Incidental Mutation 'R6455:Slc40a1'
ID |
519514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc40a1
|
Ensembl Gene |
ENSMUSG00000025993 |
Gene Name |
solute carrier family 40 (iron-regulated transporter), member 1 |
Synonyms |
ferroportin1, IREG1, MTP1, metal transporting protein 1, Pcm, Ol5, Slc11a3, Dusg, FPN1 |
MMRRC Submission |
044591-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6455 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 45958107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 109
(I109F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
[ENSMUST00000186804]
[ENSMUST00000187406]
[ENSMUST00000187420]
|
AlphaFold |
Q9JHI9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027137
AA Change: I109F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027137 Gene: ENSMUSG00000025993 AA Change: I109F
Domain | Start | End | E-Value | Type |
Pfam:FPN1
|
22 |
530 |
5e-194 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186755
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186804
|
SMART Domains |
Protein: ENSMUSP00000140969 Gene: ENSMUSG00000025993
Domain | Start | End | E-Value | Type |
Pfam:FPN1
|
22 |
70 |
4.9e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186822
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187406
|
SMART Domains |
Protein: ENSMUSP00000140734 Gene: ENSMUSG00000025993
Domain | Start | End | E-Value | Type |
Pfam:FPN1
|
22 |
70 |
4.9e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187420
|
SMART Domains |
Protein: ENSMUSP00000140549 Gene: ENSMUSG00000025993
Domain | Start | End | E-Value | Type |
Pfam:FPN1
|
22 |
70 |
4.9e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188252
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191247
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
Validation Efficiency |
96% (70/73) |
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 cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted mutation exhibit embryonic lethality before embryo turning. Mice heterozygous for a targeted mutation display decreased thermal response latency. Mice heterozygous for an ENU induced mutation display abnormal iron homeostasis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,042,376 (GRCm39) |
R1899G |
probably damaging |
Het |
Abca6 |
C |
T |
11: 110,132,407 (GRCm39) |
G296D |
probably damaging |
Het |
Abcb5 |
A |
T |
12: 118,854,284 (GRCm39) |
|
probably null |
Het |
Adam28 |
T |
G |
14: 68,870,657 (GRCm39) |
T339P |
probably damaging |
Het |
Adam34l |
T |
A |
8: 44,079,189 (GRCm39) |
H345L |
probably damaging |
Het |
Adcy10 |
C |
G |
1: 165,345,943 (GRCm39) |
Q331E |
probably damaging |
Het |
Aldh1a2 |
A |
T |
9: 71,160,196 (GRCm39) |
|
probably null |
Het |
Alms1 |
T |
A |
6: 85,673,639 (GRCm39) |
I3078N |
probably damaging |
Het |
Amtn |
A |
T |
5: 88,528,139 (GRCm39) |
N71Y |
probably damaging |
Het |
Arhgef18 |
A |
T |
8: 3,438,753 (GRCm39) |
Y370F |
probably benign |
Het |
Arid4a |
T |
C |
12: 71,121,862 (GRCm39) |
S748P |
probably benign |
Het |
Atp2b1 |
C |
A |
10: 98,852,842 (GRCm39) |
Q108K |
possibly damaging |
Het |
Bcdin3d |
T |
C |
15: 99,368,830 (GRCm39) |
D123G |
probably benign |
Het |
Capn15 |
A |
G |
17: 26,184,410 (GRCm39) |
S24P |
probably damaging |
Het |
Cc2d2a |
T |
A |
5: 43,896,754 (GRCm39) |
S1550R |
possibly damaging |
Het |
Ccdc7a |
C |
T |
8: 129,559,091 (GRCm39) |
V1174M |
probably damaging |
Het |
Cd22 |
T |
A |
7: 30,575,578 (GRCm39) |
I155F |
probably damaging |
Het |
Ceacam3 |
T |
C |
7: 16,895,863 (GRCm39) |
I611T |
possibly damaging |
Het |
Chrna1 |
C |
T |
2: 73,397,180 (GRCm39) |
D370N |
possibly damaging |
Het |
Dlg2 |
C |
A |
7: 92,093,716 (GRCm39) |
|
probably null |
Het |
Dll4 |
A |
T |
2: 119,164,276 (GRCm39) |
|
probably null |
Het |
Eif5b |
T |
C |
1: 38,058,108 (GRCm39) |
S137P |
probably benign |
Het |
Epn2 |
A |
T |
11: 61,424,467 (GRCm39) |
M250K |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,161,283 (GRCm39) |
Q3149L |
probably damaging |
