|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 40 (iron-regulated transporter), member 1|
|Synonyms||Dusg, metal transporting protein 1, Ol5, ferroportin1, IREG1, Slc11a3, FPN1, Pcm, MTP1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7755 (G1)|
|Chromosomal Location||45908068-45926523 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 45911306 bp|
|Amino Acid Change||Threonine to Alanine at position 329 (T329A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027137 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027137]|
|Predicted Effect||probably damaging
AA Change: T329A
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: T329A
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit embryonic lethality before embryo turning. Mice heterozygous for a targeted mutation display decreased thermal response latency. Mice heterozygous for an ENU induced mutation display abnormal iron homeostasis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc40a1||
(F):5'- GCTTCCAGGCATGAATACGG -3'
(R):5'- CTCATCTAATGGGTGAGAAAGACTCC -3'
(F):5'- CTTCCAGGCATGAATACGGAGATC -3'
(R):5'- CTCCAACATCCGTGAACTTGAATGTG -3'