Incidental Mutation 'R6455:Slc40a1'
ID 519514
Institutional Source Beutler Lab
Gene Symbol Slc40a1
Ensembl Gene ENSMUSG00000025993
Gene Name solute carrier family 40 (iron-regulated transporter), member 1
Synonyms ferroportin1, IREG1, MTP1, metal transporting protein 1, Pcm, Ol5, Slc11a3, Dusg, FPN1
MMRRC Submission 044591-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6455 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 45947228-45965683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45958107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 109 (I109F)
Ref Sequence ENSEMBL: ENSMUSP00000027137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027137] [ENSMUST00000186804] [ENSMUST00000187406] [ENSMUST00000187420]
AlphaFold Q9JHI9
Predicted Effect probably damaging
Transcript: ENSMUST00000027137
AA Change: I109F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: I109F

DomainStartEndE-ValueType
Pfam:FPN1 22 530 5e-194 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186755
Predicted Effect probably benign
Transcript: ENSMUST00000186804
SMART Domains Protein: ENSMUSP00000140969
Gene: ENSMUSG00000025993

DomainStartEndE-ValueType
Pfam:FPN1 22 70 4.9e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186822
Predicted Effect probably benign
Transcript: ENSMUST00000187406
SMART Domains Protein: ENSMUSP00000140734
Gene: ENSMUSG00000025993

DomainStartEndE-ValueType
Pfam:FPN1 22 70 4.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187420
SMART Domains Protein: ENSMUSP00000140549
Gene: ENSMUSG00000025993

