Incidental Mutation 'R9522:Slc40a1'
| ID |
718920 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9522 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
45947228-45965683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45948672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 536
(M536K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027137]
|
| AlphaFold |
Q9JHI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027137
AA Change: M536K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: M536K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPN1
|
22 |
530 |
5e-194 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,847,368 (GRCm39) |
Y744F |
probably null |
Het |
| Adam17 |
C |
A |
12: 21,395,693 (GRCm39) |
V277F |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,792,560 (GRCm39) |
C132Y |
probably damaging |
Het |
| Adgrf3 |
G |
A |
5: 30,404,482 (GRCm39) |
P318L |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,579,398 (GRCm39) |
I212N |
probably damaging |
Het |
| Allc |
A |
T |
12: 28,620,653 (GRCm39) |
F33I |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,027,450 (GRCm39) |
T7A |
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,260,691 (GRCm39) |
|
probably null |
Het |
| Btbd1 |
G |
T |
7: 81,479,081 (GRCm39) |
P20H |
unknown |
Het |
| Cass4 |
A |
G |
2: 172,269,348 (GRCm39) |
I477V |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,586,184 (GRCm39) |
E362G |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cimip2c |
A |
T |
5: 30,623,467 (GRCm39) |
S5C |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,412,347 (GRCm39) |
D896G |
probably benign |
Het |
| Crocc2 |
T |
C |
1: 93,117,429 (GRCm39) |
V305A |
probably benign |
Het |
| Cse1l |
G |
A |
2: 166,776,673 (GRCm39) |
V495I |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,152,257 (GRCm39) |
Y36* |
probably null |
Het |
| Ctss |
T |
G |
3: 95,454,109 (GRCm39) |
D220E |
probably benign |
Het |
| Ctu1 |
T |
C |
7: 43,324,900 (GRCm39) |
L113P |
probably benign |
Het |
| Cyp2d40 |
G |
A |
15: 82,648,274 (GRCm39) |
A13V |
possibly damaging |
Het |
| Dhrs4 |
A |
T |
14: 55,716,219 (GRCm39) |
|
probably benign |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dpysl5 |
C |
A |
5: 30,935,399 (GRCm39) |
Y167* |
probably null |
Het |
| E4f1 |
C |
T |
17: 24,666,096 (GRCm39) |
G234D |
probably damaging |
Het |
| Eif3g |
G |
T |
9: 20,809,451 (GRCm39) |
T27N |
probably benign |
Het |
| Eif3g |
T |
A |
9: 20,809,452 (GRCm39) |
T27S |
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,101 (GRCm39) |
F343L |
possibly damaging |
Het |
| Fdft1 |
T |
C |
14: 63,396,597 (GRCm39) |
|
probably null |
Het |
| Hsd3b9 |
T |
C |
3: 98,353,783 (GRCm39) |
S239G |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,917,215 (GRCm39) |
Q1562K |
probably benign |
Het |
| Ilf3 |
G |
A |
9: 21,305,533 (GRCm39) |
V232I |
probably benign |
Het |
| Irx5 |
C |
T |
8: 93,087,259 (GRCm39) |
T397M |
possibly damaging |
Het |
| Kif16b |
A |
T |
2: 142,691,827 (GRCm39) |
V219D |
probably damaging |
Het |
| Klkb1 |
T |
C |
8: 45,730,052 (GRCm39) |
I276M |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,200,266 (GRCm39) |
L115P |
probably damaging |
Het |
| Lrrc3b |
T |
C |
14: 15,358,423 (GRCm38) |
D61G |
probably benign |
Het |
| Map7 |
A |
G |
10: 20,105,642 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Moxd2 |
T |
A |
6: 40,857,375 (GRCm39) |
I462F |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or5b98 |
T |
A |
19: 12,931,377 (GRCm39) |
C141* |
probably null |
Het |
| Or9m2 |
G |
A |
2: 87,821,175 (GRCm39) |
C240Y |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,504,669 (GRCm39) |
V770A |
possibly damaging |
Het |
| Ppfia4 |
G |
A |
1: 134,240,886 (GRCm39) |
A819V |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,236,676 (GRCm39) |
W242R |
probably damaging |
Het |
| Rgs3 |
A |
G |
4: 62,523,729 (GRCm39) |
I53M |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,971,311 (GRCm39) |
F263S |
probably damaging |
Het |
| Rpl22l1 |
T |
C |
3: 28,860,743 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,560,759 (GRCm39) |
I3001F |
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,873,900 (GRCm39) |
I675T |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,853,987 (GRCm39) |
I330N |
possibly damaging |
Het |
| Sec16b |
C |
T |
1: 157,392,335 (GRCm39) |
S901L |
probably damaging |
Het |
| Setd5 |
T |
G |
6: 113,091,995 (GRCm39) |
I272S |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,825 (GRCm39) |
V232A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,780 (GRCm39) |
S643P |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 57,019,107 (GRCm39) |
D251G |
probably benign |
Het |
| Tbccd1 |
T |
C |
16: 22,641,249 (GRCm39) |
E376G |
possibly damaging |
Het |
| Tmem184a |
G |
T |
5: 139,791,485 (GRCm39) |
P368T |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,539,309 (GRCm39) |
D362G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,677,274 (GRCm39) |
H612R |
probably benign |
Het |
| Ugt3a1 |
C |
A |
15: 9,370,209 (GRCm39) |
P451H |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,677,221 (GRCm39) |
C2050Y |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r179 |
T |
C |
7: 23,628,202 (GRCm39) |
V131A |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,924 (GRCm39) |
F110S |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,232,379 (GRCm39) |
Y282C |
probably damaging |
Het |
| Zscan18 |
T |
C |
7: 12,503,297 (GRCm39) |
D754G |
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 |
|
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 |
|
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 |
|
|
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'- CCTTAAGGCACAGATGTGGTAAAAC -3'
(R):5'- GGTGACACAGTTGCTGCAAG -3'
Sequencing Primer
(F):5'- AATGCAGGCATTTATTGGGATTC -3'
(R):5'- TGACACAGTTGCTGCAAGAAAATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation