Incidental Mutation 'R9177:Hjv'
ID 696732
Institutional Source Beutler Lab
Gene Symbol Hjv
Ensembl Gene ENSMUSG00000038403
Gene Name hemojuvelin BMP co-receptor
Synonyms Rgmc, 2310035L15Rik, DL-M, HJV, hemojuvelin, Hfe2, 5230400G09Rik
MMRRC Submission 068949-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9177 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 96432488-96436526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96435881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 380 (F380L)
Ref Sequence ENSEMBL: ENSMUSP00000046659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049208]
AlphaFold Q7TQ32
Predicted Effect probably benign
Transcript: ENSMUST00000049208
AA Change: F380L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046659
Gene: ENSMUSG00000038403
AA Change: F380L

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,775,677 (GRCm39) V1622D probably damaging Het
Acadsb C T 7: 131,033,763 (GRCm39) T260I probably damaging Het
Acap2 A T 16: 30,955,392 (GRCm39) V161E probably damaging Het
Alk T C 17: 72,181,190 (GRCm39) T1367A probably damaging Het
Atg2a A C 19: 6,291,905 (GRCm39) H27P probably damaging Het
Atp2c1 C T 9: 105,336,858 (GRCm39) probably null Het
C1s1 T G 6: 124,508,362 (GRCm39) K542N probably damaging Het
Camk1d A G 2: 5,303,901 (GRCm39) S351P probably benign Het
Carf C A 1: 60,148,558 (GRCm39) Q85K possibly damaging Het
Caskin2 T C 11: 115,698,683 (GRCm39) N43S probably damaging Het
Cd40 T C 2: 164,905,465 (GRCm39) C161R probably damaging Het
Cdh19 A G 1: 110,877,111 (GRCm39) F76S probably damaging Het
Cdkl1 T C 12: 69,794,100 (GRCm39) N346D probably benign Het
Cdon A G 9: 35,381,230 (GRCm39) D540G probably benign Het
Cep164 T A 9: 45,691,060 (GRCm39) E379V probably damaging Het
Clock T C 5: 76,377,256 (GRCm39) N681S probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col6a5 T G 9: 105,808,152 (GRCm39) K965N unknown Het
Dctn4 T A 18: 60,659,304 (GRCm39) M1K probably null Het
Dhx30 T C 9: 109,915,750 (GRCm39) D741G probably damaging Het
Dhx37 A G 5: 125,507,958 (GRCm39) V104A probably benign Het
Dnah12 A G 14: 26,571,255 (GRCm39) K2788R possibly damaging Het
Egfr T A 11: 16,855,410 (GRCm39) D898E probably damaging Het
Eif2ak4 G C 2: 118,271,701 (GRCm39) probably null Het
Eif6 A G 2: 155,665,852 (GRCm39) L101P probably damaging Het
Etaa1 A T 11: 17,896,419 (GRCm39) V566E probably damaging Het
Far2 C T 6: 148,060,418 (GRCm39) T257I probably benign Het
Fuca2 G A 10: 13,390,563 (GRCm39) W453* probably null Het
Galntl6 A T 8: 58,310,590 (GRCm39) Y370* probably null Het
Gcn1 T C 5: 115,719,867 (GRCm39) V374A probably benign Het
Hycc2 T C 1: 58,591,361 (GRCm39) D94G probably damaging Het
Ifi202b A T 1: 173,804,949 (GRCm39) M1K probably null Het
Lama4 A G 10: 38,950,688 (GRCm39) Y997C probably damaging Het
Lepr T A 4: 101,602,798 (GRCm39) C195* probably null Het
Lrrc37 T A 11: 103,508,263 (GRCm39) H1235L unknown Het
Lrrc73 T C 17: 46,565,535 (GRCm39) S89P probably benign Het
Macf1 T C 4: 123,367,582 (GRCm39) E2393G probably damaging Het
Mdga2 T A 12: 66,517,481 (GRCm39) T118S possibly damaging Het
Msantd5f3 T C 4: 73,575,373 (GRCm39) S351P probably damaging Het
Mtf2 A G 5: 108,234,949 (GRCm39) K124R probably benign Het
Muc5b T C 7: 141,399,075 (GRCm39) Y339H unknown Het
Nes G A 3: 87,887,012 (GRCm39) G1757E probably damaging Het
Nfatc4 A T 14: 56,064,685 (GRCm39) I391F probably damaging Het
Nup93 A T 8: 94,954,371 (GRCm39) I23F probably benign Het
Or4a27 A C 2: 88,559,174 (GRCm39) Y256* probably null Het
Or5h17 T G 16: 58,820,083 (GRCm39) F12V probably damaging Het
Or6y1 A C 1: 174,276,923 (GRCm39) T245P probably damaging Het
Or7g16 G T 9: 18,726,742 (GRCm39) Q283K probably damaging Het
Or9i14 A T 19: 13,792,388 (GRCm39) C189S probably damaging Het
Pak5 A C 2: 135,943,126 (GRCm39) M338R probably benign Het
Papola A G 12: 105,766,032 (GRCm39) E44G probably benign Het
Pcdh15 A T 10: 74,479,455 (GRCm39) E522V probably benign Het
Peli2 A G 14: 48,518,927 (GRCm39) E225G probably benign Het
Pla2g1b T G 5: 115,612,595 (GRCm39) I117S probably damaging Het
Plxnd1 G T 6: 115,943,469 (GRCm39) Q1246K probably benign Het
Pole A G 5: 110,480,288 (GRCm39) E1953G probably benign Het
Pus7l T C 15: 94,431,445 (GRCm39) I395V probably benign Het
Shisa7 T G 7: 4,837,333 (GRCm39) D244A probably damaging Het
Slco3a1 T C 7: 73,952,946 (GRCm39) T538A probably benign Het
Syk T A 13: 52,766,480 (GRCm39) N188K probably benign Het
Tcf20 A G 15: 82,740,705 (GRCm39) S249P probably benign Het
Tmem25 T C 9: 44,709,529 (GRCm39) T91A possibly damaging Het
Trank1 T C 9: 111,221,579 (GRCm39) V2772A probably benign Het
Ttn A T 2: 76,596,447 (GRCm39) Y20155* probably null Het
Uchl4 C T 9: 64,142,986 (GRCm39) H156Y probably benign Het
Ulbp1 A T 10: 7,396,392 (GRCm39) L295Q unknown Het
Vwf G A 6: 125,581,254 (GRCm39) A631T Het
Zfp810 C T 9: 22,189,936 (GRCm39) C324Y probably damaging Het
Zswim8 T C 14: 20,761,908 (GRCm39) L227P probably damaging Het
Other mutations in Hjv
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01671:Hjv APN 3 96,435,807 (GRCm39) missense probably damaging 1.00
IGL02342:Hjv APN 3 96,435,488 (GRCm39) missense possibly damaging 0.78
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
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
Predicted Primers PCR Primer
(F):5'- GGACCTACAGCTGTGTGTTG -3'
(R):5'- TGTGGTTTCTCACACCAACC -3'

Sequencing Primer
(F):5'- AGCCAGCGACTCTCTCG -3'
(R):5'- GTGGTTTCTCACACCAACCTCTATC -3'
Posted On 2022-02-07