Incidental Mutation 'R1608:Slc40a1'
| ID |
176596 |
| 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 |
039645-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1608 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45950457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 332
(A332T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
|
| AlphaFold |
Q9JHI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027137
AA Change: A332T
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: A332T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPN1
|
22 |
530 |
5e-194 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191247
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
A |
G |
9: 30,813,775 (GRCm39) |
S797P |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,011,783 (GRCm39) |
Y829H |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,279,375 (GRCm39) |
D74G |
probably damaging |
Het |
| B3gat1 |
T |
C |
9: 26,663,112 (GRCm39) |
I13T |
probably damaging |
Het |
| Cbfa2t3 |
A |
T |
8: 123,374,448 (GRCm39) |
V99D |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,309,799 (GRCm39) |
C1600Y |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,078 (GRCm39) |
N291K |
probably damaging |
Het |
| Dennd1a |
T |
G |
2: 37,742,446 (GRCm39) |
M3L |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,488,147 (GRCm39) |
P1017L |
probably damaging |
Het |
| Dnajc6 |
A |
T |
4: 101,456,364 (GRCm39) |
D86V |
probably damaging |
Het |
| Evx2 |
T |
G |
2: 74,488,195 (GRCm39) |
K208N |
probably damaging |
Het |
| F13a1 |
A |
G |
13: 37,052,785 (GRCm39) |
V718A |
probably damaging |
Het |
| Fcho2 |
T |
C |
13: 98,862,706 (GRCm39) |
D757G |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,232,094 (GRCm39) |
W424* |
probably null |
Het |
| Gata3 |
G |
T |
2: 9,879,579 (GRCm39) |
Y97* |
probably null |
Het |
| Gm15446 |
T |
A |
5: 110,090,323 (GRCm39) |
C192S |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,009,521 (GRCm39) |
D470E |
probably benign |
Het |
| Ier2 |
A |
G |
8: 85,389,055 (GRCm39) |
L109P |
probably benign |
Het |
| Iftap |
T |
C |
2: 101,440,916 (GRCm39) |
E29G |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,217 (GRCm39) |
T559A |
probably benign |
Het |
| Khk |
C |
T |
5: 31,087,938 (GRCm39) |
A204V |
probably damaging |
Het |
| Kndc1 |
T |
A |
7: 139,507,321 (GRCm39) |
M1169K |
possibly damaging |
Het |
| Krtap31-1 |
A |
G |
11: 99,798,919 (GRCm39) |
S41G |
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,512,162 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,913,039 (GRCm39) |
D939G |
probably benign |
Het |
| Or5e1 |
A |
T |
7: 108,354,309 (GRCm39) |
N82I |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,340,974 (GRCm39) |
I1089T |
possibly damaging |
Het |
| Ptk2 |
A |
T |
15: 73,134,424 (GRCm39) |
D558E |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,112 (GRCm39) |
D168G |
probably benign |
Het |
| Shisa8 |
G |
A |
15: 82,092,756 (GRCm39) |
P189L |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,054,204 (GRCm39) |
V89A |
probably benign |
Het |
| Slc44a3 |
A |
T |
3: 121,291,496 (GRCm39) |
Y373* |
probably null |
Het |
| Slf2 |
T |
C |
19: 44,937,440 (GRCm39) |
V722A |
probably benign |
Het |
| Spanxn4 |
A |
G |
12: 62,734,624 (GRCm39) |
|
noncoding transcript |
Het |
| Stag3 |
T |
A |
5: 138,296,901 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,628,038 (GRCm39) |
I612T |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,906,043 (GRCm39) |
M286L |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,545,515 (GRCm39) |
N294K |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,302,644 (GRCm39) |
L1381V |
probably damaging |
Het |
| Trpm8 |
T |
G |
1: 88,254,154 (GRCm39) |
S126A |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,857 (GRCm39) |
Y1075C |
probably damaging |
Het |
| Ubox5 |
C |
T |
2: 130,439,376 (GRCm39) |
G418D |
probably benign |
Het |
| Vmn1r67 |
T |
C |
7: 10,180,907 (GRCm39) |
V57A |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,500 (GRCm39) |
H628R |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,216 (GRCm39) |
I231V |
probably benign |
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 |
|
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 |
|
R6455:Slc40a1
|
UTSW |
1 |
45,958,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TCTAGCAGCAATGACTCCTGCAAAC -3'
(R):5'- TGAATGTGAACAAGAGCCCACCTG -3'
Sequencing Primer
(F):5'- GGGCTTCCAGGCATGAATAC -3'
(R):5'- ACCTGTGCCTCCCAGATG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation