6: 38,158,327 (GRCm39) V1117L probably damaging Het
Dnah7b T A 1: 46,280,104 (GRCm39) S2678T probably damaging Het
Dock1 T C 7: 134,365,596 (GRCm39) I428T probably damaging Het
Fam83f A G 15: 80,556,458 (GRCm39) D114G probably damaging Het
Fnbp1l A T 3: 122,383,824 (GRCm39) F31L probably damaging Het
Glrx3 G A 7: 137,039,430 (GRCm39) E10K unknown Het
Gm12185 T C 11: 48,806,009 (GRCm39) E394G probably benign Het
Gpatch1 C T 7: 34,997,056 (GRCm39) V381M probably benign Het
Grm8 T C 6: 27,981,221 (GRCm39) S230G probably benign Het
Heyl A T 4: 123,127,733 (GRCm39) D25V probably benign Het
Junb G A 8: 85,705,107 (GRCm39) probably benign Het
Klhl29 C A 12: 5,134,354 (GRCm39) V747F probably damaging Het
Krt77 T C 15: 101,768,304 (GRCm39) H569R unknown Het
Ldhb T C 6: 142,439,859 (GRCm39) N227S probably benign Het
Megf6 A G 4: 154,339,092 (GRCm39) D543G possibly damaging Het
Mrps23 A T 11: 88,101,519 (GRCm39) Q136L probably benign Het
Myh2 C T 11: 67,076,130 (GRCm39) probably benign Het
Nadk2 T A 15: 9,084,287 (GRCm39) D133E probably benign Het
Neurod4 G A 10: 130,106,980 (GRCm39) T98I probably damaging Het
Nfatc2 G T 2: 168,378,210 (GRCm39) T465K probably damaging Het
Nipbl A G 15: 8,380,216 (GRCm39) S859P probably benign Het
Nipsnap3a T C 4: 52,997,155 (GRCm39) probably benign Het
Nlrp4c A G 7: 6,069,415 (GRCm39) K439E possibly damaging Het
Or10q3 A T 19: 11,847,797 (GRCm39) L261H probably damaging Het
Or1e32 C T 11: 73,705,137 (GRCm39) G257D probably damaging Het
Or2a20 T C 6: 43,194,296 (GRCm39) F150L probably benign Het
Pds5b T A 5: 150,659,892 (GRCm39) probably benign Het
Pira13 A T 7: 3,825,873 (GRCm39) V332E probably damaging Het
Plch1 A G 3: 63,660,737 (GRCm39) M282T probably damaging Het
Plch2 C A 4: 155,071,178 (GRCm39) R1067L possibly damaging Het
Polr1has T A 17: 37,276,207 (GRCm39) M114K probably damaging Het
Pou2f2 A C 7: 24,797,126 (GRCm39) F206V probably damaging Het
Prss50 A G 9: 110,691,418 (GRCm39) I49V probably damaging Het
Rexo5 T A 7: 119,423,119 (GRCm39) probably null Het
Rgl2 C T 17: 34,151,712 (GRCm39) T252I probably damaging Het
Rp1l1 A T 14: 64,268,253 (GRCm39) K1280* probably null Het
Rpl24 T A 16: 55,790,540 (GRCm39) probably null Het
Satb1 T A 17: 52,046,934 (GRCm39) K763* probably null Het
Scart2 T A 7: 139,877,767 (GRCm39) H800Q probably damaging Het
Sema6a T A 18: 47,424,196 (GRCm39) R237S probably damaging Het
Spg11 T C 2: 121,927,850 (GRCm39) T645A probably damaging Het
Srrt T A 5: 137,297,938 (GRCm39) probably benign Het
Tanc1 T C 2: 59,673,335 (GRCm39) V1480A probably benign Het
Tbc1d2 T C 4: 46,620,574 (GRCm39) D412G possibly damaging Het
Tecrl T C 5: 83,442,479 (GRCm39) E198G probably damaging Het
Tigd4 A G 3: 84,501,167 (GRCm39) D28G probably damaging Het
Trp53bp2 T G 1: 182,269,213 (GRCm39) L226V probably benign Het
Ttll13 T C 7: 79,910,253 (GRCm39) S799P possibly damaging Het
Vps13c A T 9: 67,817,515 (GRCm39) Q1062H possibly damaging Het
Wnt10a T G 1: 74,832,702 (GRCm39) H98Q probably damaging Het
Zbtb47 C T 9: 121,592,168 (GRCm39) P198S probably damaging Het
Zfp959 T A 17: 56,204,180 (GRCm39) Y69* probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGTCACAGCACATCGGAGATGGAA -3'
(R):5'- GTTATGGTGACAGAAGGCATCAGGG -3'

Sequencing Primer
(F):5'- acatacataccacttacaaaacactc -3'
(R):5'- atgtgaatacactgttgctgtc -3'
Posted On 2013-05-23