Het |
Fbxl13 |
G |
A |
5: 21,761,812 (GRCm39) |
S341F |
probably benign |
Het |
Gm5141 |
A |
T |
13: 62,922,597 (GRCm39) |
C191S |
probably damaging |
Het |
Gm5150 |
C |
T |
3: 16,044,815 (GRCm39) |
G137S |
probably damaging |
Het |
Gpr75 |
C |
T |
11: 30,841,529 (GRCm39) |
R145W |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,060,502 (GRCm39) |
H2058Y |
probably benign |
Het |
Ina |
G |
A |
19: 47,012,000 (GRCm39) |
E473K |
probably benign |
Het |
Irx6 |
T |
C |
8: 93,402,700 (GRCm39) |
S22P |
probably benign |
Het |
Itpr1 |
T |
A |
6: 108,394,933 (GRCm39) |
M32K |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,061,795 (GRCm39) |
S1383T |
probably benign |
Het |
Lclat1 |
T |
A |
17: 73,468,828 (GRCm39) |
S3T |
probably damaging |
Het |
Llgl1 |
G |
A |
11: 60,600,486 (GRCm39) |
V612M |
probably damaging |
Het |
Mios |
A |
G |
6: 8,231,239 (GRCm39) |
R708G |
probably benign |
Het |
Mphosph8 |
T |
C |
14: 56,925,943 (GRCm39) |
L636P |
probably damaging |
Het |
Mrgpra2b |
T |
A |
7: 47,113,893 (GRCm39) |
N254Y |
probably damaging |
Het |
Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
Myog |
G |
A |
1: 134,218,226 (GRCm39) |
D145N |
probably benign |
Het |
Nat10 |
T |
A |
2: 103,570,231 (GRCm39) |
I371F |
possibly damaging |
Het |
Neb |
A |
T |
2: 52,057,656 (GRCm39) |
Y229* |
probably null |
Het |
Nlrp6 |
T |
A |
7: 140,507,422 (GRCm39) |
I896K |
possibly damaging |
Het |
Or11g7 |
A |
T |
14: 50,691,042 (GRCm39) |
I178L |
possibly damaging |
Het |
Or52p2 |
G |
A |
7: 102,237,878 (GRCm39) |
A24V |
probably benign |
Het |
Or5an11 |
T |
C |
19: 12,246,070 (GRCm39) |
S159P |
probably damaging |
Het |
Pate5 |
T |
A |
9: 35,755,351 (GRCm39) |
K3* |
probably null |
Het |
Pcdhgc5 |
A |
C |
18: 37,954,301 (GRCm39) |
E525A |
probably damaging |
Het |
Pira1 |
T |
A |
7: 3,741,930 (GRCm39) |
Y150F |
probably benign |
Het |
Pkd2 |
C |
A |
5: 104,607,790 (GRCm39) |
D96E |
probably benign |
Het |
Prtg |
A |
G |
9: 72,815,138 (GRCm39) |
D1022G |
probably damaging |
Het |
Ptpn13 |
T |
C |
5: 103,689,150 (GRCm39) |
M981T |
probably benign |
Het |
Rc3h2 |
C |
A |
2: 37,299,482 (GRCm39) |
A183S |
probably damaging |
Het |
Rorb |
A |
T |
19: 18,937,856 (GRCm39) |
I270N |
probably damaging |
Het |
Rpgrip1 |
C |
T |
14: 52,378,646 (GRCm39) |
R524W |
probably damaging |
Het |
Slc25a10 |
T |
C |
11: 120,386,031 (GRCm39) |
V124A |
probably damaging |
Het |
Spen |
G |
A |
4: 141,202,820 (GRCm39) |
R1936W |
probably damaging |
Het |
St6gal2 |
T |
A |
17: 55,789,514 (GRCm39) |
Y183N |
probably benign |
Het |
Svil |
A |
G |
18: 5,056,629 (GRCm39) |
K588E |
possibly damaging |
Het |
Tas2r122 |
C |
T |
6: 132,688,626 (GRCm39) |
W89* |
probably null |
Het |
Tbxas1 |
T |
A |
6: 38,929,079 (GRCm39) |
|
probably benign |
Het |
Tia1 |
T |
A |
6: 86,397,360 (GRCm39) |
I111N |
probably damaging |
Het |
Tlr9 |
T |
A |
9: 106,101,198 (GRCm39) |
L163H |
probably damaging |
Het |
Tnn |
C |
T |
1: 159,942,289 (GRCm39) |
V806M |
probably damaging |
Het |
Traf5 |
G |
A |
1: 191,731,887 (GRCm39) |
A318V |
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,219,482 (GRCm39) |
M1K |
probably null |
Het |
Utp25 |
G |
T |
1: 192,810,684 (GRCm39) |
D106E |
probably benign |
Het |
Vmn1r192 |
T |
A |
13: 22,372,000 (GRCm39) |
R73S |
probably benign |
Het |
Vmn1r71 |
T |
C |
7: 10,482,331 (GRCm39) |
Y53C |
probably benign |
Het |
Vmn2r34 |
T |
A |
7: 7,686,582 (GRCm39) |
N372Y |
probably damaging |
Het |
Wbp2 |
A |
T |
11: 115,970,579 (GRCm39) |
S229R |
probably damaging |
Het |
Wdr18 |
C |
T |
10: 79,801,115 (GRCm39) |
T176I |
probably damaging |
Het |
|
Other mutations in Slc40a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01548:Slc40a1
|
APN |
1 |
45,948,652 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01576:Slc40a1
|
APN |
1 |
45,948,757 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02113:Slc40a1
|
APN |
1 |
45,950,054 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02116:Slc40a1
|
APN |
1 |
