|Institutional Source||Beutler Lab|
|Gene Name||ferritin heavy polypeptide 1|
|Synonyms||HFt, H-ferritin, FHC, MFH|
|Is this an essential gene?||Not available|
|Stock #||R2063 (G1)|
|Chromosomal Location||9982703-9985092 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 9984212 bp|
|Amino Acid Change||Leucine to Glutamine at position 49 (L49Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025563 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025563] [ENSMUST00000117346]|
|Predicted Effect||probably damaging
AA Change: L49Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L49Q
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. Mice heterozygous for a knock-out allele exhibit oxidative stress in neurons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fth1||
(F):5'- TTCTCTGCACTAATACCGAGCC -3'
(R):5'- CAAGGACAGAAGCCTCAGTG -3'
(F):5'- TACCGAGCCGTAGAACACTTG -3'
(R):5'- GAAGCCTCAGTGCACCATCATTTC -3'