Incidental Mutation 'IGL02227:Hfe'
ID 285611
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 # IGL02227
Quality Score
Status
Chromosome 13
Chromosomal Location 23886017-23894837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23890926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 71 (E71G)
Ref Sequence ENSEMBL: ENSMUSP00000089299 (fasta)
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
AA Change: E159G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000089298
Gene: ENSMUSG00000006611
AA Change: E159G

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
AA Change: E71G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000089299
Gene: ENSMUSG00000006611
AA Change: E71G

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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 A G 8: 46,987,402 (GRCm39) E662G probably benign Het
Acss3 A G 10: 106,881,196 (GRCm39) S262P probably benign Het
Agap1 T C 1: 89,591,497 (GRCm39) V263A probably damaging Het
Ap3b2 A G 7: 81,123,152 (GRCm39) L454P probably damaging Het
Arrdc1 A T 2: 24,816,164 (GRCm39) F280I possibly damaging Het
Atp8b1 G T 18: 64,695,261 (GRCm39) H485N probably benign Het
Atrip A G 9: 108,890,732 (GRCm39) S91P possibly damaging Het
Bcorl1 T C X: 47,458,237 (GRCm39) V590A probably benign Het
Brf1 C A 12: 112,925,394 (GRCm39) R590S probably damaging Het
Ccdc18 A T 5: 108,296,788 (GRCm39) D197V possibly damaging Het
Ccr6 T C 17: 8,475,284 (GRCm39) V163A probably damaging Het
Cct6b T C 11: 82,632,217 (GRCm39) E257G probably damaging Het
Cdc42bpa A G 1: 179,921,989 (GRCm39) D564G possibly damaging Het
Cdh2 C T 18: 16,762,643 (GRCm39) V434I probably benign Het
Cfap410 A G 10: 77,818,784 (GRCm39) N152D possibly damaging Het
Cltc C T 11: 86,588,166 (GRCm39) V1610M possibly damaging Het
Cnot4 A G 6: 35,028,198 (GRCm39) F473L probably benign Het
Dock3 T C 9: 106,939,254 (GRCm39) K165E probably damaging Het
Duox2 A T 2: 122,115,634 (GRCm39) probably benign Het
Epha7 A G 4: 28,821,587 (GRCm39) S251G possibly damaging Het
Epn1 T A 7: 5,098,035 (GRCm39) V282E probably benign Het
Fat1 T C 8: 45,476,696 (GRCm39) L1914P probably damaging Het
Fbln2 T C 6: 91,233,349 (GRCm39) I611T possibly damaging Het
Fgd6 G T 10: 93,969,946 (GRCm39) M1198I probably damaging Het
Frmpd4 T A X: 166,275,931 (GRCm39) I379F probably damaging Het
Grk4 T A 5: 34,852,126 (GRCm39) D123E probably benign Het
Hc T G 2: 34,899,923 (GRCm39) probably benign Het
Hephl1 T C 9: 14,981,089 (GRCm39) Y781C probably damaging Het
Hk1 A G 10: 62,116,919 (GRCm39) probably benign Het
Ifnk G A 4: 35,152,642 (GRCm39) probably benign Het
Kcnv1 C A 15: 44,977,670 (GRCm39) G123C probably damaging Het
Klhl38 A T 15: 58,186,633 (GRCm39) I32N possibly damaging Het
Lpl T C 8: 69,348,452 (GRCm39) V227A probably damaging Het
Lurap1l A T 4: 80,872,094 (GRCm39) S196C probably damaging Het
Mta1 T C 12: 113,084,528 (GRCm39) L91P possibly damaging Het
Nelfe C A 17: 35,073,330 (GRCm39) D288E probably benign Het
Or5p1 T A 7: 107,916,408 (GRCm39) C102* probably null Het
Otof T C 5: 30,528,128 (GRCm39) E1905G probably damaging Het
Pck2 T C 14: 55,781,323 (GRCm39) I148T probably benign Het
Plcl2 G T 17: 50,913,425 (GRCm39) V145F probably damaging Het
Plec A G 15: 76,056,474 (GRCm39) S4510P probably damaging Het
Plxna2 A G 1: 194,434,397 (GRCm39) E641G probably damaging Het
Poglut3 T C 9: 53,299,779 (GRCm39) L96S probably damaging Het
Ppp1r12a C T 10: 108,105,185 (GRCm39) T434M probably damaging Het
Ppp6r3 A T 19: 3,568,245 (GRCm39) N184K possibly damaging Het
Prkar1a G A 11: 109,551,001 (GRCm39) probably benign Het
Psmb1 A T 17: 15,710,546 (GRCm39) M1K probably null Het
Pwwp2a T C 11: 43,596,448 (GRCm39) S538P possibly damaging Het
Rbm25 C T 12: 83,719,527 (GRCm39) R516W probably damaging Het
Rnf103 A G 6: 71,487,172 (GRCm39) D601G probably benign Het
Senp3 A G 11: 69,565,356 (GRCm39) V467A possibly damaging Het
Slc8a3 T G 12: 81,362,457 (GRCm39) T121P probably damaging Het
Slco1a8 A T 6: 141,939,401 (GRCm39) C197* probably null Het
Srrt G A 5: 137,294,536 (GRCm39) T790M probably damaging Het
Ssc5d T C 7: 4,936,453 (GRCm39) probably null Het
Tas2r129 G A 6: 132,928,357 (GRCm39) W98* probably null Het
Thoc5 A C 11: 4,876,217 (GRCm39) M609L probably benign Het
Tnip1 G A 11: 54,827,297 (GRCm39) T155M possibly damaging Het
Ttn A G 2: 76,618,672 (GRCm39) V14458A probably benign Het
Unc5cl A G 17: 48,766,809 (GRCm39) E61G probably benign Het
Usp32 T C 11: 84,877,307 (GRCm39) K151E probably damaging Het
Vmn2r121 T C X: 123,042,378 (GRCm39) M260V probably benign Het
Vwa7 G T 17: 35,239,060 (GRCm39) R345L probably damaging Het
Zfp366 G T 13: 99,370,696 (GRCm39) R472L possibly damaging Het
Zfp811 A T 17: 33,017,616 (GRCm39) Y141* probably null Het
Zpbp C T 11: 11,365,248 (GRCm39) E200K probably benign Het
Other mutations in Hfe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Hfe APN 13 23,889,835 (GRCm39) unclassified probably benign
IGL01733:Hfe APN 13 23,890,848 (GRCm39) missense possibly damaging 0.51
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 2015-04-16