Incidental Mutation 'IGL02116:Slc40a1'
ID280397
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 #IGL02116
Quality Score
Status
Chromosome1
Chromosomal Location45908068-45926523 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45911528 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 255 (T255A)
Ref Sequence ENSEMBL: ENSMUSP00000027137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027137]
Predicted Effect probably benign
Transcript: ENSMUST00000027137
AA Change: T255A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: T255A

DomainStartEndE-ValueType
Pfam:FPN1 22 530 5e-194 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190055
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,673,590 N190K possibly damaging Het
Adamts19 T C 18: 58,837,499 S52P probably benign Het
Ahrr G T 13: 74,220,573 H160Q possibly damaging Het
Ap4s1 T C 12: 51,723,050 probably null Het
Atrn T C 2: 130,958,089 V462A probably damaging Het
D630003M21Rik T C 2: 158,203,210 S800G possibly damaging Het
Dach1 T G 14: 97,901,423 N528T probably damaging Het
Foxl2 T C 9: 98,956,058 M133T probably damaging Het
Grsf1 A G 5: 88,670,174 probably null Het
Gtpbp4 A G 13: 8,992,736 I43T probably damaging Het
Helz2 T C 2: 181,232,185 Y2172C probably damaging Het
Hey1 G T 3: 8,666,580 probably null Het
Hnrnph3 A T 10: 63,016,076 probably benign Het
Hps1 A T 19: 42,771,129 Y81* probably null Het
Inhba A G 13: 16,026,972 H373R probably benign Het
Leo1 T A 9: 75,449,415 I359K probably damaging Het
Mcoln3 A G 3: 146,133,909 N339D probably benign Het
Mrpl19 G A 6: 81,965,777 P51S probably benign Het
Nadk C A 4: 155,579,306 probably benign Het
Olfr1167 T A 2: 88,149,288 T244S probably benign Het
Olfr235 A G 19: 12,269,010 Y260C probably damaging Het
Pappa2 T G 1: 158,845,125 I1083L probably benign Het
R3hdm2 A G 10: 127,498,552 D948G probably damaging Het
Rbm15 A T 3: 107,330,280 L934Q probably damaging Het
Rec8 T A 14: 55,624,879 probably null Het
Riok1 A G 13: 38,059,956 E486G possibly damaging Het
Rptn A C 3: 93,395,097 E40A possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc5a8 A T 10: 88,919,500 M490L probably benign Het
Sned1 C A 1: 93,281,725 C62* probably null Het
Sptbn4 T C 7: 27,364,357 T2215A probably benign Het
Synpo T A 18: 60,603,456 R234W probably damaging Het
Tmco3 A T 8: 13,292,706 probably benign Het
Tmprss13 A G 9: 45,333,674 D250G probably benign Het
Vmn2r31 T A 7: 7,394,549 I237F probably damaging Het
Wdr90 A G 17: 25,859,492 V306A probably benign Het
Zfp629 A G 7: 127,612,718 W8R probably damaging Het
Zim1 T C 7: 6,678,254 T137A probably benign 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
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
Posted On2015-04-16