Incidental Mutation 'IGL00236:Hfe'
ID 2170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hfe
Ensembl Gene ENSMUSG00000006611
Gene Name homeostatic iron regulator
Synonyms MR2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL00236
Quality Score
Status
Chromosome 13
Chromosomal Location 23886017-23894837 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 23889835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000006787] [ENSMUST00000091706] [ENSMUST00000091707]
AlphaFold P70387
Predicted Effect probably benign
Transcript: ENSMUST00000006787
SMART Domains Protein: ENSMUSP00000006787
Gene: ENSMUSG00000006611

DomainStartEndE-ValueType
IGc1 44 116 1.03e-14 SMART
transmembrane domain 130 152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091706
SMART Domains Protein: ENSMUSP00000089298
Gene: ENSMUSG00000006611

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:MHC_I 30 214 4e-46 PFAM
Pfam:MHC_I_3 53 212 7.4e-12 PFAM
IGc1 232 304 1.03e-14 SMART
transmembrane domain 318 340 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091707
SMART Domains Protein: ENSMUSP00000089299
Gene: ENSMUSG00000006611

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:MHC_I 34 126 7.3e-24 PFAM
IGc1 144 216 1.03e-14 SMART
transmembrane domain 230 252 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151243
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 membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this gene affects iron metabolism. Homozygotes for targeted null mutations exhibit increased intestinal iron absorption and an elevated hepatic iron load but reduced duodenal iron stores. Heterozygotes also accumulate more iron than normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,490,467 (GRCm39) V43A probably damaging Het
Ankrd17 A T 5: 90,381,787 (GRCm39) S2460T probably damaging Het
Ap4e1 T C 2: 126,870,201 (GRCm39) L176P probably damaging Het
Caprin2 A G 6: 148,744,569 (GRCm39) I952T probably damaging Het
Cdkl4 A T 17: 80,832,705 (GRCm39) probably benign Het
Cfap44 T C 16: 44,227,767 (GRCm39) L156P probably damaging Het
Dock9 A G 14: 121,905,880 (GRCm39) L90S probably benign Het
Efhb T C 17: 53,769,481 (GRCm39) D276G probably damaging Het
Ep300 A G 15: 81,525,619 (GRCm39) D1481G unknown Het
Fam83b T C 9: 76,398,260 (GRCm39) I948V probably benign Het
Fbxl5 G T 5: 43,922,678 (GRCm39) H247N probably damaging Het
Fn1 A G 1: 71,692,032 (GRCm39) I37T probably benign Het
Ighv1-36 A T 12: 114,843,770 (GRCm39) L29Q possibly damaging Het
Inpp5e G T 2: 26,298,533 (GRCm39) Q23K probably benign Het
L3mbtl1 T C 2: 162,808,983 (GRCm39) S619P probably damaging Het
Myh8 T C 11: 67,174,644 (GRCm39) I253T probably damaging Het
Ntrk1 C T 3: 87,698,745 (GRCm39) V99M possibly damaging Het
Or51s1 T C 7: 102,558,479 (GRCm39) H189R probably damaging Het
Or5b124 A T 19: 13,610,903 (GRCm39) I143F probably benign Het
Pard6a T C 8: 106,429,446 (GRCm39) S135P probably damaging Het
Prss43 G T 9: 110,658,538 (GRCm39) Q279H probably benign Het
Ptcd2 T C 13: 99,466,573 (GRCm39) N207D probably benign Het
Ros1 T C 10: 52,070,986 (GRCm39) I23V probably benign Het
Scg5 A G 2: 113,657,915 (GRCm39) probably benign Het
Sh3bp5 T A 14: 31,101,347 (GRCm39) K212* probably null Het
Slc25a30 C T 14: 76,004,365 (GRCm39) G244D possibly damaging Het
Slc38a10 T C 11: 119,997,428 (GRCm39) R689G probably damaging Het
Spatc1 A G 15: 76,168,994 (GRCm39) D321G probably damaging Het
Stat4 A T 1: 52,142,037 (GRCm39) Y628F probably damaging Het
Wdr35 G A 12: 9,069,900 (GRCm39) V813I probably benign Het
Other mutations in Hfe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01733:Hfe APN 13 23,890,848 (GRCm39) missense possibly damaging 0.51
IGL02227:Hfe APN 13 23,890,926 (GRCm39) missense probably benign 0.26
IGL02339:Hfe APN 13 23,888,373 (GRCm39) missense probably damaging 0.98
R1669:Hfe UTSW 13 23,890,110 (GRCm39) nonsense probably null
R1704:Hfe UTSW 13 23,888,391 (GRCm39) missense probably damaging 1.00
R4424:Hfe UTSW 13 23,890,866 (GRCm39) missense probably benign 0.06
R4624:Hfe UTSW 13 23,890,061 (GRCm39) nonsense probably null
R4904:Hfe UTSW 13 23,892,037 (GRCm39) missense probably damaging 1.00
R5926:Hfe UTSW 13 23,892,247 (GRCm39) missense probably damaging 0.99
R6246:Hfe UTSW 13 23,892,212 (GRCm39) missense probably damaging 1.00
R6322:Hfe UTSW 13 23,889,879 (GRCm39) missense probably damaging 1.00
R6636:Hfe UTSW 13 23,890,779 (GRCm39) missense possibly damaging 0.88
R6636:Hfe UTSW 13 23,890,778 (GRCm39) missense possibly damaging 0.53
R6637:Hfe UTSW 13 23,890,779 (GRCm39) missense possibly damaging 0.88
R6637:Hfe UTSW 13 23,890,778 (GRCm39) missense possibly damaging 0.53
R7167:Hfe UTSW 13 23,892,052 (GRCm39) missense probably damaging 1.00
R7374:Hfe UTSW 13 23,890,030 (GRCm39) missense probably damaging 0.99
R7816:Hfe UTSW 13 23,888,382 (GRCm39) missense possibly damaging 0.53
R8188:Hfe UTSW 13 23,892,175 (GRCm39) missense probably damaging 1.00
R8807:Hfe UTSW 13 23,889,667 (GRCm39) missense probably benign 0.01
R9057:Hfe UTSW 13 23,889,658 (GRCm39) missense possibly damaging 0.88
R9293:Hfe UTSW 13 23,890,792 (GRCm39) missense probably benign 0.04
R9302:Hfe UTSW 13 23,890,025 (GRCm39) missense probably benign 0.02
R9352:Hfe UTSW 13 23,890,119 (GRCm39) missense probably benign 0.00
Z1177:Hfe UTSW 13 23,890,020 (GRCm39) missense probably damaging 1.00
Posted On 2011-12-09