|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 #||R4994 (G1)|
|Chromosomal Location||45908068-45926523 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 45909664 bp|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 485 (E485D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027137 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027137]|
|Predicted Effect||probably damaging
AA Change: E485D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E485D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1076|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
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'- CAGAGTCTTCTGGGCAAATCG -3'
(R):5'- TCTTGAAGGCATTAGCACATACTAG -3'
(F):5'- GTCTTCTGGGCAAATCGGAAATAC -3'
(R):5'- AGGTAAAATGCGGTTAATCTGTTC -3'