Incidental Mutation 'R9057:Hfe'
ID 688768
Institutional Source Beutler Lab
Gene Symbol Hfe
Ensembl Gene ENSMUSG00000006611
Gene Name homeostatic iron regulator
Synonyms MR2
MMRRC Submission 068883-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R9057 (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 23889658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 330 (I330F)
Ref Sequence ENSEMBL: ENSMUSP00000089298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006787] [ENSMUST00000091706] [ENSMUST00000091707]
AlphaFold P70387
Predicted Effect possibly damaging
Transcript: ENSMUST00000006787
AA Change: I142F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000006787
Gene: ENSMUSG00000006611
AA Change: I142F

DomainStartEndE-ValueType
IGc1 44 116 1.03e-14 SMART
transmembrane domain 130 152 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000091706
AA Change: I330F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000089298
Gene: ENSMUSG00000006611
AA Change: I330F

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 possibly damaging
Transcript: ENSMUST00000091707
AA Change: I242F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000089299
Gene: ENSMUSG00000006611
AA Change: I242F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T A 9: 63,524,782 (GRCm39) probably benign Het
Abca2 G A 2: 25,331,584 (GRCm39) D1324N probably benign Het
Acat1 C T 9: 53,503,300 (GRCm39) G180R probably damaging Het
AI837181 A C 19: 5,476,730 (GRCm39) T298P probably damaging Het
Alms1 T A 6: 85,586,814 (GRCm39) D556E unknown Het
Ankle1 T A 8: 71,858,961 (GRCm39) W65R probably benign Het
Ano5 A G 7: 51,203,654 (GRCm39) N234S probably benign Het
Asb7 T A 7: 66,309,395 (GRCm39) probably benign Het
Atad2b T A 12: 5,068,102 (GRCm39) C1033* probably null Het
B4galnt1 A G 10: 127,006,999 (GRCm39) D452G probably damaging Het
B4gat1 G T 19: 5,089,056 (GRCm39) A18S possibly damaging Het
Bard1 A G 1: 71,069,807 (GRCm39) Y724H probably damaging Het
Bcl9 A T 3: 97,112,306 (GRCm39) M1383K possibly damaging Het
Cenpt C A 8: 106,576,405 (GRCm39) *43L probably null Het
Ces2f C A 8: 105,674,744 (GRCm39) H49N probably benign Het
Col17a1 A T 19: 47,637,522 (GRCm39) D1245E probably damaging Het
Col19a1 G T 1: 24,549,962 (GRCm39) H312N unknown Het
Cyb5d2 C T 11: 72,679,924 (GRCm39) E124K probably benign Het
Dnah5 C T 15: 28,391,014 (GRCm39) A3291V probably damaging Het
Exo5 A T 4: 120,779,186 (GRCm39) D226E probably damaging Het
Ggt6 C T 11: 72,328,067 (GRCm39) T189M probably damaging Het
Gm5592 C A 7: 40,938,887 (GRCm39) S723Y possibly damaging Het
Golga3 C T 5: 110,332,465 (GRCm39) T133M probably damaging Het
Heatr5a C T 12: 51,986,420 (GRCm39) E598K probably damaging Het
Htt A G 5: 35,009,454 (GRCm39) I1478M possibly damaging Het
Igf1r T C 7: 67,833,186 (GRCm39) F449L probably damaging Het
Ints4 T C 7: 97,158,987 (GRCm39) V453A possibly damaging Het
Ints6 A G 14: 62,951,740 (GRCm39) probably null Het
Klrh1 T A 6: 129,752,803 (GRCm39) M1L probably benign Het
Kpna4 G A 3: 69,002,018 (GRCm39) T248M probably damaging Het
Lactb T C 9: 66,874,977 (GRCm39) I372V possibly damaging Het
Mib1 T A 18: 10,795,728 (GRCm39) D696E possibly damaging Het
Mpzl3 G A 9: 44,979,592 (GRCm39) R181Q probably damaging Het
Mup12 A T 4: 60,696,779 (GRCm39) I33N probably damaging Het
Myh10 A G 11: 68,656,011 (GRCm39) I502V possibly damaging Het
Nacad C A 11: 6,550,876 (GRCm39) V772F possibly damaging Het
Nbeal2 G T 9: 110,456,218 (GRCm39) T2417N probably benign Het
Nif3l1 A G 1: 58,489,648 (GRCm39) D179G probably benign Het
Or2ag17 A T 7: 106,389,296 (GRCm39) V304D probably damaging Het
Or6e1 T C 14: 54,520,148 (GRCm39) E68G probably damaging Het
Pan2 A T 10: 128,156,141 (GRCm39) H1133L probably damaging Het
Pgk2 A G 17: 40,518,735 (GRCm39) V231A possibly damaging Het
Psmd12 G A 11: 107,377,328 (GRCm39) R129Q probably null Het
Rpl23a G A 11: 78,072,021 (GRCm39) R139C probably benign Het
Sars2 G T 7: 28,446,246 (GRCm39) Q158H Het
Scd3 C T 19: 44,224,340 (GRCm39) P191L probably damaging Het
Serac1 C A 17: 6,111,890 (GRCm39) S262I probably damaging Het
Sh3bp1 A G 15: 78,794,209 (GRCm39) T526A probably benign Het
Slc26a3 A T 12: 31,520,958 (GRCm39) T721S probably benign Het
Slc8a1 A C 17: 81,955,479 (GRCm39) S520A probably benign Het
Sp9 A T 2: 73,103,613 (GRCm39) S56C probably damaging Het
Spire2 T A 8: 124,095,547 (GRCm39) probably benign Het
Syne2 T G 12: 75,937,167 (GRCm39) L255R probably damaging Het
Tcp11l1 A G 2: 104,528,026 (GRCm39) I156T probably damaging Het
Tnrc6b G A 15: 80,763,349 (GRCm39) A284T probably benign Het
Trappc14 A T 5: 138,260,949 (GRCm39) V232E probably damaging Het
Tsc1 T A 2: 28,575,874 (GRCm39) L919H probably damaging Het
Vps13c T A 9: 67,828,209 (GRCm39) H1454Q probably benign Het
Vps41 T A 13: 19,027,702 (GRCm39) D537E probably benign Het
Wnt16 T A 6: 22,288,823 (GRCm39) C47S probably damaging Het
Zfhx2 C T 14: 55,310,027 (GRCm39) E840K possibly damaging Het
Zfp61 A T 7: 23,990,702 (GRCm39) V483E probably benign Het
Zfp870 A T 17: 33,102,793 (GRCm39) S179T 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
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
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'- AGATGGGCTGGCACTTTCAAC -3'
(R):5'- GTTCACCTGTCAAGTGGAGCAC -3'

Sequencing Primer
(F):5'- CACAAAAAGCACAGTGAGGGTTTC -3'
(R):5'- TGGACCAGCCTCTCACTG -3'
Posted On 2021-11-19