DomainStartEndE-ValueType
Pfam:FPN1 22 70 4.9e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191247
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 96% (70/73)
MGI Phenotype 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
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,042,376 (GRCm39) R1899G probably damaging Het
Abca6 C T 11: 110,132,407 (GRCm39) G296D probably damaging Het
Abcb5 A T 12: 118,854,284 (GRCm39) probably null Het
Adam28 T G 14: 68,870,657 (GRCm39) T339P probably damaging Het
Adam34l T A 8: 44,079,189 (GRCm39) H345L probably damaging Het
Adcy10 C G 1: 165,345,943 (GRCm39) Q331E probably damaging Het
Aldh1a2 A T 9: 71,160,196 (GRCm39) probably null Het
Alms1 T A 6: 85,673,639 (GRCm39) I3078N probably damaging Het
Amtn A T 5: 88,528,139 (GRCm39) N71Y probably damaging Het
Arhgef18 A T 8: 3,438,753 (GRCm39) Y370F probably benign Het
Arid4a T C 12: 71,121,862 (GRCm39) S748P probably benign Het
Atp2b1 C A 10: 98,852,842 (GRCm39) Q108K possibly damaging Het
Bcdin3d T C 15: 99,368,830 (GRCm39) D123G probably benign Het
Capn15 A G 17: 26,184,410 (GRCm39) S24P probably damaging Het
Cc2d2a T A 5: 43,896,754 (GRCm39) S1550R possibly damaging Het
Ccdc7a C T 8: 129,559,091 (GRCm39) V1174M probably damaging Het
Cd22 T A 7: 30,575,578 (GRCm39) I155F probably damaging Het
Ceacam3 T C 7: 16,895,863 (GRCm39) I611T possibly damaging Het
Chrna1 C T 2: 73,397,180 (GRCm39) D370N possibly damaging Het
Dlg2 C A 7: 92,093,716 (GRCm39) probably null Het
Dll4 A T 2: 119,164,276 (GRCm39) probably null Het
Eif5b T C 1: 38,058,108 (GRCm39) S137P probably benign Het
Epn2 A T 11: 61,424,467 (GRCm39) M250K probably damaging Het
Fat2 T A 11: 55,161,283 (GRCm39) Q3149L probably damaging Het
Fbxl13 G A 5: 21,761,812 (GRCm39) S341F probably benign Het
Gm5141 A T 13: 62,922,597 (GRCm39) C191S probably damaging Het
Gm5150 C T 3: 16,044,815 (GRCm39) G137S probably damaging Het
Gpr75 C T 11: 30,841,529 (GRCm39) R145W probably damaging Het
Heatr5b G A 17: 79,060,502 (GRCm39) H2058Y probably benign Het
Ina G A 19: 47,012,000 (GRCm39) E473K probably benign Het
Irx6 T C 8: 93,402,700 (GRCm39) S22P probably benign Het
Itpr1 T A 6: 108,394,933 (GRCm39) M32K probably damaging Het
Jmjd1c T A 10: 67,061,795 (GRCm39) S1383T probably benign Het
Lclat1 T A 17: 73,468,828 (GRCm39) S3T probably damaging Het
Llgl1 G A 11: 60,600,486 (GRCm39) V612M probably damaging Het
Mios A G 6: 8,231,239 (GRCm39) R708G probably benign Het
Mphosph8 T C 14: 56,925,943 (GRCm39) L636P probably damaging Het
Mrgpra2b T A 7: 47,113,893 (GRCm39) N254Y probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Myog G A 1: 134,218,226 (GRCm39) D145N probably benign Het
Nat10 T A 2: 103,570,231 (GRCm39) I371F possibly damaging Het
Neb A T 2: 52,057,656 (GRCm39) Y229* probably null Het
Nlrp6 T A 7: 140,507,422 (GRCm39) I896K possibly damaging Het
Or11g7 A T 14: 50,691,042 (GRCm39) I178L possibly damaging Het
Or52p2 G A 7: 102,237,878 (GRCm39) A24V probably benign Het
Or5an11 T C 19: 12,246,070 (GRCm39) S159P probably damaging Het
Pate5 T A 9: 35,755,351 (GRCm39) K3* probably null Het
Pcdhgc5 A C 18: 37,954,301 (GRCm39) E525A probably damaging Het
Pira1 T A 7: 3,741,930 (GRCm39) Y150F probably benign Het
Pkd2 C A 5: 104,607,790 (GRCm39) D96E probably benign Het
Prtg A G 9: 72,815,138 (GRCm39) D1022G probably damaging Het
Ptpn13 T C 5: 103,689,150 (GRCm39) M981T probably benign Het
Rc3h2 C A 2: 37,299,482 (GRCm39) A183S probably damaging Het
Rorb A T 19: 18,937,856 (GRCm39) I270N probably damaging Het
Rpgrip1 C T 14: 52,378,646 (GRCm39) R524W probably damaging Het
Slc25a10 T C 11: 120,386,031 (GRCm39) V124A probably damaging Het
Spen G A 4: 141,202,820 (GRCm39) R1936W probably damaging Het
St6gal2 T A 17: 55,789,514 (GRCm39) Y183N probably benign Het
Svil A G 18: 5,056,629 (GRCm39) K588E possibly damaging Het
Tas2r122 C T 6: 132,688,626 (GRCm39) W89* probably null Het
Tbxas1 T A 6: 38,929,079 (GRCm39) probably benign Het
Tia1 T A 6: 86,397,360 (GRCm39) I111N probably damaging Het
Tlr9 T A 9: 106,101,198 (GRCm39) L163H probably damaging Het
Tnn C T 1: 159,942,289 (GRCm39) V806M probably damaging Het
