Incidental Mutation 'IGL02794:Slc40a1'
ID 359906
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02794
Quality Score
Status
Chromosome 1
Chromosomal Location 45947228-45965683 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 45948668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 537 (Y537*)
Ref Sequence ENSEMBL: ENSMUSP00000027137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027137]
AlphaFold Q9JHI9
Predicted Effect probably null
Transcript: ENSMUST00000027137
AA Change: Y537*
SMART Domains Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: Y537*

DomainStartEndE-ValueType
Pfam:FPN1 22 530 5e-194 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190055
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,621,385 (GRCm39) C1082S probably benign Het
Akt2 G T 7: 27,328,806 (GRCm39) R176L probably benign Het
Aldh16a1 A G 7: 44,795,018 (GRCm39) Y484H probably damaging Het
Apeh A G 9: 107,969,209 (GRCm39) S280P possibly damaging Het
Atp1a4 T C 1: 172,071,653 (GRCm39) M481V probably benign Het
Atraid G A 5: 31,210,214 (GRCm39) S135N probably damaging Het
Camta2 C T 11: 70,566,484 (GRCm39) G677D possibly damaging Het
Ccdc18 A G 5: 108,319,614 (GRCm39) N545S probably benign Het
Cic A G 7: 24,985,069 (GRCm39) D1105G probably damaging Het
Crisp1 A T 17: 40,623,957 (GRCm39) M4K unknown Het
Crnkl1 C T 2: 145,772,532 (GRCm39) E182K possibly damaging Het
Dnmt1 A T 9: 20,847,847 (GRCm39) C114S probably benign Het
Dsc2 A T 18: 20,174,788 (GRCm39) Y496N probably damaging Het
Dst T C 1: 34,309,910 (GRCm39) V1528A probably damaging Het
Fbxl8 C T 8: 105,994,752 (GRCm39) T88M probably benign Het
Fbxo10 T C 4: 45,041,928 (GRCm39) N767S probably benign Het
Gm1527 A G 3: 28,949,829 (GRCm39) T30A unknown Het
Gorasp2 C A 2: 70,509,838 (GRCm39) Y166* probably null Het
Gucy2c T A 6: 136,690,146 (GRCm39) Q744L probably damaging Het
Heg1 A T 16: 33,546,992 (GRCm39) N593I probably damaging Het
Ice1 T A 13: 70,757,278 (GRCm39) S236C possibly damaging Het
Il12b T C 11: 44,298,808 (GRCm39) Y88H probably damaging Het
Izumo3 C T 4: 92,035,200 (GRCm39) V6I probably benign Het
Kcna6 A G 6: 126,715,515 (GRCm39) V458A probably damaging Het
Kif13b G A 14: 65,040,889 (GRCm39) R1659Q probably benign Het
Klk1b1 A G 7: 43,619,789 (GRCm39) D116G possibly damaging Het
Lama2 T C 10: 26,917,227 (GRCm39) T2233A possibly damaging Het
Lin9 A T 1: 180,479,444 (GRCm39) K59N probably damaging Het
Ltbp2 T C 12: 84,838,709 (GRCm39) E1083G probably damaging Het
Mfsd11 T A 11: 116,750,177 (GRCm39) S105T probably damaging Het
Mga T A 2: 119,776,770 (GRCm39) I1768N possibly damaging Het
Mical3 C A 6: 120,984,270 (GRCm39) G202V probably damaging Het
Mylk A T 16: 34,806,911 (GRCm39) I1719F probably benign Het
Nusap1 T A 2: 119,460,867 (GRCm39) F120Y possibly damaging Het
Or52e8 T A 7: 104,624,596 (GRCm39) M203L probably benign Het
Or8b56 T A 9: 38,739,511 (GRCm39) C175S probably damaging Het
Or8k32 T C 2: 86,368,492 (GRCm39) T256A possibly damaging Het
Pidd1 T C 7: 141,023,021 (GRCm39) Y57C probably benign Het
Pik3cd T A 4: 149,739,028 (GRCm39) M671L probably benign Het
Ppp5c A G 7: 16,740,885 (GRCm39) V361A probably benign Het
Prune2 T C 19: 17,096,725 (GRCm39) V743A probably benign Het
Siglec1 C A 2: 130,917,889 (GRCm39) S996I possibly damaging Het
Slc12a7 A G 13: 73,957,206 (GRCm39) R948G possibly damaging Het
Smarca4 T A 9: 21,584,638 (GRCm39) probably benign Het
Smg6 C T 11: 74,944,760 (GRCm39) P1109S probably damaging Het
Sorl1 T A 9: 41,975,070 (GRCm39) N513Y probably damaging Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Trim72 T C 7: 127,603,704 (GRCm39) C17R probably damaging Het
Ttc3 T C 16: 94,268,785 (GRCm39) C1956R probably damaging Het
Vmn1r211 G T 13: 23,036,379 (GRCm39) T96N possibly damaging Het
Vmn1r211 C A 13: 23,036,376 (GRCm39) S97I probably damaging Het
Vmn1r211 T A 13: 23,036,377 (GRCm39) S97C probably damaging Het
Vmn2r66 A T 7: 84,644,623 (GRCm39) S596T probably benign Het
Zfp609 A G 9: 65,611,602 (GRCm39) S454P possibly 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
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
R6455:Slc40a1 UTSW 1 45,958,107 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-12-18