Incidental Mutation 'R7519:Flt3l'
ID 582563
Institutional Source Beutler Lab
Gene Symbol Flt3l
Ensembl Gene ENSMUSG00000110206
Gene Name FMS-like tyrosine kinase 3 ligand
Synonyms
MMRRC Submission 045591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R7519 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44780607-44785914 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44783269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 176 (T176I)
Ref Sequence ENSEMBL: ENSMUSP00000147278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000146760] [ENSMUST00000209238] [ENSMUST00000209467] [ENSMUST00000210197] [ENSMUST00000210818] [ENSMUST00000211246] [ENSMUST00000211429]
AlphaFold P49772
Predicted Effect probably benign
Transcript: ENSMUST00000146760
SMART Domains Protein: ENSMUSP00000123506
Gene: ENSMUSG00000110206

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Flt3_lig 28 162 1.9e-94 PFAM
transmembrane domain 189 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209238
Predicted Effect probably benign
Transcript: ENSMUST00000209467
Predicted Effect probably benign
Transcript: ENSMUST00000209612
Predicted Effect probably benign
Transcript: ENSMUST00000210197
Predicted Effect probably benign
Transcript: ENSMUST00000210818
Predicted Effect unknown
Transcript: ENSMUST00000211246
AA Change: T176I
Predicted Effect probably benign
Transcript: ENSMUST00000211429
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy but exhibit reduced cellularity in a number of hematopoietic tissues, reduced numbers of myeloid and lymphoid progenitors in the bone marrow, and reduced numbers of dendritic cells and natural killer cells in the lymphoid organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik G A 7: 27,274,155 (GRCm39) R132K Het
Acaca T C 11: 84,136,682 (GRCm39) S571P probably damaging Het
Adamts20 T G 15: 94,223,869 (GRCm39) K1286N possibly damaging Het
Adamts7 A G 9: 90,079,132 (GRCm39) D1477G probably benign Het
Alox12b C T 11: 69,054,039 (GRCm39) T207I probably benign Het
Arid1b GGGCGGCGGCGGCGGCGGCGGCGG GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG 17: 5,046,119 (GRCm39) probably benign Het
Arid1b CGGCGG CGGCGGTGGCGG 17: 5,046,128 (GRCm39) probably benign Het
Aspm T A 1: 139,418,074 (GRCm39) N2934K possibly damaging Het
Axin2 T G 11: 108,833,072 (GRCm39) V419G probably benign Het
B4galnt4 A G 7: 140,644,257 (GRCm39) T108A probably damaging Het
Cacna1s G A 1: 135,998,494 (GRCm39) R174Q probably damaging Het
Cdh18 G T 15: 23,474,298 (GRCm39) A723S possibly damaging Het
Ces4a T C 8: 105,871,851 (GRCm39) M307T probably damaging Het
Cobl T A 11: 12,203,124 (GRCm39) I1193F probably damaging Het
Crb2 G T 2: 37,683,332 (GRCm39) G945W probably damaging Het
Ctnna1 T G 18: 35,307,424 (GRCm39) I140M probably benign Het
Dnah5 T C 15: 28,390,629 (GRCm39) S3213P probably damaging Het
Fbln7 A G 2: 128,735,785 (GRCm39) S258G probably benign Het
Fbxo15 T G 18: 84,982,359 (GRCm39) probably benign Het
Fcgbp A G 7: 27,785,724 (GRCm39) Y387C probably damaging Het
Galk2 G A 2: 125,825,172 (GRCm39) R456H possibly damaging Het
Gm10840 T C 11: 106,051,716 (GRCm39) L14P unknown Het
Gm5591 T C 7: 38,220,094 (GRCm39) T260A possibly damaging Het
Gm6370 T A 5: 146,430,638 (GRCm39) D274E probably damaging Het
Grhl2 T A 15: 37,336,556 (GRCm39) D484E probably damaging Het
Hbp1 A T 12: 31,983,374 (GRCm39) V360D probably damaging Het
Heatr5b G T 17: 79,062,646 (GRCm39) Q1968K probably benign Het
Igsf8 C T 1: 172,143,874 (GRCm39) T72M probably benign Het
Kera A T 10: 97,444,884 (GRCm39) N81I probably damaging Het
Klhl14 C T 18: 21,784,900 (GRCm39) V176I probably benign Het
Klrb1 A T 6: 128,689,252 (GRCm39) V73E probably damaging Het
Krtap31-2 T C 11: 99,827,501 (GRCm39) L111P possibly damaging Het
Mbtd1 T C 11: 93,799,725 (GRCm39) S106P probably damaging Het
Nckap5l T C 15: 99,324,128 (GRCm39) T792A probably benign Het
Ndufaf4 A C 4: 24,901,847 (GRCm39) T132P probably damaging Het
Neo1 A G 9: 58,785,348 (GRCm39) V1453A probably benign Het
Or5w13 T C 2: 87,523,753 (GRCm39) I158V probably benign Het
Or6c76 A C 10: 129,612,091 (GRCm39) I103L probably benign Het
Pcdha11 T A 18: 37,139,319 (GRCm39) L316* probably null Het
Pcdha7 T C 18: 37,109,285 (GRCm39) M770T possibly damaging Het
Pcsk1 T C 13: 75,258,984 (GRCm39) S253P probably damaging Het
Phtf1 T C 3: 103,876,435 (GRCm39) Y12H probably damaging Het
Pkd1l2 T C 8: 117,792,268 (GRCm39) N508S probably benign Het
Pla1a A G 16: 38,235,208 (GRCm39) I162T possibly damaging Het
Rb1 A T 14: 73,502,048 (GRCm39) L446M probably damaging Het
Retn A T 8: 3,706,079 (GRCm39) S22C probably damaging Het
Snx25 A G 8: 46,569,309 (GRCm39) L196P probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Spata31d1b G A 13: 59,864,726 (GRCm39) D625N probably benign Het
Sycp2 T C 2: 177,988,126 (GRCm39) *1501W probably null Het
Tarbp1 T G 8: 127,160,639 (GRCm39) T1271P possibly damaging Het
Uba1y T C Y: 821,567 (GRCm39) F154L probably benign Het
Ubr1 T A 2: 120,705,925 (GRCm39) I1513F possibly damaging Het
Vmn2r110 T A 17: 20,804,524 (GRCm39) Q132L probably benign Het
Vwf A T 6: 125,644,506 (GRCm39) T2454S Het
Wdr33 C A 18: 32,029,823 (GRCm39) F1007L unknown Het
Zfp398 A G 6: 47,836,407 (GRCm39) H201R probably benign Het
Other mutations in Flt3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0551:Flt3l UTSW 7 44,781,690 (GRCm39) missense probably damaging 1.00
R0707:Flt3l UTSW 7 44,785,450 (GRCm39) missense probably benign 0.18
R4296:Flt3l UTSW 7 44,783,428 (GRCm39) missense probably damaging 0.99
R6332:Flt3l UTSW 7 44,783,091 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ATGGATGACATGAGACGTTGC -3'
(R):5'- ATGTCTGCGATTCGTCCAGAC -3'

Sequencing Primer
(F):5'- GTCAGCCTAGCCTGCATAATGAG -3'
(R):5'- GATTCGTCCAGACCAACATCTC -3'
Posted On 2019-10-17