Incidental Mutation 'R9268:Hjv'
ID 702667
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9268 (G1)
Quality Score 225.009
Status 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: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,969,030 (GRCm39) T218A possibly 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
Adnp A G 2: 168,031,233 (GRCm39) I26T possibly damaging Het
Alk T C 17: 72,181,190 (GRCm39) T1367A probably damaging Het
Apoa5 A T 9: 46,181,719 (GRCm39) D265V probably benign Het
Asb15 G A 6: 24,566,298 (GRCm39) R417H probably benign Het
Atg2a A C 19: 6,291,905 (GRCm39) H27P probably damaging Het
Bace1 G T 9: 45,767,282 (GRCm39) probably benign 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
Cdh19 A G 1: 110,877,111 (GRCm39) F76S probably damaging Het
Ces1b A C 8: 93,798,583 (GRCm39) V201G probably damaging Het
Clk1 A G 1: 58,458,882 (GRCm39) L133S unknown Het
Clstn3 G A 6: 124,433,880 (GRCm39) L427F probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cyp2j11 A T 4: 96,207,781 (GRCm39) probably benign Het
Dctn4 T A 18: 60,659,304 (GRCm39) M1K probably null Het
Dnah12 A G 14: 26,571,255 (GRCm39) K2788R possibly damaging Het
Dtna T A 18: 23,702,643 (GRCm39) V58D 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
Enam A G 5: 88,640,778 (GRCm39) M147V probably benign Het
Etaa1 A T 11: 17,896,419 (GRCm39) V566E probably damaging Het
F13a1 C T 13: 37,076,910 (GRCm39) G593D probably benign Het
Far2 C T 6: 148,060,418 (GRCm39) T257I probably benign Het
Fat4 C T 3: 38,942,396 (GRCm39) R430C probably damaging Het
Fhod3 T C 18: 24,842,832 (GRCm39) probably null Het
Fuca2 G A 10: 13,390,563 (GRCm39) W453* probably null Het
Hycc2 T C 1: 58,591,361 (GRCm39) D94G probably damaging Het
Ift70a1 A T 2: 75,811,279 (GRCm39) V268E probably benign Het
Igkv4-72 A T 6: 69,203,980 (GRCm39) Y70* probably null Het
Kdm1b A C 13: 47,217,705 (GRCm39) N388T probably benign Het
Klri2 A T 6: 129,710,037 (GRCm39) W188R probably damaging Het
Lama4 A G 10: 38,950,688 (GRCm39) Y997C probably damaging 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
Mfsd14b A G 13: 65,222,855 (GRCm39) L265P probably damaging Het
Msantd5f3 T C 4: 73,575,373 (GRCm39) S351P probably damaging Het
Myo3b A C 2: 70,257,305 (GRCm39) *1334C probably null Het
Nfatc4 A T 14: 56,064,685 (GRCm39) I391F probably damaging Het
Nlgn1 A T 3: 25,490,548 (GRCm39) M393K probably damaging Het
Or5h17 T G 16: 58,820,083 (GRCm39) F12V probably damaging Het
Or9i14 A T 19: 13,792,388 (GRCm39) C189S probably damaging Het
Otogl A T 10: 107,616,917 (GRCm39) C1787S probably damaging Het
Papola A G 12: 105,766,032 (GRCm39) E44G probably benign Het
Parp1 A G 1: 180,415,509 (GRCm39) K443E possibly damaging 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
Pus7l T C 15: 94,431,445 (GRCm39) I395V probably benign Het
Rmi1 T C 13: 58,555,853 (GRCm39) I34T probably damaging Het
Rnf220 A G 4: 117,346,833 (GRCm39) I193T probably benign Het
Rpgrip1l T C 8: 92,007,355 (GRCm39) T412A 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
Sptlc1 A T 13: 53,512,872 (GRCm39) I162N probably damaging Het
Ssrp1 C A 2: 84,870,606 (GRCm39) probably benign Het
Sytl2 A G 7: 90,034,359 (GRCm39) N523S probably benign Het
Tcf20 A G 15: 82,740,705 (GRCm39) S249P probably benign Het
Thumpd3 T A 6: 113,043,819 (GRCm39) F411L probably damaging Het
Ttn A G 2: 76,768,079 (GRCm39) W3007R unknown Het
Ulbp1 A T 10: 7,396,392 (GRCm39) L295Q unknown Het
Vmn1r29 T A 6: 58,284,577 (GRCm39) V99E probably damaging Het
Wdr47 T C 3: 108,525,812 (GRCm39) F112L probably benign Het
Wnk2 A G 13: 49,235,507 (GRCm39) V636A possibly 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
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
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'- ACCTACAGCTGTGTGTTGGG -3'
(R):5'- GAGTAAGTGTTGTCTCCTGTCCC -3'

Sequencing Primer
(F):5'- AGCCAGCGACTCTCTCG -3'
(R):5'- TGTGGTTTCTCACACCAACC -3'
Posted On 2022-03-25