Traf5 G A 1: 191,731,887 (GRCm39) A318V probably benign Het
Ttc3 T A 16: 94,219,482 (GRCm39) M1K probably null Het
Utp25 G T 1: 192,810,684 (GRCm39) D106E probably benign Het
Vmn1r192 T A 13: 22,372,000 (GRCm39) R73S probably benign Het
Vmn1r71 T C 7: 10,482,331 (GRCm39) Y53C probably benign Het
Vmn2r34 T A 7: 7,686,582 (GRCm39) N372Y probably damaging Het
Wbp2 A T 11: 115,970,579 (GRCm39) S229R probably damaging Het
Wdr18 C T 10: 79,801,115 (GRCm39) T176I probably damaging Het
Other mutations in Slc40a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Slc40a1 APN 1 45,948,652 (GRCm39) missense probably benign 0.19
IGL01576:Slc40a1 APN 1 45,948,757 (GRCm39) missense probably damaging 1.00
IGL02113:Slc40a1 APN 1 45,950,054 (GRCm39) missense probably benign 0.33
IGL02116:Slc40a1 APN 1 45,950,688 (GRCm39) missense probably benign 0.01
IGL02220:Slc40a1 APN 1 45,950,495 (GRCm39) missense probably damaging 1.00
IGL02537:Slc40a1 APN 1 45,950,553 (GRCm39) missense probably benign 0.01
IGL02574:Slc40a1 APN 1 45,951,534 (GRCm39) missense possibly damaging 0.77
IGL02673:Slc40a1 APN 1 45,957,576 (GRCm39) missense possibly damaging 0.82
IGL02794:Slc40a1 APN 1 45,948,668 (GRCm39) nonsense probably null
R0376:Slc40a1 UTSW 1 45,951,651 (GRCm39) splice site probably benign
R0417:Slc40a1 UTSW 1 45,950,534 (GRCm39) missense possibly damaging 0.50
R1608:Slc40a1 UTSW 1 45,950,457 (GRCm39) missense probably damaging 0.96
R1723:Slc40a1 UTSW 1 45,963,921 (GRCm39) missense probably damaging 1.00
R1892:Slc40a1 UTSW 1 45,950,302 (GRCm39) nonsense probably null
R2092:Slc40a1 UTSW 1 45,948,614 (GRCm39) missense probably benign
R2303:Slc40a1 UTSW 1 45,950,044 (GRCm39) splice site probably benign
R2365:Slc40a1 UTSW 1 45,963,873 (GRCm39) splice site probably null
R3718:Slc40a1 UTSW 1 45,950,151 (GRCm39) missense probably benign
R4689:Slc40a1 UTSW 1 45,951,473 (GRCm39) missense probably benign 0.00
R4994:Slc40a1 UTSW 1 45,948,824 (GRCm39) missense probably damaging 1.00
R5103:Slc40a1 UTSW 1 45,958,155 (GRCm39) nonsense probably null
R5151:Slc40a1 UTSW 1 45,950,516 (GRCm39) missense possibly damaging 0.84
R5364:Slc40a1 UTSW 1 45,964,383 (GRCm39) missense probably damaging 0.96
R5404:Slc40a1 UTSW 1 45,951,488 (GRCm39) missense probably damaging 1.00
R5531:Slc40a1 UTSW 1 45,951,498 (GRCm39) missense probably damaging 1.00
R5841:Slc40a1 UTSW 1 45,951,509 (GRCm39) missense probably damaging 1.00
R6440:Slc40a1 UTSW 1 45,964,422 (GRCm39) start codon destroyed probably null 0.94
R6975:Slc40a1 UTSW 1 45,948,652 (GRCm39) missense probably benign 0.19
R7085:Slc40a1 UTSW 1 45,950,688 (GRCm39) missense probably benign
R7130:Slc40a1 UTSW 1 45,960,384 (GRCm39) missense probably damaging 1.00
R7502:Slc40a1 UTSW 1 45,958,134 (GRCm39) missense probably damaging 1.00
R7755:Slc40a1 UTSW 1 45,950,466 (GRCm39) missense probably damaging 0.99
R8085:Slc40a1 UTSW 1 45,957,528 (GRCm39) missense probably damaging 1.00
R8218:Slc40a1 UTSW 1 45,950,129 (GRCm39) missense probably benign 0.03
R8308:Slc40a1 UTSW 1 45,950,180 (GRCm39) missense probably benign 0.02
R8333:Slc40a1 UTSW 1 45,950,439 (GRCm39) missense probably damaging 0.97
R8427:Slc40a1 UTSW 1 45,951,498 (GRCm39) missense probably damaging 1.00
R8493:Slc40a1 UTSW 1 45,950,576 (GRCm39) missense probably damaging 0.98
R8515:Slc40a1 UTSW 1 45,951,467 (GRCm39) missense probably damaging 0.99
R8817:Slc40a1 UTSW 1 45,948,699 (GRCm39) missense probably damaging 1.00
R8981:Slc40a1 UTSW 1 45,948,580 (GRCm39) missense probably benign
R8987:Slc40a1 UTSW 1 45,950,495 (GRCm39) missense probably damaging 1.00
R9042:Slc40a1 UTSW 1 45,948,621 (GRCm39) missense probably benign 0.31
R9183:Slc40a1 UTSW 1 45,948,671 (GRCm39) missense possibly damaging 0.92
R9242:Slc40a1 UTSW 1 45,950,129 (GRCm39) missense probably benign
R9522:Slc40a1 UTSW 1 45,948,672 (GRCm39) missense probably damaging 1.00
R9582:Slc40a1 UTSW 1 45,950,499 (GRCm39) missense probably damaging 1.00
R9783:Slc40a1 UTSW 1 45,951,513 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGTCTACATTTTCACTGCTGTTAC -3'
(R):5'- AACTGCGGCAGGATTTACTG -3'

Sequencing Primer
(F):5'- TCCTGGAGGAGCTGAGGC -3'
(R):5'- CAGGATTTACTGCTGGAAGGTTATC -3'
Posted On 2018-05-24