Incidental Mutation 'IGL02794:Slc40a1'
ID |
359906 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02794
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 45948668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 537
(Y537*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
|
AlphaFold |
Q9JHI9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027137
AA Change: Y537*
|
SMART Domains |
Protein: ENSMUSP00000027137 Gene: ENSMUSG00000025993 AA Change: Y537*
Domain | Start | End | E-Value | Type |
Pfam:FPN1
|
22 |
530 |
5e-194 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190055
|
Coding Region Coverage |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,621,385 (GRCm39) |
C1082S |
probably benign |
Het |
Akt2 |
G |
T |
7: 27,328,806 (GRCm39) |
R176L |
probably benign |
Het |
Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
Apeh |
A |
G |
9: 107,969,209 (GRCm39) |
S280P |
possibly damaging |
Het |
Atp1a4 |
T |
C |
1: 172,071,653 (GRCm39) |
M481V |
probably benign |
Het |
Atraid |
G |
A |
5: 31,210,214 (GRCm39) |
S135N |
probably damaging |
Het |
Camta2 |
C |
T |
11: 70,566,484 (GRCm39) |
G677D |
possibly damaging |
Het |
Ccdc18 |
A |
G |
5: 108,319,614 (GRCm39) |
N545S |
probably benign |
Het |
Cic |
A |
G |
7: 24,985,069 (GRCm39) |
D1105G |
probably damaging |
Het |
Crisp1 |
A |
T |
17: 40,623,957 (GRCm39) |
M4K |
unknown |
Het |
Crnkl1 |
C |
T |
2: 145,772,532 (GRCm39) |
E182K |
possibly damaging |
Het |
Dnmt1 |
A |
T |
9: 20,847,847 (GRCm39) |
C114S |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,174,788 (GRCm39) |
Y496N |
probably damaging |
Het |
Dst |
T |
C |
1: 34,309,910 (GRCm39) |
V1528A |
probably damaging |
Het |
Fbxl8 |
C |
T |
8: 105,994,752 (GRCm39) |
T88M |
probably benign |
Het |
Fbxo10 |
T |
C |
4: 45,041,928 (GRCm39) |
N767S |
probably benign |
Het |
Gm1527 |
A |
G |
3: 28,949,829 (GRCm39) |
T30A |
unknown |
Het |
Gorasp2 |
C |
A |
2: 70,509,838 (GRCm39) |
Y166* |
probably null |
Het |
Gucy2c |
T |
A |
6: 136,690,146 (GRCm39) |
Q744L |
probably damaging |
Het |
Heg1 |
A |
T |
16: 33,546,992 (GRCm39) |
N593I |
probably damaging |
Het |
Ice1 |
T |
A |
13: 70,757,278 (GRCm39) |
S236C |
possibly damaging |
Het |
Il12b |
T |
C |
11: 44,298,808 (GRCm39) |
Y88H |
probably damaging |
Het |
Izumo3 |
C |
T |
4: 92,035,200 (GRCm39) |
V6I |
probably benign |
Het |
Kcna6 |
A |
G |
6: 126,715,515 (GRCm39) |
V458A |
probably damaging |
Het |
Kif13b |
G |
A |
14: 65,040,889 (GRCm39) |
R1659Q |
probably benign |
Het |
Klk1b1 |
A |
G |
7: 43,619,789 (GRCm39) |
D116G |
possibly damaging |
Het |
Lama2 |
T |
C |
10: 26,917,227 (GRCm39) |
T2233A |
possibly damaging |
Het |
Lin9 |
A |
T |
1: 180,479,444 (GRCm39) |
K59N |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,838,709 (GRCm39) |
E1083G |
probably damaging |
Het |
Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
Mga |
T |
A |
2: 119,776,770 (GRCm39) |
I1768N |
possibly damaging |
Het |
Mical3 |
C |
A |
6: 120,984,270 (GRCm39) |
G202V |
probably damaging |
Het |
Mylk |
A |
T |
16: 34,806,911 (GRCm39) |
I1719F |
probably benign |
Het |
Nusap1 |
T |
A |
2: 119,460,867 (GRCm39) |
F120Y |
possibly damaging |
Het |
Or52e8 |
T |
A |
7: 104,624,596 (GRCm39) |
M203L |
probably benign |
Het |
Or8b56 |
T |
A |
9: 38,739,511 (GRCm39) |
C175S |
probably damaging |
Het |
Or8k32 |
T |
C |
2: 86,368,492 (GRCm39) |
T256A |
possibly damaging |
Het |
Pidd1 |
T |
C |
7: 141,023,021 (GRCm39) |
Y57C |
probably benign |
Het |
Pik3cd |
T |
A |
4: 149,739,028 (GRCm39) |
M671L |
probably benign |
Het |
Ppp5c |
A |
G |
7: 16,740,885 (GRCm39) |
V361A |
probably benign |
Het |
Prune2 |
T |
C |
19: 17,096,725 (GRCm39) |
V743A |
probably benign |
Het |
Siglec1 |
C |
A |
2: 130,917,889 (GRCm39) |
S996I |
possibly damaging |
Het |
Slc12a7 |
A |
G |
13: 73,957,206 (GRCm39) |
R948G |
possibly damaging |
Het |
Smarca4 |
T |
A |
9: 21,584,638 (GRCm39) |
|
probably benign |
Het |
Smg6 |
C |
T |
11: 74,944,760 (GRCm39) |
P1109S |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 41,975,070 (GRCm39) |
N513Y |
probably damaging |
Het |
Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
Trim72 |
T |
C |
7: 127,603,704 (GRCm39) |
C17R |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,268,785 (GRCm39) |
C1956R |
probably damaging |
Het |
Vmn1r211 |
G |
T |
13: 23,036,379 (GRCm39) |
T96N |
possibly damaging |
Het |
Vmn1r211 |
C |
A |
13: 23,036,376 (GRCm39) |
S97I |
probably damaging |
Het |
Vmn1r211 |
T |
A |
13: 23,036,377 (GRCm39) |
S97C |
probably damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,644,623 (GRCm39) |
S596T |
probably benign |
Het |
Zfp609 |
A |
G |
9: 65,611,602 (GRCm39) |
S454P |
possibly 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 |
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 |
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 |
|
Posted On |
2015-12-18 |