Incidental Mutation 'IGL00712:Fth1'
ID 10838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fth1
Ensembl Gene ENSMUSG00000024661
Gene Name ferritin heavy polypeptide 1
Synonyms FHC, HFt, H-ferritin, MFH
Accession Numbers
Essential gene? Not available question?
Stock # IGL00712
Quality Score
Status
Chromosome 19
Chromosomal Location 9957962-9962462 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9962163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 136 (T136A)
Ref Sequence ENSEMBL: ENSMUSP00000025563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025563] [ENSMUST00000117346]
AlphaFold P09528
PDB Structure Structure of Mouse H-chain modified ferritin [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025563
AA Change: T136A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000025563
Gene: ENSMUSG00000024661
AA Change: T136A

DomainStartEndE-ValueType
Pfam:Ferritin 18 159 1.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117346
SMART Domains Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418

DomainStartEndE-ValueType
Pfam:Bestrophin 8 316 8.5e-111 PFAM
low complexity region 476 488 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 C T 10: 4,357,164 (GRCm38) V1325L probably benign Het
Ccdc150 A C 1: 54,311,709 (GRCm39) probably benign Het
Itpr2 T C 6: 146,133,934 (GRCm39) D1857G possibly damaging Het
Nbas A G 12: 13,412,626 (GRCm39) probably benign Het
Nipbl T A 15: 8,398,958 (GRCm39) R115S probably damaging Het
Nlrp14 A G 7: 106,796,448 (GRCm39) N266D probably damaging Het
Tmem256 T C 11: 69,730,063 (GRCm39) L47S probably damaging Het
Other mutations in Fth1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4280001:Fth1 UTSW 19 9,961,973 (GRCm39) missense probably damaging 0.98
R1482:Fth1 UTSW 19 9,962,217 (GRCm39) missense probably benign 0.02
R2063:Fth1 UTSW 19 9,961,576 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06