Incidental Mutation 'R2303:Slc40a1'
| ID |
244477 |
| 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 |
040302-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 45950044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
|
| AlphaFold |
Q9JHI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027137
|
| SMART Domains |
Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
G |
17: 65,141,561 (GRCm39) |
D14A |
unknown |
Het |
| Aars1 |
C |
A |
8: 111,779,134 (GRCm39) |
T756K |
possibly damaging |
Het |
| Abca9 |
A |
T |
11: 110,049,052 (GRCm39) |
M252K |
probably benign |
Het |
| Acan |
A |
G |
7: 78,749,705 (GRCm39) |
E1492G |
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,414,562 (GRCm39) |
R1223L |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,933,733 (GRCm39) |
L2003S |
probably damaging |
Het |
| Cct8 |
A |
T |
16: 87,287,220 (GRCm39) |
|
probably null |
Het |
| Dagla |
T |
C |
19: 10,229,467 (GRCm39) |
T598A |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,378,600 (GRCm39) |
I194V |
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,870,541 (GRCm39) |
N387D |
possibly damaging |
Het |
| Fn1 |
C |
T |
1: 71,653,195 (GRCm39) |
|
probably null |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gnrhr |
C |
T |
5: 86,345,608 (GRCm39) |
G26D |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,579,977 (GRCm39) |
L1920Q |
probably damaging |
Het |
| Kank2 |
T |
A |
9: 21,681,061 (GRCm39) |
I823F |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Mfsd6 |
T |
A |
1: 52,715,672 (GRCm39) |
N535I |
probably damaging |
Het |
| Mgat5 |
T |
C |
1: 127,374,036 (GRCm39) |
Y479H |
probably benign |
Het |
| Ncoa7 |
G |
A |
10: 30,530,431 (GRCm39) |
T701I |
probably damaging |
Het |
| Or6c2 |
T |
C |
10: 129,362,918 (GRCm39) |
V274A |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,709,723 (GRCm39) |
R531G |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,469,284 (GRCm39) |
H51R |
probably damaging |
Het |
| Pdik1l |
G |
A |
4: 134,011,559 (GRCm39) |
Q95* |
probably null |
Het |
| Ppp4r3b |
A |
T |
11: 29,150,741 (GRCm39) |
H469L |
possibly damaging |
Het |
| Prnp |
A |
G |
2: 131,779,046 (GRCm39) |
T233A |
probably benign |
Het |
| Rcan1 |
T |
C |
16: 92,190,484 (GRCm39) |
T152A |
possibly damaging |
Het |
| Sema3g |
T |
C |
14: 30,944,572 (GRCm39) |
F329L |
probably damaging |
Het |
| Setd1a |
G |
A |
7: 127,398,327 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,899,318 (GRCm39) |
C1589Y |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,868,027 (GRCm39) |
T1616A |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,956,451 (GRCm39) |
Y842H |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,215,806 (GRCm39) |
|
probably benign |
Het |
| Zcchc8 |
A |
G |
5: 123,838,660 (GRCm39) |
L626P |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,462,120 (GRCm39) |
H1240R |
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 |
|
|
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'- CACACAGACACACATGGAAAGGG -3'
(R):5'- TGAATGTGGAGCCAGTGTCC -3'
Sequencing Primer
(F):5'- ACTTGACATGCATGAGGTCC -3'
(R):5'- GGAGCCAGTGTCCCCAACTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation