Incidental Mutation 'IGL01576:Slc40a1'
ID91256
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc40a1
Ensembl Gene ENSMUSG00000025993
Gene Namesolute carrier family 40 (iron-regulated transporter), member 1
SynonymsDusg, metal transporting protein 1, Ol5, ferroportin1, IREG1, Slc11a3, FPN1, Pcm, MTP1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01576
Quality Score
Status
Chromosome1
Chromosomal Location45908068-45926523 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45909597 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 508 (I508F)
Ref Sequence ENSEMBL: ENSMUSP00000027137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027137]
Predicted Effect probably damaging
Transcript: ENSMUST00000027137
AA Change: I508F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: I508F

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,554,330 probably benign Het
Ank3 A G 10: 69,980,291 E541G probably damaging Het
Arhgef5 A T 6: 43,274,028 D571V probably benign Het
Birc6 A G 17: 74,677,370 N4459S possibly damaging Het
Brsk2 T C 7: 141,981,555 I38T possibly damaging Het
Cacna2d4 A T 6: 119,281,641 R563* probably null Het
Car7 T A 8: 104,549,548 probably null Het
Chml T C 1: 175,687,705 T217A probably benign Het
Dnah7b T G 1: 46,268,653 N3042K probably damaging Het
Efcab2 T G 1: 178,437,392 probably benign Het
Espn T C 4: 152,123,717 E397G probably damaging Het
Fam20c A G 5: 138,807,339 T443A probably damaging Het
Fam221b T C 4: 43,666,227 E128G probably benign Het
Fat4 A G 3: 38,888,947 D663G probably damaging Het
Fndc10 T A 4: 155,694,976 V159D probably benign Het
Gm14496 A G 2: 181,991,371 Y49C possibly damaging Het
Gpr63 G T 4: 25,008,445 D390Y possibly damaging Het
Herc2 G A 7: 56,226,661 probably null Het
Igdcc3 A G 9: 65,177,870 T199A probably damaging Het
Ireb2 T C 9: 54,892,510 Y412H probably damaging Het
Lpin3 T C 2: 160,897,127 V285A probably benign Het
Mdga1 T C 17: 29,843,127 S443G possibly damaging Het
Med22 C T 2: 26,908,992 probably null Het
Mpp6 G A 6: 50,163,492 R164Q probably benign Het
Olfr1356 G T 10: 78,847,373 L181I possibly damaging Het
Pcnt T G 10: 76,368,822 D2583A probably damaging Het
Pkn3 G A 2: 30,087,042 R598Q probably damaging Het
Pnpla7 T C 2: 25,016,563 V646A probably damaging Het
Podxl A T 6: 31,524,384 V412D probably damaging Het
Rad51ap1 A T 6: 126,928,160 S129R probably damaging Het
Relb T C 7: 19,612,601 I349V probably benign Het
Rorb C T 19: 18,957,334 G224D probably damaging Het
Tanc1 G A 2: 59,797,735 V619M probably damaging Het
Tgm7 A T 2: 121,101,033 D216E probably damaging Het
Tmem132e A G 11: 82,438,374 D493G probably damaging Het
Zfp110 T A 7: 12,849,671 C749S probably damaging Het
Zscan4d T C 7: 11,162,592 N284D possibly damaging Het
Other mutations in Slc40a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Slc40a1 APN 1 45909492 missense probably benign 0.19
IGL02113:Slc40a1 APN 1 45910894 missense probably benign 0.33
IGL02116:Slc40a1 APN 1 45911528 missense probably benign 0.01
IGL02220:Slc40a1 APN 1 45911335 missense probably damaging 1.00
IGL02537:Slc40a1 APN 1 45911393 missense probably benign 0.01
IGL02574:Slc40a1 APN 1 45912374 missense possibly damaging 0.77
IGL02673:Slc40a1 APN 1 45918416 missense possibly damaging 0.82
IGL02794:Slc40a1 APN 1 45909508 nonsense probably null
R0376:Slc40a1 UTSW 1 45912491 splice site probably benign
R0417:Slc40a1 UTSW 1 45911374 missense possibly damaging 0.50
R1608:Slc40a1 UTSW 1 45911297 missense probably damaging 0.96
R1723:Slc40a1 UTSW 1 45924761 missense probably damaging 1.00
R1892:Slc40a1 UTSW 1 45911142 nonsense probably null
R2092:Slc40a1 UTSW 1 45909454 missense probably benign
R2303:Slc40a1 UTSW 1 45910884 splice site probably benign
R2365:Slc40a1 UTSW 1 45924713 splice site probably null
R3718:Slc40a1 UTSW 1 45910991 missense probably benign
R4689:Slc40a1 UTSW 1 45912313 missense probably benign 0.00
R4994:Slc40a1 UTSW 1 45909664 missense probably damaging 1.00
R5103:Slc40a1 UTSW 1 45918995 nonsense probably null
R5151:Slc40a1 UTSW 1 45911356 missense possibly damaging 0.84
R5364:Slc40a1 UTSW 1 45925223 missense probably damaging 0.96
R5404:Slc40a1 UTSW 1 45912328 missense probably damaging 1.00
R5531:Slc40a1 UTSW 1 45912338 missense probably damaging 1.00
R5841:Slc40a1 UTSW 1 45912349 missense probably damaging 1.00
R6440:Slc40a1 UTSW 1 45925262 start codon destroyed probably null 0.94
R6455:Slc40a1 UTSW 1 45918947 missense probably damaging 0.99
R6975:Slc40a1 UTSW 1 45909492 missense probably benign 0.19
R7085:Slc40a1 UTSW 1 45911528 missense probably benign
R7130:Slc40a1 UTSW 1 45921224 missense probably damaging 1.00
R7502:Slc40a1 UTSW 1 45918974 missense probably damaging 1.00
R7755:Slc40a1 UTSW 1 45911306 missense probably damaging 0.99
R8085:Slc40a1 UTSW 1 45918368 missense probably damaging 1.00
R8218:Slc40a1 UTSW 1 45910969 missense probably benign 0.03
R8308:Slc40a1 UTSW 1 45911020 missense probably benign 0.02
R8333:Slc40a1 UTSW 1 45911279 missense probably damaging 0.97
Posted On2013-12-09