Incidental Mutation 'R9042:Slc40a1'
| ID |
687762 |
| 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 |
068869-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45948621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 553
(G553D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
|
| AlphaFold |
Q9JHI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027137
AA Change: G553D
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: G553D
| 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 |
100% (49/49) |
| 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 |
|---|
| Adamts12 |
A |
G |
15: 11,152,134 (GRCm39) |
K208R |
probably benign |
Het |
| Amh |
T |
C |
10: 80,642,443 (GRCm39) |
M242T |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,488,510 (GRCm39) |
Y440C |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,538,263 (GRCm39) |
E499* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,735,065 (GRCm39) |
I967V |
probably benign |
Het |
| Cpa6 |
T |
C |
1: 10,407,515 (GRCm39) |
T341A |
probably benign |
Het |
| Cyp26b1 |
T |
A |
6: 84,553,590 (GRCm39) |
Y263F |
probably benign |
Het |
| Ecm2 |
C |
A |
13: 49,682,439 (GRCm39) |
Y489* |
probably null |
Het |
| Gpr22 |
C |
A |
12: 31,759,853 (GRCm39) |
V90L |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,836,438 (GRCm39) |
V516M |
probably benign |
Het |
| Ipo5 |
C |
T |
14: 121,160,547 (GRCm39) |
S188L |
probably benign |
Het |
| Kcnh6 |
T |
A |
11: 105,908,464 (GRCm39) |
I360N |
possibly damaging |
Het |
| Lrp1b |
C |
A |
2: 41,392,029 (GRCm39) |
D512Y |
|
Het |
| Lrpprc |
C |
T |
17: 85,059,736 (GRCm39) |
|
probably null |
Het |
| Lta4h |
A |
G |
10: 93,318,850 (GRCm39) |
K547R |
probably benign |
Het |
| Nacad |
G |
C |
11: 6,548,948 (GRCm39) |
P1340R |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,156,301 (GRCm39) |
K495E |
probably benign |
Het |
| Ndufaf7 |
A |
T |
17: 79,245,968 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
A |
G |
11: 76,941,477 (GRCm39) |
V77A |
probably benign |
Het |
| Or1f19 |
A |
T |
16: 3,411,132 (GRCm39) |
S291C |
probably damaging |
Het |
| Or8k3b |
T |
C |
2: 86,521,139 (GRCm39) |
Y60C |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,456 (GRCm39) |
V73A |
probably damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,574,493 (GRCm39) |
T231I |
probably benign |
Het |
| Parp11 |
C |
A |
6: 127,448,615 (GRCm39) |
Y77* |
probably null |
Het |
| Phc3 |
T |
A |
3: 30,983,916 (GRCm39) |
T712S |
unknown |
Het |
| Pkm |
T |
A |
9: 59,579,220 (GRCm39) |
I335N |
probably damaging |
Het |
| Pmpca |
A |
G |
2: 26,283,581 (GRCm39) |
T417A |
probably benign |
Het |
| Pot1b |
C |
T |
17: 56,006,991 (GRCm39) |
|
probably null |
Het |
| Prrc1 |
T |
A |
18: 57,507,764 (GRCm39) |
|
probably null |
Het |
| Psg18 |
A |
T |
7: 18,083,047 (GRCm39) |
N369K |
probably benign |
Het |
| Pum3 |
T |
A |
19: 27,399,791 (GRCm39) |
Y214F |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,253,036 (GRCm39) |
T637M |
probably damaging |
Het |
| Rpe65 |
A |
T |
3: 159,321,292 (GRCm39) |
Y368F |
probably damaging |
Het |
| Serpina3a |
A |
G |
12: 104,082,362 (GRCm39) |
D45G |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,199,731 (GRCm39) |
L263F |
probably damaging |
Het |
| Slc25a23 |
C |
T |
17: 57,352,553 (GRCm39) |
V444I |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,816,037 (GRCm39) |
Q665R |
possibly damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,123,185 (GRCm39) |
I3275T |
probably benign |
Het |
| Taf7 |
C |
A |
18: 37,776,223 (GRCm39) |
D115Y |
probably damaging |
Het |
| Tanc1 |
G |
C |
2: 59,673,766 (GRCm39) |
A1624P |
probably benign |
Het |
| Tmed4 |
T |
C |
11: 6,224,405 (GRCm39) |
D85G |
probably benign |
Het |
| Tmed6 |
A |
G |
8: 107,790,385 (GRCm39) |
V138A |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,977,517 (GRCm39) |
T370A |
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,720,310 (GRCm39) |
T91A |
probably benign |
Het |
| Ube4b |
C |
G |
4: 149,444,833 (GRCm39) |
A476P |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,435 (GRCm39) |
C795R |
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 |
|
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 |
|
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'- AATAACCATCTTTGCTGGCGATG -3'
(R):5'- GGTGTGCAGAACTCCATGAAC -3'
Sequencing Primer
(F):5'- AGTTAGTGCTCCTAGCCCTTAAGG -3'
(R):5'- GCAGAACTCCATGAACTACCTTCTTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation