Incidental Mutation 'R6636:Hfe'
| ID |
525481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hfe
|
| Ensembl Gene |
ENSMUSG00000006611 |
| Gene Name |
homeostatic iron regulator |
| Synonyms |
MR2 |
| MMRRC Submission |
044757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6636 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23886017-23894837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23890779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 120
(E120G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006787]
[ENSMUST00000091706]
[ENSMUST00000091707]
|
| AlphaFold |
P70387 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006787
|
| SMART Domains |
Protein: ENSMUSP00000006787
Gene: ENSMUSG00000006611
| Domain | Start | End | E-Value | Type |
|---|
|
IGc1
|
44 |
116 |
1.03e-14 |
SMART |
|
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091706
AA Change: E208G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000089298
Gene: ENSMUSG00000006611
AA Change: E208G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
30 |
214 |
4e-46 |
PFAM |
|
Pfam:MHC_I_3
|
53 |
212 |
7.4e-12 |
PFAM |
|
IGc1
|
232 |
304 |
1.03e-14 |
SMART |
|
transmembrane domain
|
318 |
340 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091707
AA Change: E120G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000089299
Gene: ENSMUSG00000006611
AA Change: E120G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
34 |
126 |
7.3e-24 |
PFAM |
|
IGc1
|
144 |
216 |
1.03e-14 |
SMART |
|
transmembrane domain
|
230 |
252 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151243
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this gene affects iron metabolism. Homozygotes for targeted null mutations exhibit increased intestinal iron absorption and an elevated hepatic iron load but reduced duodenal iron stores. Heterozygotes also accumulate more iron than normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,659,251 (GRCm39) |
V513A |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
| AY761185 |
T |
A |
8: 21,434,556 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,828,013 (GRCm39) |
D68G |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,985,259 (GRCm39) |
I308F |
probably damaging |
Het |
| Coq8a |
A |
T |
1: 180,006,552 (GRCm39) |
S112T |
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fryl |
C |
A |
5: 73,290,655 (GRCm39) |
R83L |
probably benign |
Het |
| Gm4861 |
C |
T |
3: 137,256,760 (GRCm39) |
|
probably null |
Het |
| Gnai1 |
T |
C |
5: 18,478,472 (GRCm39) |
D231G |
probably damaging |
Het |
| Hgd |
A |
G |
16: 37,435,736 (GRCm39) |
N149S |
possibly damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 27,000,564 (GRCm39) |
V1653L |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,117,721 (GRCm39) |
I947N |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Nmbr |
T |
C |
10: 14,645,978 (GRCm39) |
S168P |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,807,324 (GRCm39) |
T168A |
probably benign |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,238,831 (GRCm39) |
F13S |
probably benign |
Het |
| Pde1c |
A |
C |
6: 56,157,087 (GRCm39) |
V191G |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,813 (GRCm39) |
I285F |
probably benign |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Spp1 |
T |
C |
5: 104,588,396 (GRCm39) |
V267A |
possibly damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,247 (GRCm39) |
Y244N |
probably damaging |
Het |
| Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Tmcc3 |
T |
A |
10: 94,414,286 (GRCm39) |
V27E |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,261,035 (GRCm39) |
A1061V |
probably damaging |
Het |
| Ttll1 |
C |
G |
15: 83,384,147 (GRCm39) |
W160S |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,796,075 (GRCm39) |
F197I |
probably damaging |
Het |
| Wnt7a |
A |
G |
6: 91,371,540 (GRCm39) |
Y141H |
probably benign |
Het |
|
| Other mutations in Hfe |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Hfe
|
APN |
13 |
23,889,835 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01733:Hfe
|
APN |
13 |
23,890,848 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02227:Hfe
|
APN |
13 |
23,890,926 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02339:Hfe
|
APN |
13 |
23,888,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1669:Hfe
|
UTSW |
13 |
23,890,110 (GRCm39) |
nonsense |
probably null |
|
|
R1704:Hfe
|
UTSW |
13 |
23,888,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Hfe
|
UTSW |
13 |
23,890,866 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4624:Hfe
|
UTSW |
13 |
23,890,061 (GRCm39) |
nonsense |
probably null |
|
|
R4904:Hfe
|
UTSW |
13 |
23,892,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5926:Hfe
|
UTSW |
13 |
23,892,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6246:Hfe
|
UTSW |
13 |
23,892,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Hfe
|
UTSW |
13 |
23,889,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6636:Hfe
|
UTSW |
13 |
23,890,778 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6637:Hfe
|
UTSW |
13 |
23,890,779 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6637:Hfe
|
UTSW |
13 |
23,890,778 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7167:Hfe
|
UTSW |
13 |
23,892,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Hfe
|
UTSW |
13 |
23,890,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7816:Hfe
|
UTSW |
13 |
23,888,382 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8188:Hfe
|
UTSW |
13 |
23,892,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8807:Hfe
|
UTSW |
13 |
23,889,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9057:Hfe
|
UTSW |
13 |
23,889,658 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9293:Hfe
|
UTSW |
13 |
23,890,792 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9302:Hfe
|
UTSW |
13 |
23,890,025 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9352:Hfe
|
UTSW |
13 |
23,890,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Hfe
|
UTSW |
13 |
23,890,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAGGCCACTAACATTTCCC -3'
(R):5'- ATGACGGGCAAGATCACCTG -3'
Sequencing Primer
(F):5'- CATAGTGAGATCTAGACCAGCCTTG -3'
(R):5'- GGCAAGATCACCTGGAATTCTGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation