Mutagenetix > Incidental Mutation

Incidental Mutation 'R5475:Hjv'

434004

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

043036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5475 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

96432488-96436526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96434599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 113 (S113P)

Ref Sequence

ENSEMBL: ENSMUSP00000046659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049208]

AlphaFold

Q7TQ32

Predicted Effect

probably benign
Transcript: ENSMUST00000049208
AA Change: S113P

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046659
Gene: ENSMUSG00000038403
AA Change: S113P

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0781

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.5%
20x: 91.8%

Validation Efficiency

96% (72/75)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
AA467197	A	G	2: 122,482,646 (GRCm39)	K70R	probably damaging	Het
Agr3	A	G	12: 35,997,539 (GRCm39)	N83S	probably benign	Het
Alpk2	T	C	18: 65,440,083 (GRCm39)	T904A	probably benign	Het
Ank	A	T	15: 27,557,285 (GRCm39)	K156N	probably damaging	Het
Arsb	T	G	13: 93,998,773 (GRCm39)	D360E	probably benign	Het
Atg14	C	T	14: 47,805,793 (GRCm39)	R24Q	possibly damaging	Het
Cacna1e	A	T	1: 154,601,455 (GRCm39)	F71I	possibly damaging	Het
Cdc42bpg	T	C	19: 6,361,101 (GRCm39)	I242T	probably damaging	Het
Cngb1	A	T	8: 95,978,597 (GRCm39)	I588N	probably damaging	Het
Col6a6	T	C	9: 105,651,537 (GRCm39)	H1158R	probably null	Het
Cse1l	T	C	2: 166,783,174 (GRCm39)	S684P	probably damaging	Het
Cyp2c29	A	T	19: 39,318,731 (GRCm39)	M404L	possibly damaging	Het
D5Ertd579e	G	T	5: 36,772,601 (GRCm39)	S598Y	probably damaging	Het
Dph7	A	T	2: 24,858,969 (GRCm39)		probably null	Het
Dsg1c	A	T	18: 20,415,088 (GRCm39)	N662Y	probably damaging	Het
Efcab9	T	G	11: 32,472,862 (GRCm39)	D195A	probably damaging	Het
Ephb4	A	G	5: 137,352,701 (GRCm39)	M95V	probably benign	Het
Fam171a1	A	T	2: 3,226,334 (GRCm39)	Y489F	possibly damaging	Het
Fars2	T	C	13: 36,388,553 (GRCm39)	I14T	probably benign	Het
Fbxo34	T	C	14: 47,766,802 (GRCm39)	V54A	probably benign	Het
Fbxw17	T	C	13: 50,579,684 (GRCm39)	I167T	probably benign	Het
Fzd9	A	T	5: 135,279,123 (GRCm39)		probably null	Het
Gm26996	T	A	6: 130,556,918 (GRCm39)		noncoding transcript	Het
Gm4744	A	G	6: 40,927,388 (GRCm39)		probably benign	Het
Gm4744	T	A	6: 40,927,403 (GRCm39)		probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Has1	C	A	17: 18,068,583 (GRCm39)	R257L	possibly damaging	Het
Hsd17b8	C	T	17: 34,246,287 (GRCm39)		probably benign	Het
Kat2b	T	G	17: 53,970,609 (GRCm39)	V665G	probably damaging	Het
Klhdc4	T	A	8: 122,526,311 (GRCm39)	H276L	possibly damaging	Het
Klhl6	A	T	16: 19,766,877 (GRCm39)	C506S	probably damaging	Het
Ldb2	T	C	5: 44,699,174 (GRCm39)	Y88C	probably damaging	Het
Lrit1	A	G	14: 36,776,958 (GRCm39)	E26G	probably benign	Het
Mcoln2	A	G	3: 145,889,541 (GRCm39)	Y414C	probably damaging	Het
Mfsd5	A	G	15: 102,188,928 (GRCm39)	D100G	probably damaging	Het
Micall2	T	A	5: 139,702,224 (GRCm39)	S340C	probably damaging	Het
Npsr1	T	C	9: 24,211,715 (GRCm39)	I81T	probably damaging	Het
Or2bd2	G	T	7: 6,443,169 (GRCm39)	R90L	probably benign	Het
Or2t49	A	G	11: 58,392,431 (GRCm39)	V317A	probably benign	Het
Or6x1	T	A	9: 40,099,005 (GRCm39)	L198H	possibly damaging	Het
Or8b56	T	A	9: 38,739,762 (GRCm39)	F258L	possibly damaging	Het
Pax3	T	C	1: 78,080,055 (GRCm39)	T444A	probably benign	Het
Pea15a	A	G	1: 172,026,809 (GRCm39)		probably null	Het
Phc1	T	A	6: 122,311,051 (GRCm39)	Q95L	possibly damaging	Het
Plch2	T	C	4: 155,084,594 (GRCm39)	Y361C	probably damaging	Het
Pphln1-ps1	A	T	16: 13,494,977 (GRCm39)	R25S	possibly damaging	Het
Rad54l2	C	T	9: 106,583,057 (GRCm39)	G787D	probably damaging	Het
Rbm20	G	T	19: 53,823,136 (GRCm39)	E578*	probably null	Het
Sipa1l2	A	T	8: 126,218,334 (GRCm39)	D334E	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Thumpd1	A	G	7: 119,319,943 (GRCm39)	S8P	probably benign	Het
Tnxb	T	C	17: 34,908,567 (GRCm39)	Y1407H	probably damaging	Het
Trav2	T	A	14: 52,805,290 (GRCm39)	V37E	probably damaging	Het
Trav3-1	G	T	14: 52,818,494 (GRCm39)	W56L	probably damaging	Het
Usp31	A	T	7: 121,250,749 (GRCm39)	L808Q	probably damaging	Het
Vmn1r52	C	T	6: 90,155,894 (GRCm39)	A66V	probably benign	Het
Vmn2r105	T	A	17: 20,455,044 (GRCm39)	I31L	probably benign	Het
Wdr1	C	T	5: 38,686,931 (GRCm39)	G278S	probably damaging	Het
Zbtb2	G	T	10: 4,319,275 (GRCm39)	F250L	probably benign	Het

Other mutations in Hjv

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GCTGCAATGCCGAGTATGTCTC -3'
(R):5'- AAACTGCGCACATGGGGATC -3'

Sequencing Primer
(F):5'- GAGTATGTCTCGTCCACTCTGAG -3'
(R):5'- TCTCCAAAGGATGCGCAATG -3'

Posted On

2016-10-06