Trf,Gm20425 - SNV Details



 Gene Information 
Gene Name Trf , Gm20425
Old Gene Names for Trf Ai266983
Gene Description transferrin [Source:MGI Symbol;Acc:MGI:98821],predicted gene 20425 [Source:MGI Symbol;Acc:MGI:5141890]
MGI phenotype Homozygotes for a spontaneous mutation exhibit refractory iron-deficient, hypochromic, microcytic anemia with iron-loading in the liver, pancreas, heart and brain. Mutants usually die by two weeks of age. Heterozygotes show minor increases in iron stores.,NO_PHENOTYPE
Uniprot Name
CCDS Name
Gene GO
positive regulation of transcription
DNA-templated; osteoclast differentiation; early endosome; coated pit; dense body; positive regulation of cell motility; ERK1 and ERK2 cascade; protein binding; ferric iron binding; iron ion transport; actin filament organization; endosome; activation of JUN kinase activity; positive regulation of bone resorption; positive regulation of phosphorylation; endocytic vesicle; extracellular region; vesicle coat; SMAD protein signal transduction; cellular iron ion homeostasis; recycling endosome
membrane; endoplasmic reticulum membrane; intracellular; GTPase activity; cytoplasmic microtubule; small GTPase mediated signal transduction; ferric iron binding; integral component of membrane; iron ion transport; GTP binding; extracellular region; cellular iron ion homeostasis
Homolog in other species TF,NO_HOMOLOG
Immgen Expression
NO_IMMGEN,LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Gnf Expression
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP),NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000090639
Chromosome 9
Coordinate 103,220,957     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 35
Allele Frequency
A:R0.51
G:V0.49
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL00156
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved