Incidental Mutation 'PIT4354001:Hjv'
| ID |
554809 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4354001 (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 96435761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 340
(C340R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049208]
|
| AlphaFold |
Q7TQ32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049208
AA Change: C340R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046659
Gene: ENSMUSG00000038403
AA Change: C340R
| 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 |
|
| Coding Region Coverage |
- 1x: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,182 (GRCm39) |
M391K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
| Ctu2 |
A |
T |
8: 123,205,714 (GRCm39) |
D179V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
| Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
| Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
| Gigyf1 |
A |
G |
5: 137,522,366 (GRCm39) |
K728R |
unknown |
Het |
| Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
| Isy1 |
A |
G |
6: 87,810,653 (GRCm39) |
I53T |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
| Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
| Or2v1 |
G |
A |
11: 49,025,132 (GRCm39) |
V38M |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
| Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
| Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
| Prss51 |
T |
A |
14: 64,334,546 (GRCm39) |
V91D |
probably damaging |
Het |
| Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
| Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,914 (GRCm39) |
M441K |
possibly damaging |
Het |
| Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
| Slc38a3 |
T |
G |
9: 107,534,848 (GRCm39) |
N176H |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,200,447 (GRCm39) |
Q451L |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
| Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
| Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
| Usp14 |
G |
A |
18: 9,996,189 (GRCm39) |
R464W |
probably damaging |
Het |
| Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
| Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATTCGACAGACAGCTGGG -3'
(R):5'- GCTGGCCTACTTACTGAAGC -3'
Sequencing Primer
(F):5'- GCAGCTCTCCTTCTCCATCAGG -3'
(R):5'- TGGCCTACTTACTGAAGCAAAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation