Incidental Mutation 'R6325:Hamp'
ID 510236
Institutional Source Beutler Lab
Gene Symbol Hamp
Ensembl Gene ENSMUSG00000050440
Gene Name hepcidin antimicrobial peptide
Synonyms Hepc, HEPC1
MMRRC Submission 044479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.034) question?
Stock # R6325 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 30641793-30643454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 30643328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 27 (H27Q)
Ref Sequence ENSEMBL: ENSMUSP00000055404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058860] [ENSMUST00000062620] [ENSMUST00000108119] [ENSMUST00000162228] [ENSMUST00000172417] [ENSMUST00000170699]
AlphaFold Q9EQ21
Predicted Effect probably benign
Transcript: ENSMUST00000058860
SMART Domains Protein: ENSMUSP00000132256
Gene: ENSMUSG00000058239

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 86 110 N/A INTRINSIC
HLH 241 296 1.36e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000062620
AA Change: H27Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055404
Gene: ENSMUSG00000050440
AA Change: H27Q

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Hepcidin 32 83 3.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108119
SMART Domains Protein: ENSMUSP00000132021
Gene: ENSMUSG00000058239

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
HLH 174 229 1.36e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162228
SMART Domains Protein: ENSMUSP00000125520
Gene: ENSMUSG00000058239

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 86 110 N/A INTRINSIC
HLH 214 269 1.36e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171338
Predicted Effect probably benign
Transcript: ENSMUST00000170442
SMART Domains Protein: ENSMUSP00000130298
Gene: ENSMUSG00000058239

DomainStartEndE-ValueType
low complexity region 41 65 N/A INTRINSIC
HLH 196 243 1.83e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172417
SMART Domains Protein: ENSMUSP00000132833
Gene: ENSMUSG00000058239

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
HLH 110 165 1.36e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170699
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (30/30)
MGI Phenotype FUNCTION: This gene encodes hepcidin, an antimicrobial peptide and master hormonal regulator of systemic iron metabolism. The encoded preproprotein is synthesized in the hepatocytes where it undergoes proteolytic processing to generate disulfide-linked mature peptides that are secreted into the bloodstream. Mice lacking the encoded protein develop multivisceral iron overlaod, with sparing of the spleen macrophages. Certain mutations in the human ortholog of this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis. This gene is located adjacent to a related hepcidin gene on chromosome 7. [provided by RefSeq, Aug 2016]
PHENOTYPE: Null mutations in this gene result in abnormal iron homeostasis, with massive iron accumulation observed in the liver, pancreas, and heart of mice. Serum iron content is also elevated, while splenic iron content is significantly decreased compared to wild type. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,964,944 (GRCm39) I596T probably benign Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Birc7 G A 2: 180,571,243 (GRCm39) D102N probably benign Het
Cct8 A C 16: 87,292,615 (GRCm39) probably null Het
Cntn5 T C 9: 10,144,328 (GRCm39) probably null Het
Cyp11a1 A G 9: 57,932,851 (GRCm39) N396D probably benign Het
Dip2b T C 15: 100,052,163 (GRCm39) S255P probably benign Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Fancm T A 12: 65,171,826 (GRCm39) M1822K probably damaging Het
Far2 T C 6: 148,058,995 (GRCm39) V227A probably benign Het
Fbrsl1 A G 5: 110,525,273 (GRCm39) F100L probably damaging Het
Gpd2 T C 2: 57,194,408 (GRCm39) S104P probably damaging Het
Grp T C 18: 66,006,824 (GRCm39) probably null Het
Hecw1 T A 13: 14,491,031 (GRCm39) S241C probably damaging Het
Itsn2 T A 12: 4,756,351 (GRCm39) I1349N probably damaging Het
Nr4a2 A G 2: 57,002,430 (GRCm39) Y8H probably damaging Het
Or2ak7 T A 11: 58,575,354 (GRCm39) Y218* probably null Het
Or2w1 A T 13: 21,317,245 (GRCm39) Q100L probably damaging Het
Pla2g2e T C 4: 138,607,736 (GRCm39) Y39H probably damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prss1l T C 6: 41,373,590 (GRCm39) V151A probably benign Het
Ptpn20 A T 14: 33,352,962 (GRCm39) T234S possibly damaging Het
Smarca2 T A 19: 26,655,763 (GRCm39) V810E probably damaging Het
Taar2 A T 10: 23,816,615 (GRCm39) M52L probably benign Het
Tex47 A T 5: 7,354,935 (GRCm39) R39* probably null Het
Tnxb T A 17: 34,911,398 (GRCm39) V1567D probably damaging Het
Ttll6 T C 11: 96,026,331 (GRCm39) Y79H probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp462 C T 4: 55,080,680 (GRCm39) T1344I probably benign Het
Zfp804a A T 2: 82,087,382 (GRCm39) I404L possibly damaging Het
Other mutations in Hamp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02435:Hamp APN 7 30,643,324 (GRCm39) missense probably benign 0.25
R2148:Hamp UTSW 7 30,642,137 (GRCm39) missense possibly damaging 0.88
R4763:Hamp UTSW 7 30,641,989 (GRCm39) missense probably damaging 0.97
R7157:Hamp UTSW 7 30,641,961 (GRCm39) missense possibly damaging 0.93
Predicted Primers
Posted On 2018-04-02