45,950,688 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02220:Slc40a1
|
APN |
1 |
45,950,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02537:Slc40a1
|
APN |
1 |
45,950,553 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02574:Slc40a1
|
APN |
1 |
45,951,534 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02673:Slc40a1
|
APN |
1 |
45,957,576 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02794:Slc40a1
|
APN |
1 |
45,948,668 (GRCm39) |
nonsense |
probably null |
|
R0376:Slc40a1
|
UTSW |
1 |
45,951,651 (GRCm39) |
splice site |
probably benign |
|
R0417:Slc40a1
|
UTSW |
1 |
45,950,534 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1608:Slc40a1
|
UTSW |
1 |
45,950,457 (GRCm39) |
missense |
probably damaging |
0.96 |
R1723:Slc40a1
|
UTSW |
1 |
45,963,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R1892:Slc40a1
|
UTSW |
1 |
45,950,302 (GRCm39) |
nonsense |
probably null |
|
R2092:Slc40a1
|
UTSW |
1 |
45,948,614 (GRCm39) |
missense |
probably benign |
|
R2303:Slc40a1
|
UTSW |
1 |
45,950,044 (GRCm39) |
splice site |
probably benign |
|
R2365:Slc40a1
|
UTSW |
1 |
45,963,873 (GRCm39) |
splice site |
probably null |
|
R3718:Slc40a1
|
UTSW |
1 |
45,950,151 (GRCm39) |
missense |
probably benign |
|
R4689:Slc40a1
|
UTSW |
1 |
45,951,473 (GRCm39) |
missense |
probably benign |
0.00 |
R4994:Slc40a1
|
UTSW |
1 |
45,948,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R5103:Slc40a1
|
UTSW |
1 |
45,958,155 (GRCm39) |
nonsense |
probably null |
|
R5151:Slc40a1
|
UTSW |
1 |
45,950,516 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5364:Slc40a1
|
UTSW |
1 |
45,964,383 (GRCm39) |
missense |
probably damaging |
0.96 |
R5404:Slc40a1
|
UTSW |
1 |
45,951,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5531:Slc40a1
|
UTSW |
1 |
45,951,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R5841:Slc40a1
|
UTSW |
1 |
45,951,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R6440:Slc40a1
|
UTSW |
1 |
45,964,422 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
R6975:Slc40a1
|
UTSW |
1 |
45,948,652 (GRCm39) |
missense |
probably benign |
0.19 |
R7085:Slc40a1
|
UTSW |
1 |
45,950,688 (GRCm39) |
missense |
probably benign |
|
R7130:Slc40a1
|
UTSW |
1 |
45,960,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R7502:Slc40a1
|
UTSW |
1 |
45,958,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R7755:Slc40a1
|
UTSW |
1 |
45,950,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R8085:Slc40a1
|
UTSW |
1 |
45,957,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R8218:Slc40a1
|
UTSW |
1 |
45,950,129 (GRCm39) |
missense |
probably benign |
0.03 |
R8308:Slc40a1
|
UTSW |
1 |
45,950,180 (GRCm39) |
missense |
probably benign |
0.02 |
R8333:Slc40a1
|
UTSW |
1 |
45,950,439 (GRCm39) |
missense |
probably damaging |
0.97 |
R8427:Slc40a1
|
UTSW |
1 |
45,951,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R8493:Slc40a1
|
UTSW |
1 |
45,950,576 (GRCm39) |
missense |
probably damaging |
0.98 |
R8515:Slc40a1
|
UTSW |
1 |
45,951,467 (GRCm39) |
missense |
probably damaging |
0.99 |
R8817:Slc40a1
|
UTSW |
1 |
45,948,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R8981:Slc40a1
|
UTSW |
1 |
45,948,580 (GRCm39) |
missense |
probably benign |
|
R8987:Slc40a1
|
UTSW |
1 |
45,950,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R9042:Slc40a1
|
UTSW |
1 |
45,948,621 (GRCm39) |
missense |
probably benign |
0.31 |
R9183:Slc40a1
|
UTSW |
1 |
45,948,671 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9242:Slc40a1
|
UTSW |
1 |
45,950,129 (GRCm39) |
missense |
probably benign |
|
R9522:Slc40a1
|
UTSW |
1 |
45,948,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R9582:Slc40a1
|
UTSW |
1 |
45,950,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R9783:Slc40a1
|
UTSW |
1 |
45,951,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGTCTACATTTTCACTGCTGTTAC -3'
(R):5'- AACTGCGGCAGGATTTACTG -3'
Sequencing Primer
(F):5'- TCCTGGAGGAGCTGAGGC -3'
(R):5'- CAGGATTTACTGCTGGAAGGTTATC -3'
|
Posted On |
2018-05-24 |