|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.052)|
|Stock #||R7167 (G1)|
|Chromosomal Location||23702034-23710854 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 23708069 bp (GRCm38)|
|Amino Acid Change||Valine to Glutamic Acid at position 104 (V104E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000089298 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006787] [ENSMUST00000091706] [ENSMUST00000091707]|
AA Change: V104E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V104E
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||94% (65/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this gene affects iron metabolism. Homozygotes for targeted null mutations exhibit increased intestinal iron absorption and an elevated hepatic iron load but reduced duodenal iron stores. Heterozygotes also accumulate more iron than normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hfe||
(F):5'- CTAGGTTAGCAGACAGAGGC -3'
(R):5'- ATTCTCTAAGATACCTCTTCATGGG -3'
(F):5'- GCAGAGAGCCTCCTAGACATC -3'
(R):5'- CTCTTCATGGGTGCCTCAGAG -3'