Incidental Mutation 'IGL02342:Hjv'
ID 289137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hjv
Ensembl Gene ENSMUSG00000038403
Gene Name hemojuvelin BMP co-receptor
Synonyms Rgmc, 2310035L15Rik, DL-M, HJV, hemojuvelin, Hfe2, 5230400G09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02342
Quality Score
Status
Chromosome 3
Chromosomal Location 96432488-96436526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96435488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 249 (D249N)
Ref Sequence ENSEMBL: ENSMUSP00000046659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049208]
AlphaFold Q7TQ32
Predicted Effect possibly damaging
Transcript: ENSMUST00000049208
AA Change: D249N

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046659
Gene: ENSMUSG00000038403
AA Change: D249N

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:RGM_N 34 219 6.2e-61 PFAM
Pfam:RGM_C 223 389 4.7e-59 PFAM
transmembrane domain 397 419 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lack of hepcidin expression, severe iron overload and male sterility. Mice homozygous for a different knock-out allele display systemic iron overload, a severe deficit in hepcidin production, overexpression of ferroportin but normal male fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik C A 10: 43,050,997 (GRCm39) P97Q probably damaging Het
Abcb10 A T 8: 124,688,773 (GRCm39) V501E probably damaging Het
Acsf3 T C 8: 123,544,237 (GRCm39) Y572H probably benign Het
Adamts3 A T 5: 89,839,332 (GRCm39) probably null Het
Alox8 A G 11: 69,077,053 (GRCm39) L480P probably damaging Het
Arhgap35 G A 7: 16,296,305 (GRCm39) T920I probably benign Het
Brca2 C A 5: 150,466,289 (GRCm39) L2018M possibly damaging Het
Brdt C A 5: 107,490,069 (GRCm39) H45N probably damaging Het
C1s2 A G 6: 124,609,075 (GRCm39) F155L probably damaging Het
Ccser2 A G 14: 36,640,562 (GRCm39) probably benign Het
Cd8a T A 6: 71,350,723 (GRCm39) C63S probably damaging Het
Clk2 A T 3: 89,082,998 (GRCm39) T424S probably benign Het
Cntn1 A G 15: 92,143,898 (GRCm39) E287G probably benign Het
Cobl A C 11: 12,203,672 (GRCm39) V928G possibly damaging Het
Col12a1 A G 9: 79,557,178 (GRCm39) probably null Het
Crnkl1 A T 2: 145,766,633 (GRCm39) probably null Het
Defb26 T C 2: 152,350,121 (GRCm39) N53S possibly damaging Het
Duox1 A T 2: 122,177,793 (GRCm39) T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 (GRCm39) L1233P probably damaging Het
Eif5a2 A G 3: 28,847,910 (GRCm39) E116G possibly damaging Het
Garin1b A G 6: 29,323,829 (GRCm39) T185A possibly damaging Het
Gdap2 G A 3: 100,085,632 (GRCm39) A185T probably damaging Het
Grm8 T C 6: 27,363,803 (GRCm39) R571G probably benign Het
Hsp90b1 T C 10: 86,531,603 (GRCm39) probably null Het
Ift70a1 G T 2: 75,810,976 (GRCm39) T369K probably benign Het
Ighv1-75 T G 12: 115,797,878 (GRCm39) probably benign Het
Ikzf1 A G 11: 11,650,216 (GRCm39) probably benign Het
Itprid2 A G 2: 79,490,629 (GRCm39) N943S probably benign Het
Kdm4d A G 9: 14,374,860 (GRCm39) W333R probably damaging Het
Lama3 A T 18: 12,624,533 (GRCm39) N1426I probably damaging Het
Lmbrd1 A G 1: 24,743,959 (GRCm39) Y119C probably damaging Het
Mctp1 A G 13: 77,172,976 (GRCm39) Y884C probably damaging Het
Naip6 G T 13: 100,439,748 (GRCm39) P340T possibly damaging Het
Nfkbib G T 7: 28,461,528 (GRCm39) H70N probably damaging Het
Nol4 A T 18: 22,903,926 (GRCm39) probably benign Het
Obscn C T 11: 58,891,914 (GRCm39) A6873T probably benign Het
Or2ag1 A G 7: 106,313,232 (GRCm39) S219P probably benign Het
Or51b4 T A 7: 103,530,587 (GRCm39) I288F probably benign Het
Or6x1 T A 9: 40,098,823 (GRCm39) N137K probably benign Het
Paqr6 A G 3: 88,273,491 (GRCm39) Y136C probably damaging Het
Pcdh18 T A 3: 49,710,493 (GRCm39) D274V probably damaging Het
Phip A G 9: 82,768,745 (GRCm39) Y1196H probably damaging Het
Prc1 T C 7: 79,959,190 (GRCm39) L345S probably damaging Het
Smpdl3a A G 10: 57,685,276 (GRCm39) probably benign Het
Tac1 G T 6: 7,559,119 (GRCm39) probably null Het
Tasor T A 14: 27,198,624 (GRCm39) S1319T possibly damaging Het
Tg A G 15: 66,636,140 (GRCm39) T576A probably benign Het
Thbs2 A T 17: 14,896,578 (GRCm39) D770E probably damaging Het
Tmem117 T C 15: 94,909,331 (GRCm39) V248A possibly damaging Het
Trpm8 T C 1: 88,255,972 (GRCm39) I209T possibly damaging Het
Wrap53 A G 11: 69,454,417 (GRCm39) F244L probably damaging Het
Wrap73 A T 4: 154,233,237 (GRCm39) Q137L probably benign Het
Zfhx4 A T 3: 5,467,434 (GRCm39) T2531S probably benign Het
Other mutations in Hjv
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01671:Hjv APN 3 96,435,807 (GRCm39) missense probably damaging 1.00
IGL03083:Hjv APN 3 96,435,922 (GRCm39) missense probably benign 0.41
PIT4354001:Hjv UTSW 3 96,435,761 (GRCm39) missense probably damaging 1.00
PIT4504001:Hjv UTSW 3 96,435,813 (GRCm39) missense probably damaging 1.00
R4602:Hjv UTSW 3 96,434,869 (GRCm39) missense probably benign 0.02
R5475:Hjv UTSW 3 96,434,599 (GRCm39) missense probably benign 0.19
R5761:Hjv UTSW 3 96,435,938 (GRCm39) missense probably benign 0.00
R7044:Hjv UTSW 3 96,434,790 (GRCm39) missense possibly damaging 0.58
R7117:Hjv UTSW 3 96,435,542 (GRCm39) missense possibly damaging 0.95
R7206:Hjv UTSW 3 96,435,444 (GRCm39) missense probably damaging 1.00
R8934:Hjv UTSW 3 96,433,909 (GRCm39) missense probably damaging 1.00
R9177:Hjv UTSW 3 96,435,881 (GRCm39) missense probably benign 0.33
R9253:Hjv UTSW 3 96,435,710 (GRCm39) missense probably benign 0.00
R9260:Hjv UTSW 3 96,435,579 (GRCm39) missense probably damaging 0.96
R9268:Hjv UTSW 3 96,435,881 (GRCm39) missense probably benign 0.33
Z1177:Hjv UTSW 3 96,435,403 (GRCm39) missense probably benign 0.12
Z1177:Hjv UTSW 3 96,434,513 (GRCm39) missense possibly damaging 0.88
Posted On 2015-04-16