Incidental Mutation 'R0376:Slc40a1'
| ID |
30725 |
| 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 |
038582-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0376 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 45951651 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: ENSMUST00000191247
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
T |
C |
12: 113,508,310 (GRCm39) |
Y228H |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,254,724 (GRCm39) |
F211S |
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 66,360,004 (GRCm39) |
Q11L |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,514,637 (GRCm39) |
R115G |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,177,453 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,873,528 (GRCm39) |
D782E |
probably damaging |
Het |
| Bcr |
G |
T |
10: 74,981,159 (GRCm39) |
L659F |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,549,015 (GRCm39) |
|
probably benign |
Het |
| Camp |
C |
T |
9: 109,677,467 (GRCm39) |
C122Y |
probably damaging |
Het |
| Cimip1 |
G |
A |
2: 173,370,120 (GRCm39) |
E132K |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,600,776 (GRCm39) |
S769R |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,414,260 (GRCm39) |
K335I |
probably damaging |
Het |
| Cyp3a11 |
A |
C |
5: 145,799,262 (GRCm39) |
Y308* |
probably null |
Het |
| Flnb |
G |
A |
14: 7,946,014 (GRCm38) |
|
probably null |
Het |
| Frmd4a |
G |
T |
2: 4,577,198 (GRCm39) |
M351I |
probably damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,807,142 (GRCm39) |
S365N |
possibly damaging |
Het |
| Ggn |
T |
C |
7: 28,872,447 (GRCm39) |
V609A |
possibly damaging |
Het |
| H60c |
T |
C |
10: 3,210,435 (GRCm39) |
|
probably benign |
Het |
| Hexd |
T |
A |
11: 121,108,991 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,245,878 (GRCm39) |
T1282A |
probably benign |
Het |
| Ikzf4 |
T |
C |
10: 128,468,625 (GRCm39) |
N618S |
probably benign |
Het |
| Ints14 |
A |
G |
9: 64,891,272 (GRCm39) |
K418E |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,373,627 (GRCm39) |
E1454G |
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,994,853 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
A |
C |
15: 101,646,505 (GRCm39) |
F328C |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 26,891,542 (GRCm39) |
T2524A |
possibly damaging |
Het |
| Mfn2 |
C |
T |
4: 147,969,983 (GRCm39) |
V363I |
probably benign |
Het |
| Mkln1 |
A |
T |
6: 31,454,953 (GRCm39) |
D496V |
probably benign |
Het |
| Or2q1 |
A |
T |
6: 42,795,226 (GRCm39) |
M274L |
probably benign |
Het |
| Patj |
T |
A |
4: 98,457,224 (GRCm39) |
I1242N |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,547,721 (GRCm39) |
E502G |
probably damaging |
Het |
| Plppr4 |
G |
T |
3: 117,116,740 (GRCm39) |
H314Q |
probably benign |
Het |
| Prkcsh |
A |
G |
9: 21,921,547 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
C |
T |
7: 127,075,815 (GRCm39) |
H181Y |
probably benign |
Het |
| Pus3 |
A |
T |
9: 35,477,718 (GRCm39) |
M317L |
possibly damaging |
Het |
| Pwwp2a |
T |
A |
11: 43,595,499 (GRCm39) |
D221E |
probably benign |
Het |
| Rbm15 |
T |
C |
3: 107,238,254 (GRCm39) |
S715G |
probably benign |
Het |
| Rbm28 |
A |
G |
6: 29,158,927 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
A |
T |
14: 70,034,184 (GRCm39) |
V347E |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
| Scgb1b27 |
C |
T |
7: 33,721,322 (GRCm39) |
T70I |
possibly damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spaca9 |
A |
G |
2: 28,583,672 (GRCm39) |
V104A |
probably benign |
Het |
| Spag7 |
T |
C |
11: 70,560,016 (GRCm39) |
|
probably benign |
Het |
| Sugp1 |
A |
G |
8: 70,505,288 (GRCm39) |
D85G |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,212,454 (GRCm39) |
|
probably benign |
Het |
| Tcp11l1 |
C |
A |
2: 104,527,850 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
A |
C |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,144,294 (GRCm39) |
V636E |
possibly damaging |
Het |
| Tldc2 |
T |
C |
2: 156,937,225 (GRCm39) |
W147R |
probably damaging |
Het |
| Tmem161b |
A |
G |
13: 84,440,502 (GRCm39) |
T125A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,753,149 (GRCm39) |
M1825V |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,608,062 (GRCm39) |
F186L |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Zc3h7a |
T |
C |
16: 10,974,066 (GRCm39) |
M240V |
probably benign |
Het |
| Zc3hc1 |
G |
C |
6: 30,372,789 (GRCm39) |
S351W |
probably damaging |
Het |
| Zfp366 |
T |
C |
13: 99,370,759 (GRCm39) |
M493T |
probably benign |
Het |
| Zfp93 |
C |
T |
7: 23,975,286 (GRCm39) |
P424S |
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 |
|
|
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 |
|
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'- ACCTTGAGAGCAGCTTTTACAGCC -3'
(R):5'- AAAGGAGCATTGTATTTGTTTTGCCACA -3'
Sequencing Primer
(F):5'- TTCTGGTAAACCTTCCAGAGCAAG -3'
(R):5'- TCTCGGGAGTCTGTACTGTT -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation