Incidental Mutation 'R7755:Slc40a1'
ID |
597478 |
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 |
045811-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7755 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45950466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 329
(T329A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
|
AlphaFold |
Q9JHI9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027137
AA Change: T329A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027137 Gene: ENSMUSG00000025993 AA Change: T329A
Domain | Start | End | E-Value | Type |
Pfam:FPN1
|
22 |
530 |
5e-194 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (52/53) |
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 |
2700049A03Rik |
G |
A |
12: 71,236,187 (GRCm39) |
M1179I |
probably benign |
Het |
4930402F06Rik |
T |
C |
2: 35,266,349 (GRCm39) |
Y107C |
probably damaging |
Het |
Aff4 |
T |
C |
11: 53,289,206 (GRCm39) |
S452P |
probably damaging |
Het |
Astn2 |
T |
C |
4: 65,712,795 (GRCm39) |
D615G |
probably damaging |
Het |
Begain |
A |
G |
12: 109,018,802 (GRCm39) |
L215P |
probably benign |
Het |
Carf |
T |
A |
1: 60,187,214 (GRCm39) |
S606T |
probably benign |
Het |
Cngb3 |
A |
T |
4: 19,461,684 (GRCm39) |
T522S |
probably benign |
Het |
Ctsll3 |
A |
T |
13: 60,948,219 (GRCm39) |
F153I |
probably damaging |
Het |
Cubn |
G |
A |
2: 13,284,889 (GRCm39) |
T3509I |
probably benign |
Het |
Dmrta1 |
T |
C |
4: 89,580,170 (GRCm39) |
S377P |
probably benign |
Het |
Dnmbp |
G |
A |
19: 43,838,525 (GRCm39) |
A659V |
probably benign |
Het |
Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,015,490 (GRCm39) |
D3598G |
probably benign |
Het |
Elp1 |
T |
C |
4: 56,774,552 (GRCm39) |
N779S |
possibly damaging |
Het |
Flot2 |
T |
C |
11: 77,940,339 (GRCm39) |
F29L |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,849,003 (GRCm39) |
I367K |
possibly damaging |
Het |
Ivl |
T |
A |
3: 92,479,317 (GRCm39) |
K249N |
probably damaging |
Het |
Khnyn |
A |
G |
14: 56,125,425 (GRCm39) |
T503A |
probably damaging |
Het |
Mbd4 |
T |
A |
6: 115,821,546 (GRCm39) |
I490F |
probably damaging |
Het |
Mlip |
T |
C |
9: 77,136,838 (GRCm39) |
T690A |
probably benign |
Het |
Mmp1a |
T |
A |
9: 7,467,005 (GRCm39) |
D227E |
possibly damaging |
Het |
Mrgprf |
T |
C |
7: 144,862,380 (GRCm39) |
L314P |
probably damaging |
Het |
Ndufb9 |
T |
G |
15: 58,808,255 (GRCm39) |
Y80* |
probably null |
Het |
Neto2 |
C |
T |
8: 86,396,285 (GRCm39) |
R155H |
probably damaging |
Het |
Npat |
T |
A |
9: 53,470,470 (GRCm39) |
N365K |
possibly damaging |
Het |
Nsl1 |
G |
A |
1: 190,795,380 (GRCm39) |
V49M |
probably benign |
Het |
Nudt21 |
T |
A |
8: 94,749,493 (GRCm39) |
Y191F |
probably benign |
Het |
Or2w25 |
A |
G |
11: 59,504,467 (GRCm39) |
R226G |
probably damaging |
Het |
Or8b54 |
T |
G |
9: 38,687,073 (GRCm39) |
I174S |
possibly damaging |
Het |
Pcdh18 |
T |
C |
3: 49,709,278 (GRCm39) |
Y679C |
possibly damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,356,798 (GRCm39) |
D741G |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,617,717 (GRCm39) |
D956G |
probably damaging |
Het |
Poglut2 |
T |
C |
1: 44,157,733 (GRCm39) |
|
probably benign |
Het |
Pparg |
C |
T |
6: 115,440,067 (GRCm39) |
P214S |
probably damaging |
Het |
Ppargc1a |
T |
A |
5: 51,630,883 (GRCm39) |
Y582F |
unknown |
Het |
Prdm9 |
C |
T |
17: 15,765,226 (GRCm39) |
C518Y |
probably damaging |
Het |
Rangrf |
T |
A |
11: 68,864,540 (GRCm39) |
E2V |
probably damaging |
Het |
Rpl19 |
T |
C |
11: 97,919,193 (GRCm39) |
I45T |
probably benign |
Het |
Rtn4rl2 |
T |
C |
2: 84,702,807 (GRCm39) |
D255G |
possibly damaging |
Het |
Shld2 |
T |
C |
14: 33,970,847 (GRCm39) |
K627E |
probably damaging |
Het |
Sirt3 |
T |
C |
7: 140,457,963 (GRCm39) |
D62G |
|
Het |
Slc22a30 |
T |
C |
19: 8,314,133 (GRCm39) |
T518A |
probably damaging |
Het |
Slc6a17 |
C |
T |
3: 107,381,671 (GRCm39) |
G470D |
probably damaging |
Het |
Syne2 |
A |
T |
12: 76,044,181 (GRCm39) |
I3923L |
probably benign |
Het |
Tiam2 |
C |
T |
17: 3,471,591 (GRCm39) |
S411L |
probably benign |
Het |
Ticam1 |
A |
G |
17: 56,577,182 (GRCm39) |
C638R |
unknown |
Het |
Tnrc6c |
A |
G |
11: 117,648,912 (GRCm39) |
T1528A |
probably benign |
Het |
Ufl1 |
A |
G |
4: 25,262,274 (GRCm39) |
I404T |
probably benign |
Het |
Usp43 |
A |
T |
11: 67,782,294 (GRCm39) |
S375T |
possibly damaging |
Het |
Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
Vmn2r91 |
A |
T |
17: 18,330,311 (GRCm39) |
I532F |
possibly damaging |
Het |
Vmn2r95 |
T |
C |
17: 18,644,367 (GRCm39) |
M1T |
probably null |
Het |
Xirp2 |
T |
C |
2: 67,345,526 (GRCm39) |
V2589A |
probably benign |
Het |
Zfp128 |
C |
T |
7: 12,624,240 (GRCm39) |
Q203* |
probably null |
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 |
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'- GCTTCCAGGCATGAATACGG -3'
(R):5'- CTCATCTAATGGGTGAGAAAGACTCC -3'
Sequencing Primer
(F):5'- CTTCCAGGCATGAATACGGAGATC -3'
(R):5'- CTCCAACATCCGTGAACTTGAATGTG -3'
|
Posted On |
2019-11-26 |