Incidental Mutation 'R9183:Slc40a1'
| ID |
697156 |
| 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 |
068950-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45948671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 536
(M536I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
|
| AlphaFold |
Q9JHI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027137
AA Change: M536I
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: M536I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPN1
|
22 |
530 |
5e-194 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
G |
14: 8,251,559 (GRCm38) |
C313R |
probably damaging |
Het |
| Adap2 |
A |
G |
11: 80,045,882 (GRCm39) |
N54S |
probably damaging |
Het |
| Adcy8 |
T |
C |
15: 64,694,116 (GRCm39) |
D387G |
probably damaging |
Het |
| Adgra1 |
G |
A |
7: 139,455,716 (GRCm39) |
R448Q |
probably benign |
Het |
| Antxr1 |
A |
T |
6: 87,264,025 (GRCm39) |
D148E |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,545,627 (GRCm39) |
V1034E |
probably null |
Het |
| Arpp21 |
C |
T |
9: 111,895,066 (GRCm39) |
A731T |
probably benign |
Het |
| Asl |
T |
A |
5: 130,042,312 (GRCm39) |
R255W |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,239,840 (GRCm39) |
S544T |
probably damaging |
Het |
| Atp8a1 |
A |
C |
5: 67,924,378 (GRCm39) |
Y329D |
|
Het |
| Calcr |
A |
T |
6: 3,711,463 (GRCm39) |
I186N |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,227,065 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,706,595 (GRCm39) |
L1026P |
probably damaging |
Het |
| Ces2a |
T |
A |
8: 105,460,774 (GRCm39) |
V24E |
possibly damaging |
Het |
| Clybl |
T |
C |
14: 122,639,387 (GRCm39) |
I317T |
probably damaging |
Het |
| Col13a1 |
T |
A |
10: 61,699,758 (GRCm39) |
T476S |
unknown |
Het |
| Cyp4f15 |
T |
C |
17: 32,919,205 (GRCm39) |
S343P |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,112 (GRCm39) |
T263A |
probably benign |
Het |
| Fbxo28 |
A |
G |
1: 182,157,526 (GRCm39) |
V97A |
possibly damaging |
Het |
| Frem2 |
C |
T |
3: 53,427,486 (GRCm39) |
V2889I |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,895,080 (GRCm39) |
E663G |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,299,186 (GRCm39) |
K338M |
probably damaging |
Het |
| Gfi1 |
A |
G |
5: 107,873,819 (GRCm39) |
|
probably null |
Het |
| Gfod2 |
A |
G |
8: 106,449,653 (GRCm39) |
S95P |
probably benign |
Het |
| H2-T13 |
T |
A |
17: 36,392,382 (GRCm39) |
H31L |
unknown |
Het |
| Heatr1 |
A |
G |
13: 12,436,266 (GRCm39) |
Q1224R |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,437,551 (GRCm39) |
K1059E |
possibly damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,232 (GRCm39) |
A45V |
possibly damaging |
Het |
| Hnmt |
C |
A |
2: 23,893,655 (GRCm39) |
V280L |
probably benign |
Het |
| Ifi35 |
G |
T |
11: 101,348,091 (GRCm39) |
V66L |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,694,379 (GRCm39) |
I188T |
probably damaging |
Het |
| Klhl8 |
C |
A |
5: 104,012,111 (GRCm39) |
A575S |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,601,446 (GRCm39) |
D225G |
probably benign |
Het |
| Lrtm2 |
T |
C |
6: 119,294,384 (GRCm39) |
Y249C |
probably damaging |
Het |
| Med12l |
C |
T |
3: 58,984,498 (GRCm39) |
R479C |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,352,637 (GRCm39) |
Y709F |
possibly damaging |
Het |
| Nsd2 |
G |
A |
5: 34,028,796 (GRCm39) |
A162T |
probably damaging |
Het |
| Or6c38 |
A |
G |
10: 128,929,201 (GRCm39) |
M214T |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,957,840 (GRCm39) |
Q49K |
probably benign |
Het |
| Polr2h |
T |
C |
16: 20,539,285 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,205,969 (GRCm39) |
E275V |
probably damaging |
Het |
| Prss22 |
C |
T |
17: 24,213,592 (GRCm39) |
G233E |
probably damaging |
Het |
| Rhcg |
A |
T |
7: 79,244,564 (GRCm39) |
L496* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,318,448 (GRCm39) |
E1084G |
|
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Slc14a1 |
T |
A |
18: 78,154,598 (GRCm39) |
I263F |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 96,996,775 (GRCm39) |
|
probably null |
Het |
| Stk32a |
T |
C |
18: 43,394,405 (GRCm39) |
F118S |
probably damaging |
Het |
| Sytl1 |
G |
T |
4: 132,980,934 (GRCm39) |
R467S |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,896,526 (GRCm39) |
I788V |
probably benign |
Het |
| Tmed6 |
T |
A |
8: 107,788,390 (GRCm39) |
R186* |
probably null |
Het |
| Trnau1ap |
G |
A |
4: 132,052,565 (GRCm39) |
R78C |
probably damaging |
Het |
| Trpv1 |
A |
T |
11: 73,135,039 (GRCm39) |
D412V |
possibly damaging |
Het |
| Ttc16 |
C |
T |
2: 32,647,329 (GRCm39) |
V688M |
probably benign |
Het |
| Ubr5 |
C |
A |
15: 37,997,420 (GRCm39) |
L1738F |
|
Het |
| Vmn2r89 |
A |
G |
14: 51,692,501 (GRCm39) |
I101M |
probably benign |
Het |
| Wdr27 |
C |
T |
17: 15,148,651 (GRCm39) |
R114Q |
possibly damaging |
Het |
| Wdr48 |
A |
G |
9: 119,749,730 (GRCm39) |
H563R |
possibly damaging |
Het |
| Wdr49 |
A |
C |
3: 75,205,419 (GRCm39) |
S666A |
probably benign |
Het |
| Wwox |
T |
C |
8: 115,433,110 (GRCm39) |
S259P |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,240,354 (GRCm39) |
D12E |
possibly damaging |
Het |
| Zfp800 |
A |
G |
6: 28,243,172 (GRCm39) |
Y598H |
probably benign |
Het |
| Zfp970 |
T |
C |
2: 177,167,536 (GRCm39) |
L370P |
probably damaging |
Het |
| Zmat5 |
A |
T |
11: 4,672,431 (GRCm39) |
D16V |
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 |
|
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 |
|
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'- CCCTTAAGGCACAGATGTGG -3'
(R):5'- ACACAGTTGCTGCAAGAAAATG -3'
Sequencing Primer
(F):5'- CCTTAAGGCACAGATGTGGTAAAACC -3'
(R):5'- CAGTTGCTGCAAGAAAATGTAATTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation