Incidental Mutation 'IGL02673:Slc40a1'
ID302998
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 #IGL02673
Quality Score
Status
Chromosome1
Chromosomal Location45908068-45926523 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 45918416 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 136 (I136N)
Ref Sequence ENSEMBL: ENSMUSP00000027137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027137] [ENSMUST00000186804] [ENSMUST00000187406] [ENSMUST00000187420]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027137
AA Change: I136N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: I136N

DomainStartEndE-ValueType
Pfam:FPN1 22 530 5e-194 PFAM
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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,157,607 T33S probably benign Het
Abca4 T C 3: 122,103,501 Y610H probably damaging Het
Agl A T 3: 116,781,599 C630S probably benign Het
Alkbh6 G T 7: 30,314,111 G202C probably damaging Het
Ascc3 A T 10: 50,660,673 M701L probably benign Het
Bpgm T A 6: 34,487,834 L162Q probably damaging Het
Ccdc144b A C 3: 36,046,699 probably benign Het
Ccdc150 A G 1: 54,328,990 T592A probably benign Het
Chpf2 G A 5: 24,591,304 R416Q probably benign Het
Col14a1 G A 15: 55,418,782 G813E unknown Het
Col18a1 C T 10: 77,059,163 G983D probably damaging Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Cyp2a22 T G 7: 26,938,100 K157Q probably benign Het
Dhx57 A G 17: 80,267,545 V668A probably damaging Het
Eps8l1 T A 7: 4,478,732 V743E probably damaging Het
Fnbp4 C T 2: 90,763,472 T557M probably benign Het
Fzd5 C T 1: 64,735,106 E499K possibly damaging Het
Il1r2 A G 1: 40,115,163 Y230C probably damaging Het
Insrr A C 3: 87,813,061 E1002A possibly damaging Het
Kdm4a C T 4: 118,168,572 D146N probably benign Het
Kidins220 G A 12: 24,994,992 V262M probably damaging Het
Kif26b C T 1: 178,821,605 P430L probably damaging Het
Mamdc4 T C 2: 25,570,054 S62G probably benign Het
Mcu C A 10: 59,467,644 V124F probably damaging Het
Mlf1 A G 3: 67,393,947 M98V probably benign Het
Mogs T C 6: 83,118,218 V672A probably damaging Het
Ntrk3 T C 7: 78,250,764 D609G probably damaging Het
Olfr351 C T 2: 36,860,176 M57I probably benign Het
Pdlim5 T A 3: 142,352,787 E65D probably damaging Het
Peg3 T C 7: 6,710,414 N603S probably damaging Het
Pkd1 A G 17: 24,571,283 Y980C probably benign Het
Rack1 A G 11: 48,800,530 T23A probably benign Het
Rad50 A T 11: 53,688,240 I497K probably benign Het
Sin3a C A 9: 57,107,441 Q649K probably damaging Het
Sirt6 A G 10: 81,625,837 F46L probably damaging Het
Sspo G T 6: 48,498,775 probably null Het
Sspo G A 6: 48,475,860 R2834H probably damaging Het
Sycp2 T A 2: 178,394,211 T228S possibly damaging Het
Uhrf2 T A 19: 30,092,807 N785K probably damaging Het
Vmn2r58 T A 7: 41,864,658 Y187F possibly damaging Het
Vmn2r80 A G 10: 79,169,484 I318M probably benign Het
Vps13c T C 9: 67,878,098 L249P probably damaging Het
Zw10 T A 9: 49,077,593 probably null Het
Other mutations in Slc40a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Slc40a1 APN 1 45909492 missense probably benign 0.19
IGL01576:Slc40a1 APN 1 45909597 missense probably damaging 1.00
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
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 On2015-04-16