Incidental Mutation 'IGL02435:Hamp'
ID 293257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hamp
Ensembl Gene ENSMUSG00000050440
Gene Name hepcidin antimicrobial peptide
Synonyms Hepc, HEPC1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.034) question?
Stock # IGL02435
Quality Score
Status
Chromosome 7
Chromosomal Location 30641793-30643454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30643324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 29 (Q29K)
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: Q29K

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000055404
Gene: ENSMUSG00000050440
AA Change: Q29K

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: ENSMUST00000171338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206970
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
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph A G 13: 19,323,333 (GRCm39) probably benign Het
Ankrd12 G T 17: 66,294,151 (GRCm39) S427R probably damaging Het
Atp4a A G 7: 30,416,482 (GRCm39) T420A probably benign Het
Braf C T 6: 39,623,700 (GRCm39) S414N probably benign Het
C1rl T C 6: 124,485,832 (GRCm39) L401P probably damaging Het
Ecpas A G 4: 58,830,325 (GRCm39) probably benign Het
Elmo1 A T 13: 20,773,826 (GRCm39) D612V probably damaging Het
Fbxo15 T C 18: 84,977,351 (GRCm39) S88P probably damaging Het
Glrx3 A G 7: 137,063,125 (GRCm39) N132S possibly damaging Het
Igfbp2 G A 1: 72,891,245 (GRCm39) R281Q probably damaging Het
Itih3 C T 14: 30,637,711 (GRCm39) A483T probably damaging Het
Mrc1 C T 2: 14,253,671 (GRCm39) Q231* probably null Het
Nif3l1 A G 1: 58,487,020 (GRCm39) T69A possibly damaging Het
Ntrk1 A G 3: 87,696,039 (GRCm39) F157S probably benign Het
Or2ag1b A G 7: 106,288,710 (GRCm39) V76A probably benign Het
Or4a72 A G 2: 89,405,890 (GRCm39) F60S probably damaging Het
Or5b97 A T 19: 12,878,391 (GRCm39) I251N probably damaging Het
Pck2 T C 14: 55,781,847 (GRCm39) probably benign Het
Pdgfrb T C 18: 61,197,998 (GRCm39) probably null Het
Ric8b A G 10: 84,815,940 (GRCm39) N194S probably benign Het
Rlbp1 A G 7: 79,031,414 (GRCm39) F105L probably damaging Het
Sde2 G T 1: 180,693,717 (GRCm39) K402N probably damaging Het
Slc13a3 T C 2: 165,250,860 (GRCm39) H461R possibly damaging Het
Spag17 A T 3: 99,889,760 (GRCm39) I210F possibly damaging Het
Szt2 G A 4: 118,248,020 (GRCm39) R735W probably damaging Het
Tspan6 T C X: 132,793,493 (GRCm39) Y186C probably benign Het
Ugt8a A G 3: 125,660,969 (GRCm39) S508P probably benign Het
Zfp217 T C 2: 169,961,373 (GRCm39) D318G possibly damaging Het
Other mutations in Hamp
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6325:Hamp UTSW 7 30,643,328 (GRCm39) missense probably benign
R7157:Hamp UTSW 7 30,641,961 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16