Incidental Mutation 'R6322:Hfe'
ID 510169
Institutional Source Beutler Lab
Gene Symbol Hfe
Ensembl Gene ENSMUSG00000006611
Gene Name homeostatic iron regulator
Synonyms MR2
MMRRC Submission 044476-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6322 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 23886017-23894837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23889879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 210 (H210L)
Ref Sequence ENSEMBL: ENSMUSP00000089299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006787] [ENSMUST00000091706] [ENSMUST00000091707]
AlphaFold P70387
Predicted Effect probably damaging
Transcript: ENSMUST00000006787
AA Change: H110L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006787
Gene: ENSMUSG00000006611
AA Change: H110L

DomainStartEndE-ValueType
IGc1 44 116 1.03e-14 SMART
transmembrane domain 130 152 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000091706
AA Change: H298L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089298
Gene: ENSMUSG00000006611
AA Change: H298L

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 damaging
Transcript: ENSMUST00000091707
AA Change: H210L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089299
Gene: ENSMUSG00000006611
AA Change: H210L

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
Meta Mutation Damage Score 0.9569 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 98% (51/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,559,843 (GRCm39) V211A probably benign Het
Adora3 G A 3: 105,814,760 (GRCm39) R170H probably benign Het
Aldh1l1 T C 6: 90,539,680 (GRCm39) I203T probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Atcay A T 10: 81,049,125 (GRCm39) I159K probably damaging Het
Blvra A G 2: 126,922,459 (GRCm39) probably benign Het
Catspere2 T A 1: 177,845,296 (GRCm39) Y105* probably null Het
Celsr2 A G 3: 108,319,890 (GRCm39) F974S probably damaging Het
Cfap44 C T 16: 44,254,029 (GRCm39) R918* probably null Het
Cpa6 T A 1: 10,547,346 (GRCm39) R181S possibly damaging Het
Dlg1 A G 16: 31,675,297 (GRCm39) N730D probably damaging Het
Eif2ak1 A G 5: 143,835,913 (GRCm39) T535A probably benign Het
Fam13c A T 10: 70,334,721 (GRCm39) D149V probably damaging Het
Fam171a1 G A 2: 3,227,392 (GRCm39) V717I probably benign Het
Fchsd1 A G 18: 38,098,753 (GRCm39) V290A probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm15446 A T 5: 110,091,383 (GRCm39) H545L probably damaging Het
Heatr9 T G 11: 83,407,538 (GRCm39) K215T possibly damaging Het
Lama2 T C 10: 27,066,543 (GRCm39) T1113A probably damaging Het
Lipe A T 7: 25,079,961 (GRCm39) V686E probably damaging Het
Map3k20 T G 2: 72,263,814 (GRCm39) L488V possibly damaging Het
Moxd1 C T 10: 24,160,709 (GRCm39) T454I probably damaging Het
Mrpl58 C T 11: 115,301,492 (GRCm39) R189* probably null Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nkx1-1 T C 5: 33,588,389 (GRCm39) N300D probably damaging Het
Nrm A T 17: 36,175,605 (GRCm39) Q237L possibly damaging Het
Numa1 T C 7: 101,650,127 (GRCm39) L1286P probably damaging Het
Or4f4-ps1 T C 2: 111,329,729 (GRCm39) F44S possibly damaging Het
Pappa C A 4: 65,232,896 (GRCm39) A1345D probably damaging Het
Pds5a T C 5: 65,854,177 (GRCm39) I22V probably benign Het
Phf21b C A 15: 84,671,580 (GRCm39) R438L possibly damaging Het
Pik3r5 T C 11: 68,383,567 (GRCm39) L462P probably benign Het
Plagl2 T C 2: 153,073,806 (GRCm39) E365G probably benign Het
Plxna2 A G 1: 194,436,675 (GRCm39) Y677C possibly damaging Het
Pramel13 A G 4: 144,119,475 (GRCm39) M364T probably benign Het
Prkcd C A 14: 30,321,620 (GRCm39) G410W probably damaging Het
Rgl1 T C 1: 152,428,186 (GRCm39) I348V probably damaging Het
Rnmt C T 18: 68,452,285 (GRCm39) P386S probably damaging Het
Rtn3 G A 19: 7,435,503 (GRCm39) P163L possibly damaging Het
Sfxn1 T C 13: 54,258,869 (GRCm39) C275R possibly damaging Het
Sh2b2 A G 5: 136,253,042 (GRCm39) S377P probably damaging Het
Sh3bp1 C T 15: 78,795,715 (GRCm39) P615S probably damaging Het
Simc1 T C 13: 54,698,382 (GRCm39) L1334S probably damaging Het
Slc9a2 C A 1: 40,781,813 (GRCm39) Y347* probably null Het
Snapc5 T A 9: 64,089,455 (GRCm39) I71K probably damaging Het
Tmem161a T C 8: 70,634,764 (GRCm39) F447S probably damaging Het
Tns3 A G 11: 8,442,147 (GRCm39) C739R probably benign Het
Trappc11 A T 8: 47,983,808 (GRCm39) V28D possibly damaging Het
Ubr3 C T 2: 69,786,429 (GRCm39) Q848* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S 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
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
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
Predicted Primers PCR Primer
(F):5'- TGACTCCACTGATGATTCCG -3'
(R):5'- TCTCTAAGGTGTCAGGCTCTGG -3'

Sequencing Primer
(F):5'- CCGATAATCATGGCCTGAGATTGC -3'
(R):5'- CTAAGGTGTCAGGCTCTGGACTTC -3'
Posted On 2018-04-02